Incidental Mutation 'IGL02536:Ctnnd1'
ID |
297486 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctnnd1
|
Ensembl Gene |
ENSMUSG00000034101 |
Gene Name |
catenin delta 1 |
Synonyms |
Ctnnd, Catns, p120-catenin, catenin (cadherin associated protein), delta 1, P120 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02536
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84430415-84481109 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84435540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 827
(T827A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036811]
[ENSMUST00000066177]
[ENSMUST00000067232]
[ENSMUST00000099941]
[ENSMUST00000111670]
[ENSMUST00000111675]
[ENSMUST00000111676]
[ENSMUST00000111684]
[ENSMUST00000111689]
[ENSMUST00000111694]
[ENSMUST00000111695]
[ENSMUST00000111687]
[ENSMUST00000111688]
[ENSMUST00000111686]
[ENSMUST00000111690]
[ENSMUST00000111691]
[ENSMUST00000111678]
[ENSMUST00000111692]
[ENSMUST00000111693]
[ENSMUST00000111685]
[ENSMUST00000111677]
[ENSMUST00000189772]
[ENSMUST00000111698]
[ENSMUST00000111696]
[ENSMUST00000111697]
|
AlphaFold |
P30999 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036811
|
SMART Domains |
Protein: ENSMUSP00000042543 Gene: ENSMUSG00000034101
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 benign
Transcript: ENSMUST00000066177
|
SMART Domains |
Protein: ENSMUSP00000065252 Gene: ENSMUSG00000034101
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 benign
Transcript: ENSMUST00000067232
AA Change: T897A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000064518 Gene: ENSMUSG00000034101 AA Change: T897A
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 benign
Transcript: ENSMUST00000099941
AA Change: T796A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097524 Gene: ENSMUSG00000034101 AA Change: T796A
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 benign
Transcript: ENSMUST00000111670
AA Change: T790A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107299 Gene: ENSMUSG00000034101 AA Change: T790A
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 benign
Transcript: ENSMUST00000111675
AA Change: T568A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107304 Gene: ENSMUSG00000034101 AA Change: T568A
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 benign
Transcript: ENSMUST00000111676
AA Change: T790A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107305 Gene: ENSMUSG00000034101 AA Change: T790A
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 benign
Transcript: ENSMUST00000111684
AA Change: T843A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107313 Gene: ENSMUSG00000034101 AA Change: T843A
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 benign
Transcript: ENSMUST00000111689
AA Change: T843A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107318 Gene: ENSMUSG00000034101 AA Change: T843A
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 benign
Transcript: ENSMUST00000111694
AA Change: T897A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107323 Gene: ENSMUSG00000034101 AA Change: T897A
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 benign
Transcript: ENSMUST00000111695
AA Change: T891A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107324 Gene: ENSMUSG00000034101 AA Change: T891A
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 benign
Transcript: ENSMUST00000111687
AA Change: T837A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107316 Gene: ENSMUSG00000034101 AA Change: T837A
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 benign
Transcript: ENSMUST00000111688
AA Change: T837A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107317 Gene: ENSMUSG00000034101 AA Change: T837A
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 benign
Transcript: ENSMUST00000111686
AA Change: T837A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107315 Gene: ENSMUSG00000034101 AA Change: T837A
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 benign
Transcript: ENSMUST00000111690
AA Change: T837A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107319 Gene: ENSMUSG00000034101 AA Change: T837A
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 benign
Transcript: ENSMUST00000111691
AA Change: T897A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107320 Gene: ENSMUSG00000034101 AA Change: T897A
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 benign
Transcript: ENSMUST00000111678
AA Change: T796A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107307 Gene: ENSMUSG00000034101 AA Change: T796A
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 benign
Transcript: ENSMUST00000111692
AA Change: T891A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107321 Gene: ENSMUSG00000034101 AA Change: T891A
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 benign
Transcript: ENSMUST00000111693
AA Change: T891A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107322 Gene: ENSMUSG00000034101 AA Change: T891A
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 benign
Transcript: ENSMUST00000111685
|
SMART Domains |
Protein: ENSMUSP00000107314 Gene: ENSMUSG00000034101
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 benign
Transcript: ENSMUST00000111677
|
SMART Domains |
Protein: ENSMUSP00000107306 Gene: ENSMUSG00000034101
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 benign
Transcript: ENSMUST00000189772
AA Change: T897A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141166 Gene: ENSMUSG00000101645 AA Change: T897A
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 benign
Transcript: ENSMUST00000111698
AA Change: T827A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000107327 Gene: ENSMUSG00000034101 AA Change: T827A
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 |
noncoding transcript
Transcript: ENSMUST00000141151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150940
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111696
|
SMART Domains |
Protein: ENSMUSP00000107325 Gene: ENSMUSG00000034101
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 benign
Transcript: ENSMUST00000111697
|
SMART Domains |
Protein: ENSMUSP00000107326 Gene: ENSMUSG00000034101
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 |
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
T |
A |
3: 59,685,665 (GRCm39) |
|
noncoding transcript |
Het |
Abca8b |
C |
T |
11: 109,872,574 (GRCm39) |
R9H |
probably benign |
Het |
Adamts8 |
T |
A |
9: 30,873,368 (GRCm39) |
S858T |
probably benign |
Het |
Alg1 |
C |
T |
16: 5,057,023 (GRCm39) |
Q245* |
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,813,910 (GRCm39) |
Y423C |
probably damaging |
Het |
Anp32a |
A |
T |
9: 62,279,110 (GRCm39) |
T55S |
probably damaging |
Het |
Arhgef9 |
A |
C |
X: 94,102,443 (GRCm39) |
V406G |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,571,259 (GRCm39) |
F275S |
possibly damaging |
Het |
Card9 |
C |
T |
2: 26,248,844 (GRCm39) |
V102I |
possibly damaging |
Het |
Ccdc81 |
A |
T |
7: 89,526,788 (GRCm39) |
|
probably benign |
Het |
Cd101 |
T |
A |
3: 100,910,913 (GRCm39) |
D915V |
probably damaging |
Het |
Cdk10 |
A |
G |
8: 123,953,754 (GRCm39) |
D77G |
possibly damaging |
Het |
Dspp |
A |
C |
5: 104,323,531 (GRCm39) |
T225P |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,112,035 (GRCm39) |
E1885G |
probably damaging |
Het |
Fstl4 |
C |
T |
11: 53,024,851 (GRCm39) |
|
probably benign |
Het |
Gm5930 |
T |
A |
14: 44,575,015 (GRCm39) |
N57I |
probably damaging |
Het |
Gnl2 |
C |
T |
4: 124,946,401 (GRCm39) |
Q541* |
probably null |
Het |
Igkv3-1 |
T |
C |
6: 70,681,035 (GRCm39) |
V78A |
probably benign |
Het |
Inpp5a |
T |
C |
7: 139,147,338 (GRCm39) |
I321T |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,951,959 (GRCm39) |
S1746T |
probably benign |
Het |
Lrrc8c |
T |
C |
5: 105,755,038 (GRCm39) |
I271T |
probably benign |
Het |
Mrps10 |
T |
C |
17: 47,685,928 (GRCm39) |
Y152H |
probably damaging |
Het |
Myl9 |
C |
T |
2: 156,620,469 (GRCm39) |
S2L |
probably damaging |
Het |
Myof |
A |
T |
19: 37,938,103 (GRCm39) |
H870Q |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,067,367 (GRCm39) |
I456F |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,009,723 (GRCm39) |
H550R |
probably benign |
Het |
Or13f5 |
T |
A |
4: 52,825,817 (GRCm39) |
V140D |
possibly damaging |
Het |
Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
Or51v8 |
T |
A |
7: 103,320,164 (GRCm39) |
I25F |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,460 (GRCm39) |
L144P |
probably damaging |
Het |
P2rx1 |
A |
T |
11: 72,903,300 (GRCm39) |
I230F |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,216,063 (GRCm39) |
V2275A |
possibly damaging |
Het |
Pip5k1a |
G |
A |
3: 94,971,707 (GRCm39) |
T465I |
probably benign |
Het |
Pnkd |
G |
A |
1: 74,391,059 (GRCm39) |
R415H |
probably damaging |
Het |
Prdx4 |
T |
A |
X: 154,115,443 (GRCm39) |
I132F |
probably damaging |
Het |
Pvr |
A |
G |
7: 19,652,717 (GRCm39) |
M66T |
probably benign |
Het |
Rnf216 |
A |
G |
5: 143,065,995 (GRCm39) |
I531T |
probably benign |
Het |
Rps6ka4 |
A |
T |
19: 6,809,439 (GRCm39) |
F405Y |
probably damaging |
Het |
Serpinb2 |
A |
G |
1: 107,452,679 (GRCm39) |
|
probably benign |
Het |
Sfxn1 |
A |
G |
13: 54,239,513 (GRCm39) |
K12R |
probably benign |
Het |
Slc17a7 |
A |
G |
7: 44,820,370 (GRCm39) |
E275G |
probably damaging |
Het |
Tnpo2 |
A |
T |
8: 85,771,696 (GRCm39) |
I245F |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,689,463 (GRCm39) |
|
probably null |
Het |
Yju2b |
A |
T |
8: 84,987,245 (GRCm39) |
Y109* |
probably null |
Het |
Zcchc4 |
C |
T |
5: 52,965,658 (GRCm39) |
R321W |
probably damaging |
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 |
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 |
R2192:Ctnnd1
|
UTSW |
2 |
84,439,907 (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 |
|
Posted On |
2015-04-16 |