Incidental Mutation 'R6769:Ctnnd1'
| ID |
532073 |
| 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 |
044885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84430415-84481109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84450269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 317
(R317L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036811]
[ENSMUST00000066177]
[ENSMUST00000067232]
[ENSMUST00000099941]
[ENSMUST00000111670]
[ENSMUST00000111675]
[ENSMUST00000111676]
[ENSMUST00000111677]
[ENSMUST00000111678]
[ENSMUST00000111684]
[ENSMUST00000111685]
[ENSMUST00000111686]
[ENSMUST00000111687]
[ENSMUST00000111688]
[ENSMUST00000111689]
[ENSMUST00000111690]
[ENSMUST00000111691]
[ENSMUST00000111692]
[ENSMUST00000111693]
[ENSMUST00000111694]
[ENSMUST00000111695]
[ENSMUST00000111696]
[ENSMUST00000111697]
[ENSMUST00000111698]
[ENSMUST00000189772]
|
| AlphaFold |
P30999 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036811
AA Change: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042543
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065252
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064518
Gene: ENSMUSG00000034101
AA Change: R317L
| 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 |
possibly damaging
Transcript: ENSMUST00000099941
AA Change: R216L
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097524
Gene: ENSMUSG00000034101
AA Change: R216L
| 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 |
possibly damaging
Transcript: ENSMUST00000111670
AA Change: R216L
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107299
Gene: ENSMUSG00000034101
AA Change: R216L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107304
Gene: ENSMUSG00000034101
| 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 |
possibly damaging
Transcript: ENSMUST00000111676
AA Change: R216L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107305
Gene: ENSMUSG00000034101
AA Change: R216L
| 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: ENSMUST00000111677
AA Change: R216L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107306
Gene: ENSMUSG00000034101
AA Change: R216L
| 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: ENSMUST00000111678
AA Change: R216L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107307
Gene: ENSMUSG00000034101
AA Change: R216L
| 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: R263L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107313
Gene: ENSMUSG00000034101
AA Change: R263L
| 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 |
possibly damaging
Transcript: ENSMUST00000111685
AA Change: R263L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107314
Gene: ENSMUSG00000034101
AA Change: R263L
| 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 |
possibly damaging
Transcript: ENSMUST00000111686
AA Change: R263L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107315
Gene: ENSMUSG00000034101
AA Change: R263L
| 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 |
possibly damaging
Transcript: ENSMUST00000111687
AA Change: R263L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107316
Gene: ENSMUSG00000034101
AA Change: R263L
| 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 |
possibly damaging
Transcript: ENSMUST00000111688
AA Change: R263L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107317
Gene: ENSMUSG00000034101
AA Change: R263L
| 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: ENSMUST00000111689
AA Change: R263L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107318
Gene: ENSMUSG00000034101
AA Change: R263L
| 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 |
possibly damaging
Transcript: ENSMUST00000111690
AA Change: R263L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107319
Gene: ENSMUSG00000034101
AA Change: R263L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107320
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: ENSMUST00000111692
AA Change: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107321
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107322
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: ENSMUST00000111694
AA Change: R317L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107323
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: ENSMUST00000111695
AA Change: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107324
Gene: ENSMUSG00000034101
AA Change: R317L
| 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 |
possibly damaging
Transcript: ENSMUST00000111696
AA Change: R317L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107325
Gene: ENSMUSG00000034101
AA Change: R317L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107326
Gene: ENSMUSG00000034101
AA Change: R317L
| 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 |
possibly damaging
Transcript: ENSMUST00000111698
AA Change: R253L
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107327
Gene: ENSMUSG00000034101
AA Change: R253L
| 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: R317L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645
AA Change: R317L
| 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 |
|
| Meta Mutation Damage Score |
0.2082 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
| Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
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 |
|
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 |
|
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 |
|
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'- TGAGGACCAATCAATCCCATTG -3'
(R):5'- TATAGGCCCAGCATGGAAGG -3'
Sequencing Primer
(F):5'- TGTAAAATCTTCCTCCATGGCAAC -3'
(R):5'- ACAAGATGTCTATGGGCCCCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation