Incidental Mutation 'R2192:Ctnnd1'
ID |
238171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctnnd1
|
Ensembl Gene |
ENSMUSG00000034101 |
Gene Name |
catenin delta 1 |
Synonyms |
Ctnnd, Catns, p120-catenin, catenin (cadherin associated protein), delta 1, P120 |
MMRRC Submission |
040194-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2192 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84430415-84481109 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84439907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 801
(G801D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036811]
[ENSMUST00000066177]
[ENSMUST00000067232]
[ENSMUST00000099941]
[ENSMUST00000111670]
[ENSMUST00000111675]
[ENSMUST00000111676]
[ENSMUST00000111694]
[ENSMUST00000111685]
[ENSMUST00000111686]
[ENSMUST00000111692]
[ENSMUST00000111693]
[ENSMUST00000111678]
[ENSMUST00000111684]
[ENSMUST00000111689]
[ENSMUST00000111687]
[ENSMUST00000111695]
[ENSMUST00000111677]
[ENSMUST00000111688]
[ENSMUST00000111690]
[ENSMUST00000111691]
[ENSMUST00000111698]
[ENSMUST00000189772]
[ENSMUST00000111696]
[ENSMUST00000111697]
|
AlphaFold |
P30999 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036811
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042543 Gene: ENSMUSG00000034101 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066177
AA Change: G795D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065252 Gene: ENSMUSG00000034101 AA Change: G795D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
1.2e-8 |
SMART |
ARM
|
440 |
481 |
1.3e-10 |
SMART |
ARM
|
482 |
539 |
3e-1 |
SMART |
ARM
|
541 |
588 |
1.8e-2 |
SMART |
Blast:ARM
|
645 |
687 |
1e-19 |
BLAST |
ARM
|
693 |
733 |
5.7e-7 |
SMART |
ARM
|
783 |
825 |
2.1e-1 |
SMART |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067232
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064518 Gene: ENSMUSG00000034101 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099941
AA Change: G700D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097524 Gene: ENSMUSG00000034101 AA Change: G700D
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
ARM
|
296 |
336 |
2.53e-6 |
SMART |
ARM
|
339 |
380 |
2.8e-8 |
SMART |
ARM
|
381 |
438 |
6.3e1 |
SMART |
ARM
|
440 |
487 |
3.74e0 |
SMART |
Blast:ARM
|
550 |
592 |
8e-20 |
BLAST |
ARM
|
598 |
638 |
1.23e-4 |
SMART |
ARM
|
688 |
730 |
4.41e1 |
SMART |
low complexity region
|
756 |
767 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111670
AA Change: G694D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107299 Gene: ENSMUSG00000034101 AA Change: G694D
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
ARM
|
296 |
336 |
2.53e-6 |
SMART |
ARM
|
339 |
380 |
2.8e-8 |
SMART |
ARM
|
381 |
438 |
6.3e1 |
SMART |
ARM
|
440 |
487 |
3.74e0 |
SMART |
Blast:ARM
|
544 |
586 |
9e-20 |
BLAST |
ARM
|
592 |
632 |
1.23e-4 |
SMART |
ARM
|
682 |
724 |
4.41e1 |
SMART |
low complexity region
|
750 |
761 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111675
AA Change: G472D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107304 Gene: ENSMUSG00000034101 AA Change: G472D
Domain | Start | End | E-Value | Type |
ARM
|
74 |
114 |
2.53e-6 |
SMART |
ARM
|
117 |
158 |
2.8e-8 |
SMART |
ARM
|
159 |
216 |
6.3e1 |
SMART |
ARM
|
218 |
265 |
3.74e0 |
SMART |
Blast:ARM
|
322 |
364 |
8e-20 |
BLAST |
ARM
|
370 |
410 |
1.23e-4 |
SMART |
ARM
|
460 |
502 |
4.41e1 |
SMART |
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111676
AA Change: G694D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107305 Gene: ENSMUSG00000034101 AA Change: G694D
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
ARM
|
296 |
336 |
2.53e-6 |
SMART |
ARM
|
339 |
380 |
2.8e-8 |
SMART |
ARM
|
381 |
438 |
6.3e1 |
SMART |
ARM
|
440 |
487 |
3.74e0 |
SMART |
Blast:ARM
|
544 |
586 |
1e-19 |
BLAST |
ARM
|
592 |
632 |
1.23e-4 |
SMART |
ARM
|
682 |
724 |
4.41e1 |
SMART |
low complexity region
|
750 |
761 |
N/A |
INTRINSIC |
low complexity region
|
836 |
848 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111694
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107323 Gene: ENSMUSG00000034101 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
low complexity region
|
943 |
955 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111685
AA Change: G747D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107314 Gene: ENSMUSG00000034101 AA Change: G747D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
597 |
639 |
6e-20 |
BLAST |
ARM
|
645 |
685 |
1.23e-4 |
SMART |
ARM
|
735 |
777 |
4.41e1 |
SMART |
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111686
AA Change: G741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107315 Gene: ENSMUSG00000034101 AA Change: G741D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
591 |
633 |
7e-20 |
BLAST |
ARM
|
639 |
679 |
1.23e-4 |
SMART |
ARM
|
729 |
771 |
4.41e1 |
SMART |
low complexity region
|
797 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111692
AA Change: G795D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107321 Gene: ENSMUSG00000034101 AA Change: G795D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
645 |
687 |
1e-19 |
BLAST |
ARM
|
693 |
733 |
1.23e-4 |
SMART |
ARM
|
783 |
825 |
4.41e1 |
SMART |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111693
AA Change: G795D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107322 Gene: ENSMUSG00000034101 AA Change: G795D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
645 |
687 |
1e-19 |
BLAST |
ARM
|
693 |
733 |
1.23e-4 |
SMART |
ARM
|
783 |
825 |
4.41e1 |
SMART |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111678
AA Change: G700D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107307 Gene: ENSMUSG00000034101 AA Change: G700D
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
ARM
|
296 |
336 |
2.53e-6 |
SMART |
ARM
|
339 |
380 |
2.8e-8 |
SMART |
ARM
|
381 |
438 |
6.3e1 |
SMART |
ARM
|
440 |
487 |
3.74e0 |
SMART |
Blast:ARM
|
550 |
592 |
9e-20 |
BLAST |
ARM
|
598 |
638 |
1.23e-4 |
SMART |
ARM
|
688 |
730 |
4.41e1 |
SMART |
low complexity region
|
756 |
767 |
N/A |
INTRINSIC |
low complexity region
|
842 |
854 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111684
AA Change: G747D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107313 Gene: ENSMUSG00000034101 AA Change: G747D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
597 |
639 |
6e-20 |
BLAST |
ARM
|
645 |
685 |
1.23e-4 |
SMART |
ARM
|
735 |
777 |
4.41e1 |
SMART |
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
low complexity region
|
889 |
901 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111689
AA Change: G747D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107318 Gene: ENSMUSG00000034101 AA Change: G747D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
597 |
639 |
6e-20 |
BLAST |
ARM
|
645 |
685 |
1.23e-4 |
SMART |
ARM
|
735 |
777 |
4.41e1 |
SMART |
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111687
AA Change: G741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107316 Gene: ENSMUSG00000034101 AA Change: G741D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
591 |
633 |
8e-20 |
BLAST |
ARM
|
639 |
679 |
1.23e-4 |
SMART |
ARM
|
729 |
771 |
4.41e1 |
SMART |
low complexity region
|
797 |
808 |
N/A |
INTRINSIC |
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111695
AA Change: G795D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107324 Gene: ENSMUSG00000034101 AA Change: G795D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
645 |
687 |
1e-19 |
BLAST |
ARM
|
693 |
733 |
1.23e-4 |
SMART |
ARM
|
783 |
825 |
4.41e1 |
SMART |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
low complexity region
|
937 |
949 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111677
AA Change: G694D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107306 Gene: ENSMUSG00000034101 AA Change: G694D
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
52 |
N/A |
INTRINSIC |
ARM
|
296 |
336 |
2.53e-6 |
SMART |
ARM
|
339 |
380 |
2.8e-8 |
SMART |
ARM
|
381 |
438 |
6.3e1 |
SMART |
ARM
|
440 |
487 |
3.74e0 |
SMART |
ARM
|
592 |
632 |
1.23e-4 |
SMART |
ARM
|
682 |
724 |
4.41e1 |
SMART |
low complexity region
|
750 |
761 |
N/A |
INTRINSIC |
low complexity region
|
815 |
827 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111688
AA Change: G741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107317 Gene: ENSMUSG00000034101 AA Change: G741D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
591 |
633 |
7e-20 |
BLAST |
ARM
|
639 |
679 |
1.23e-4 |
SMART |
ARM
|
729 |
771 |
4.41e1 |
SMART |
low complexity region
|
797 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111690
AA Change: G741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107319 Gene: ENSMUSG00000034101 AA Change: G741D
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
99 |
N/A |
INTRINSIC |
ARM
|
343 |
383 |
2.53e-6 |
SMART |
ARM
|
386 |
427 |
2.8e-8 |
SMART |
ARM
|
428 |
485 |
6.3e1 |
SMART |
ARM
|
487 |
534 |
3.74e0 |
SMART |
Blast:ARM
|
591 |
633 |
7e-20 |
BLAST |
ARM
|
639 |
679 |
1.23e-4 |
SMART |
ARM
|
729 |
771 |
4.41e1 |
SMART |
low complexity region
|
797 |
808 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111691
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107320 Gene: ENSMUSG00000034101 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111698
AA Change: G731D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107327 Gene: ENSMUSG00000034101 AA Change: G731D
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
89 |
N/A |
INTRINSIC |
ARM
|
333 |
373 |
2.53e-6 |
SMART |
ARM
|
376 |
417 |
2.8e-8 |
SMART |
ARM
|
418 |
475 |
6.3e1 |
SMART |
ARM
|
477 |
524 |
3.74e0 |
SMART |
Blast:ARM
|
581 |
623 |
8e-20 |
BLAST |
ARM
|
629 |
669 |
1.23e-4 |
SMART |
ARM
|
719 |
761 |
4.41e1 |
SMART |
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189772
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141166 Gene: ENSMUSG00000101645 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111696
AA Change: G795D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107325 Gene: ENSMUSG00000034101 AA Change: G795D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
645 |
687 |
1e-19 |
BLAST |
ARM
|
693 |
733 |
1.23e-4 |
SMART |
ARM
|
783 |
825 |
4.41e1 |
SMART |
low complexity region
|
851 |
862 |
N/A |
INTRINSIC |
low complexity region
|
916 |
928 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111697
AA Change: G801D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107326 Gene: ENSMUSG00000034101 AA Change: G801D
Domain | Start | End | E-Value | Type |
coiled coil region
|
10 |
45 |
N/A |
INTRINSIC |
low complexity region
|
126 |
153 |
N/A |
INTRINSIC |
ARM
|
397 |
437 |
2.53e-6 |
SMART |
ARM
|
440 |
481 |
2.8e-8 |
SMART |
ARM
|
482 |
539 |
6.3e1 |
SMART |
ARM
|
541 |
588 |
3.74e0 |
SMART |
Blast:ARM
|
651 |
693 |
9e-20 |
BLAST |
ARM
|
699 |
739 |
1.23e-4 |
SMART |
ARM
|
789 |
831 |
4.41e1 |
SMART |
low complexity region
|
857 |
868 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131926
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010] PHENOTYPE: Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
A |
T |
2: 131,403,289 (GRCm39) |
M267K |
probably damaging |
Het |
Aen |
T |
C |
7: 78,555,793 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
G |
6: 125,992,502 (GRCm39) |
D825G |
probably damaging |
Het |
Bdh2 |
T |
C |
3: 135,001,025 (GRCm39) |
S142P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,800,924 (GRCm39) |
L2507P |
possibly damaging |
Het |
Ces3a |
T |
C |
8: 105,782,212 (GRCm39) |
F308S |
probably benign |
Het |
Cfap47 |
C |
T |
X: 78,454,218 (GRCm39) |
R1646Q |
probably damaging |
Het |
Chd4 |
T |
A |
6: 125,082,320 (GRCm39) |
M603K |
probably damaging |
Het |
Cit |
T |
C |
5: 116,106,068 (GRCm39) |
V984A |
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,436,166 (GRCm39) |
D194E |
probably damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,696 (GRCm39) |
R600G |
probably benign |
Het |
Dgkg |
A |
G |
16: 22,407,049 (GRCm39) |
F179L |
probably damaging |
Het |
Dlg3 |
G |
A |
X: 99,817,827 (GRCm39) |
D379N |
probably damaging |
Het |
Drd2 |
G |
T |
9: 49,314,571 (GRCm39) |
R267S |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Edc3 |
T |
C |
9: 57,620,826 (GRCm39) |
V49A |
probably damaging |
Het |
Ern1 |
G |
A |
11: 106,300,750 (GRCm39) |
T548I |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,838,192 (GRCm39) |
D2684G |
possibly damaging |
Het |
Fam20a |
A |
G |
11: 109,565,449 (GRCm39) |
M454T |
probably benign |
Het |
Fbp2 |
A |
G |
13: 63,006,056 (GRCm39) |
M19T |
possibly damaging |
Het |
Frmd4b |
A |
T |
6: 97,464,577 (GRCm39) |
C47S |
probably damaging |
Het |
Gtf2h1 |
T |
A |
7: 46,464,747 (GRCm39) |
I388N |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,453,206 (GRCm39) |
V571A |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,870,841 (GRCm39) |
K2832* |
probably null |
Het |
Herc1 |
T |
A |
9: 66,372,688 (GRCm39) |
D3081E |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,591,566 (GRCm39) |
S1878T |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,841,605 (GRCm39) |
|
probably null |
Het |
Il17rd |
A |
T |
14: 26,816,835 (GRCm39) |
K180M |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
Khdrbs1 |
A |
G |
4: 129,613,830 (GRCm39) |
|
probably null |
Het |
Lce3a |
A |
C |
3: 92,832,837 (GRCm39) |
S88A |
unknown |
Het |
Lgals12 |
C |
T |
19: 7,578,606 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,399,373 (GRCm39) |
T57A |
probably benign |
Het |
Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
Lrrc4c |
C |
G |
2: 97,459,657 (GRCm39) |
N94K |
possibly damaging |
Het |
Mag |
A |
T |
7: 30,600,066 (GRCm39) |
Y571* |
probably null |
Het |
Mbd1 |
T |
A |
18: 74,410,449 (GRCm39) |
D583E |
probably damaging |
Het |
Mill1 |
T |
A |
7: 17,998,544 (GRCm39) |
Y251* |
probably null |
Het |
Mllt10 |
T |
C |
2: 18,211,871 (GRCm39) |
I928T |
probably benign |
Het |
Ms4a18 |
T |
C |
19: 10,991,029 (GRCm39) |
T22A |
probably benign |
Het |
Mtmr14 |
T |
C |
6: 113,257,700 (GRCm39) |
F250L |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
Myorg |
A |
G |
4: 41,497,704 (GRCm39) |
I642T |
probably damaging |
Het |
Nat10 |
C |
A |
2: 103,556,522 (GRCm39) |
E885D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,321,054 (GRCm39) |
L2055H |
probably damaging |
Het |
Necab3 |
T |
A |
2: 154,388,999 (GRCm39) |
I192F |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,650,000 (GRCm39) |
N783K |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,749,899 (GRCm39) |
W61R |
probably damaging |
Het |
Nox4 |
T |
A |
7: 87,023,588 (GRCm39) |
F491L |
probably benign |
Het |
Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,009 (GRCm39) |
Y212* |
probably null |
Het |
Or4c127 |
T |
A |
2: 89,832,774 (GRCm39) |
I8N |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,855 (GRCm39) |
V11A |
probably benign |
Het |
Osbpl5 |
A |
T |
7: 143,247,596 (GRCm39) |
Y723* |
probably null |
Het |
Otop2 |
T |
C |
11: 115,217,757 (GRCm39) |
S198P |
possibly damaging |
Het |
Pgam5 |
T |
G |
5: 110,413,785 (GRCm39) |
H126P |
probably damaging |
Het |
Phip |
A |
T |
9: 82,753,868 (GRCm39) |
N1625K |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,451 (GRCm39) |
Y202* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,347,156 (GRCm39) |
H176Q |
unknown |
Het |
Plxdc2 |
A |
G |
2: 16,570,147 (GRCm39) |
R109G |
probably damaging |
Het |
Prorsd1 |
T |
C |
11: 29,463,592 (GRCm39) |
K57E |
probably benign |
Het |
Rnf150 |
A |
T |
8: 83,591,020 (GRCm39) |
R128W |
probably damaging |
Het |
Samm50 |
G |
A |
15: 84,084,625 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
T |
4: 112,722,909 (GRCm39) |
Y889* |
probably null |
Het |
Slc35b1 |
T |
C |
11: 95,276,640 (GRCm39) |
Y40H |
probably damaging |
Het |
Speg |
A |
G |
1: 75,394,371 (GRCm39) |
H1722R |
probably damaging |
Het |
Suz12 |
T |
C |
11: 79,913,024 (GRCm39) |
L356P |
probably damaging |
Het |
Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
Trim2 |
G |
A |
3: 84,098,225 (GRCm39) |
Q359* |
probably null |
Het |
Ttc28 |
T |
C |
5: 111,371,362 (GRCm39) |
Y635H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,543,549 (GRCm39) |
E33146K |
probably damaging |
Het |
Vcp |
G |
T |
4: 42,982,547 (GRCm39) |
T715K |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,067,355 (GRCm39) |
N181K |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,582,144 (GRCm39) |
M511K |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,055,408 (GRCm39) |
R1554Q |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,863 (GRCm39) |
Q277L |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,684,620 (GRCm39) |
E42G |
probably damaging |
Het |
Zfp976 |
G |
A |
7: 42,262,695 (GRCm39) |
P381S |
probably damaging |
Het |
Zzef1 |
A |
T |
11: 72,800,982 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ctnnd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00578:Ctnnd1
|
APN |
2 |
84,439,969 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00846:Ctnnd1
|
APN |
2 |
84,452,354 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00861:Ctnnd1
|
APN |
2 |
84,434,096 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01394:Ctnnd1
|
APN |
2 |
84,435,600 (GRCm39) |
splice site |
probably benign |
|
IGL02035:Ctnnd1
|
APN |
2 |
84,450,425 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02536:Ctnnd1
|
APN |
2 |
84,435,540 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02859:Ctnnd1
|
APN |
2 |
84,450,253 (GRCm39) |
splice site |
probably benign |
|
IGL03270:Ctnnd1
|
APN |
2 |
84,440,071 (GRCm39) |
splice site |
probably null |
|
IGL02802:Ctnnd1
|
UTSW |
2 |
84,454,806 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R0449:Ctnnd1
|
UTSW |
2 |
84,433,606 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0487:Ctnnd1
|
UTSW |
2 |
84,439,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Ctnnd1
|
UTSW |
2 |
84,433,240 (GRCm39) |
missense |
probably benign |
0.40 |
R1503:Ctnnd1
|
UTSW |
2 |
84,435,523 (GRCm39) |
splice site |
probably null |
|
R1701:Ctnnd1
|
UTSW |
2 |
84,439,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Ctnnd1
|
UTSW |
2 |
84,445,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Ctnnd1
|
UTSW |
2 |
84,450,704 (GRCm39) |
missense |
probably benign |
0.00 |
R2002:Ctnnd1
|
UTSW |
2 |
84,450,704 (GRCm39) |
missense |
probably benign |
0.00 |
R2185:Ctnnd1
|
UTSW |
2 |
84,442,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Ctnnd1
|
UTSW |
2 |
84,447,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R2389:Ctnnd1
|
UTSW |
2 |
84,454,615 (GRCm39) |
missense |
probably null |
0.94 |
R2872:Ctnnd1
|
UTSW |
2 |
84,451,232 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2872:Ctnnd1
|
UTSW |
2 |
84,451,232 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3846:Ctnnd1
|
UTSW |
2 |
84,447,271 (GRCm39) |
missense |
probably benign |
0.04 |
R4019:Ctnnd1
|
UTSW |
2 |
84,450,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R4194:Ctnnd1
|
UTSW |
2 |
84,434,045 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4796:Ctnnd1
|
UTSW |
2 |
84,450,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R4847:Ctnnd1
|
UTSW |
2 |
84,452,396 (GRCm39) |
nonsense |
probably null |
|
R4964:Ctnnd1
|
UTSW |
2 |
84,452,417 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4966:Ctnnd1
|
UTSW |
2 |
84,452,417 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5223:Ctnnd1
|
UTSW |
2 |
84,447,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5336:Ctnnd1
|
UTSW |
2 |
84,447,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Ctnnd1
|
UTSW |
2 |
84,447,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5429:Ctnnd1
|
UTSW |
2 |
84,447,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5974:Ctnnd1
|
UTSW |
2 |
84,451,259 (GRCm39) |
nonsense |
probably null |
|
R6018:Ctnnd1
|
UTSW |
2 |
84,480,812 (GRCm39) |
intron |
probably benign |
|
R6285:Ctnnd1
|
UTSW |
2 |
84,444,231 (GRCm39) |
critical splice donor site |
probably null |
|
R6562:Ctnnd1
|
UTSW |
2 |
84,454,652 (GRCm39) |
missense |
probably benign |
|
R6661:Ctnnd1
|
UTSW |
2 |
84,439,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R6694:Ctnnd1
|
UTSW |
2 |
84,454,849 (GRCm39) |
start gained |
probably benign |
|
R6769:Ctnnd1
|
UTSW |
2 |
84,450,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R6769:Ctnnd1
|
UTSW |
2 |
84,450,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6771:Ctnnd1
|
UTSW |
2 |
84,450,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R6771:Ctnnd1
|
UTSW |
2 |
84,450,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Ctnnd1
|
UTSW |
2 |
84,439,990 (GRCm39) |
missense |
probably benign |
0.02 |
R7025:Ctnnd1
|
UTSW |
2 |
84,440,950 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7208:Ctnnd1
|
UTSW |
2 |
84,452,390 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7466:Ctnnd1
|
UTSW |
2 |
84,441,129 (GRCm39) |
missense |
probably benign |
0.30 |
R7583:Ctnnd1
|
UTSW |
2 |
84,442,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R8087:Ctnnd1
|
UTSW |
2 |
84,441,220 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8458:Ctnnd1
|
UTSW |
2 |
84,444,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Ctnnd1
|
UTSW |
2 |
84,450,384 (GRCm39) |
missense |
probably benign |
0.03 |
R9087:Ctnnd1
|
UTSW |
2 |
84,439,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R9318:Ctnnd1
|
UTSW |
2 |
84,438,682 (GRCm39) |
missense |
probably benign |
0.01 |
R9651:Ctnnd1
|
UTSW |
2 |
84,439,899 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9736:Ctnnd1
|
UTSW |
2 |
84,442,430 (GRCm39) |
missense |
probably benign |
0.19 |
X0062:Ctnnd1
|
UTSW |
2 |
84,445,558 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ctnnd1
|
UTSW |
2 |
84,445,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAATCCTATACTGTCGGAAACACTG -3'
(R):5'- TCACTGTACTGTGAGCCACC -3'
Sequencing Primer
(F):5'- CGGAAACACTGACATAAGTAGTTTG -3'
(R):5'- GTACTGTGAGCCACCTCCTGAC -3'
|
Posted On |
2014-10-02 |