Incidental Mutation 'IGL01547:Csmd3'
ID |
90369 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csmd3
|
Ensembl Gene |
ENSMUSG00000022311 |
Gene Name |
CUB and Sushi multiple domains 3 |
Synonyms |
4930500N14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01547
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
47580637-48792063 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47883617 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1322
(I1322V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100670]
[ENSMUST00000160658]
[ENSMUST00000162830]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100670
AA Change: I1426V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098235 Gene: ENSMUSG00000022311 AA Change: I1426V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
low complexity region
|
370 |
387 |
N/A |
INTRINSIC |
CCP
|
486 |
543 |
6.9e-14 |
SMART |
CUB
|
548 |
659 |
9.22e-24 |
SMART |
CCP
|
664 |
717 |
1.29e-13 |
SMART |
CUB
|
721 |
829 |
6.87e-32 |
SMART |
CCP
|
834 |
891 |
5.19e-9 |
SMART |
CUB
|
895 |
1003 |
3.23e-37 |
SMART |
CCP
|
1010 |
1063 |
1.82e-13 |
SMART |
CUB
|
1067 |
1177 |
4.87e-23 |
SMART |
CCP
|
1182 |
1237 |
1.82e-13 |
SMART |
CUB
|
1241 |
1349 |
5.02e-25 |
SMART |
CCP
|
1354 |
1410 |
2.5e-11 |
SMART |
CUB
|
1414 |
1523 |
6.27e-26 |
SMART |
CCP
|
1528 |
1584 |
4.41e-12 |
SMART |
CUB
|
1588 |
1696 |
5.37e-34 |
SMART |
CCP
|
1701 |
1758 |
1.18e-12 |
SMART |
CUB
|
1762 |
1870 |
2.27e-23 |
SMART |
CCP
|
1878 |
1935 |
1.84e-9 |
SMART |
CUB
|
1939 |
2047 |
1.8e-35 |
SMART |
CCP
|
2052 |
2107 |
4.48e-13 |
SMART |
CUB
|
2111 |
2219 |
3.95e-32 |
SMART |
CCP
|
2224 |
2279 |
4.02e-15 |
SMART |
CUB
|
2283 |
2390 |
1.74e-33 |
SMART |
CCP
|
2395 |
2452 |
5.82e-12 |
SMART |
CUB
|
2457 |
2567 |
5.3e-24 |
SMART |
CCP
|
2569 |
2627 |
2.11e-9 |
SMART |
CCP
|
2632 |
2689 |
8.23e-12 |
SMART |
CCP
|
2694 |
2754 |
8.56e-10 |
SMART |
CCP
|
2759 |
2812 |
1.14e-14 |
SMART |
CCP
|
2817 |
2870 |
4.76e-17 |
SMART |
CCP
|
2875 |
2928 |
1.85e-14 |
SMART |
CCP
|
2933 |
2990 |
9.9e-15 |
SMART |
CCP
|
2995 |
3048 |
1.79e-12 |
SMART |
CCP
|
3056 |
3109 |
1.72e-14 |
SMART |
CCP
|
3114 |
3168 |
3.17e-13 |
SMART |
CCP
|
3173 |
3228 |
1.25e-11 |
SMART |
CCP
|
3233 |
3286 |
1.25e-11 |
SMART |
CCP
|
3291 |
3344 |
8.23e-12 |
SMART |
CCP
|
3352 |
3406 |
5.6e-14 |
SMART |
CCP
|
3411 |
3466 |
1.89e-11 |
SMART |
transmembrane domain
|
3630 |
3652 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160658
AA Change: I1322V
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124753 Gene: ENSMUSG00000022311 AA Change: I1322V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
CCP
|
382 |
439 |
6.9e-14 |
SMART |
CUB
|
444 |
555 |
9.22e-24 |
SMART |
CCP
|
560 |
613 |
1.29e-13 |
SMART |
CUB
|
617 |
725 |
6.87e-32 |
SMART |
CCP
|
730 |
787 |
5.19e-9 |
SMART |
CUB
|
791 |
899 |
3.23e-37 |
SMART |
CCP
|
906 |
959 |
1.82e-13 |
SMART |
CUB
|
963 |
1073 |
4.87e-23 |
SMART |
CCP
|
1078 |
1133 |
1.82e-13 |
SMART |
CUB
|
1137 |
1245 |
5.02e-25 |
SMART |
CCP
|
1250 |
1306 |
2.5e-11 |
SMART |
CUB
|
1310 |
1419 |
6.27e-26 |
SMART |
CCP
|
1424 |
1480 |
4.41e-12 |
SMART |
CUB
|
1484 |
1592 |
5.37e-34 |
SMART |
CCP
|
1597 |
1654 |
1.18e-12 |
SMART |
CUB
|
1658 |
1766 |
2.27e-23 |
SMART |
CCP
|
1774 |
1831 |
1.84e-9 |
SMART |
CUB
|
1835 |
1943 |
1.8e-35 |
SMART |
CCP
|
1948 |
2003 |
4.48e-13 |
SMART |
CUB
|
2007 |
2115 |
3.95e-32 |
SMART |
CCP
|
2120 |
2175 |
4.02e-15 |
SMART |
CUB
|
2179 |
2286 |
1.74e-33 |
SMART |
CCP
|
2291 |
2348 |
5.82e-12 |
SMART |
CUB
|
2353 |
2463 |
5.3e-24 |
SMART |
CCP
|
2465 |
2523 |
2.11e-9 |
SMART |
CCP
|
2528 |
2585 |
8.23e-12 |
SMART |
CCP
|
2590 |
2643 |
1.14e-14 |
SMART |
CCP
|
2648 |
2701 |
4.76e-17 |
SMART |
CCP
|
2706 |
2759 |
1.85e-14 |
SMART |
CCP
|
2764 |
2821 |
9.9e-15 |
SMART |
CCP
|
2826 |
2879 |
1.79e-12 |
SMART |
CCP
|
2887 |
2940 |
1.72e-14 |
SMART |
CCP
|
2945 |
2999 |
3.17e-13 |
SMART |
CCP
|
3004 |
3059 |
1.25e-11 |
SMART |
CCP
|
3064 |
3117 |
1.25e-11 |
SMART |
CCP
|
3122 |
3175 |
8.23e-12 |
SMART |
CCP
|
3183 |
3237 |
5.6e-14 |
SMART |
CCP
|
3242 |
3297 |
1.89e-11 |
SMART |
transmembrane domain
|
3461 |
3483 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161653
AA Change: I585V
|
SMART Domains |
Protein: ENSMUSP00000124195 Gene: ENSMUSG00000022311 AA Change: I585V
Domain | Start | End | E-Value | Type |
CCP
|
1 |
51 |
6.59e-1 |
SMART |
CUB
|
55 |
163 |
3.23e-37 |
SMART |
CCP
|
170 |
223 |
1.82e-13 |
SMART |
CUB
|
227 |
337 |
4.87e-23 |
SMART |
CCP
|
342 |
397 |
1.82e-13 |
SMART |
CUB
|
401 |
509 |
5.02e-25 |
SMART |
CCP
|
514 |
570 |
2.5e-11 |
SMART |
CUB
|
574 |
683 |
6.27e-26 |
SMART |
CCP
|
688 |
744 |
4.41e-12 |
SMART |
CUB
|
748 |
856 |
5.37e-34 |
SMART |
CCP
|
861 |
918 |
1.18e-12 |
SMART |
Pfam:CUB
|
922 |
964 |
9.7e-8 |
PFAM |
CCP
|
968 |
1025 |
1.84e-9 |
SMART |
CUB
|
1029 |
1137 |
1.8e-35 |
SMART |
CCP
|
1142 |
1197 |
4.48e-13 |
SMART |
CUB
|
1201 |
1309 |
3.95e-32 |
SMART |
CCP
|
1314 |
1369 |
4.02e-15 |
SMART |
CUB
|
1373 |
1480 |
1.74e-33 |
SMART |
CCP
|
1485 |
1542 |
5.82e-12 |
SMART |
CUB
|
1547 |
1657 |
5.3e-24 |
SMART |
CCP
|
1659 |
1717 |
2.11e-9 |
SMART |
CCP
|
1722 |
1779 |
8.23e-12 |
SMART |
CCP
|
1784 |
1844 |
8.56e-10 |
SMART |
CCP
|
1849 |
1902 |
1.14e-14 |
SMART |
CCP
|
1907 |
1960 |
4.76e-17 |
SMART |
CCP
|
1965 |
2018 |
1.85e-14 |
SMART |
CCP
|
2023 |
2080 |
9.9e-15 |
SMART |
CCP
|
2085 |
2138 |
1.79e-12 |
SMART |
CCP
|
2146 |
2199 |
1.72e-14 |
SMART |
CCP
|
2204 |
2258 |
3.17e-13 |
SMART |
CCP
|
2263 |
2318 |
1.25e-11 |
SMART |
CCP
|
2323 |
2376 |
1.25e-11 |
SMART |
CCP
|
2381 |
2434 |
8.23e-12 |
SMART |
CCP
|
2442 |
2496 |
5.6e-14 |
SMART |
CCP
|
2501 |
2556 |
1.89e-11 |
SMART |
transmembrane domain
|
2720 |
2742 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162830
AA Change: I1426V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124775 Gene: ENSMUSG00000022311 AA Change: I1426V
Domain | Start | End | E-Value | Type |
CUB
|
65 |
173 |
8.79e-30 |
SMART |
CCP
|
178 |
235 |
1.77e-11 |
SMART |
CUB
|
241 |
345 |
2.29e-28 |
SMART |
low complexity region
|
370 |
387 |
N/A |
INTRINSIC |
CCP
|
486 |
543 |
6.9e-14 |
SMART |
CUB
|
548 |
659 |
9.22e-24 |
SMART |
CCP
|
664 |
717 |
1.29e-13 |
SMART |
CUB
|
721 |
829 |
6.87e-32 |
SMART |
CCP
|
834 |
891 |
5.19e-9 |
SMART |
CUB
|
895 |
1003 |
3.23e-37 |
SMART |
CCP
|
1010 |
1063 |
1.82e-13 |
SMART |
CUB
|
1067 |
1177 |
4.87e-23 |
SMART |
CCP
|
1182 |
1237 |
1.82e-13 |
SMART |
CUB
|
1241 |
1349 |
5.02e-25 |
SMART |
CCP
|
1354 |
1410 |
2.5e-11 |
SMART |
CUB
|
1414 |
1523 |
6.27e-26 |
SMART |
CCP
|
1528 |
1584 |
4.41e-12 |
SMART |
CUB
|
1588 |
1696 |
5.37e-34 |
SMART |
CCP
|
1701 |
1758 |
1.18e-12 |
SMART |
CUB
|
1762 |
1870 |
2.27e-23 |
SMART |
CCP
|
1878 |
1935 |
1.84e-9 |
SMART |
CUB
|
1939 |
2047 |
1.8e-35 |
SMART |
CCP
|
2052 |
2107 |
4.48e-13 |
SMART |
CUB
|
2111 |
2219 |
3.95e-32 |
SMART |
CCP
|
2224 |
2279 |
4.02e-15 |
SMART |
CUB
|
2283 |
2390 |
1.74e-33 |
SMART |
CCP
|
2395 |
2452 |
5.82e-12 |
SMART |
CUB
|
2457 |
2567 |
5.3e-24 |
SMART |
CCP
|
2569 |
2627 |
2.11e-9 |
SMART |
CCP
|
2632 |
2689 |
8.23e-12 |
SMART |
CCP
|
2694 |
2754 |
8.56e-10 |
SMART |
CCP
|
2759 |
2812 |
1.14e-14 |
SMART |
CCP
|
2817 |
2870 |
4.76e-17 |
SMART |
CCP
|
2875 |
2928 |
1.85e-14 |
SMART |
CCP
|
2933 |
2990 |
9.9e-15 |
SMART |
CCP
|
2995 |
3048 |
1.79e-12 |
SMART |
CCP
|
3056 |
3109 |
1.72e-14 |
SMART |
CCP
|
3114 |
3168 |
3.17e-13 |
SMART |
CCP
|
3173 |
3228 |
1.25e-11 |
SMART |
CCP
|
3233 |
3286 |
1.25e-11 |
SMART |
CCP
|
3291 |
3344 |
8.23e-12 |
SMART |
CCP
|
3352 |
3406 |
5.6e-14 |
SMART |
CCP
|
3411 |
3466 |
1.89e-11 |
SMART |
transmembrane domain
|
3630 |
3652 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
G |
A |
4: 137,455,262 |
G243R |
possibly damaging |
Het |
Afg3l1 |
T |
C |
8: 123,501,351 |
V625A |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,737,815 |
|
probably benign |
Het |
Bag1 |
A |
G |
4: 40,936,661 |
C332R |
probably damaging |
Het |
Bcas2 |
T |
C |
3: 103,171,999 |
Y49H |
probably damaging |
Het |
Cacna1b |
C |
A |
2: 24,632,035 |
|
probably benign |
Het |
Cdyl |
A |
G |
13: 35,790,162 |
D53G |
possibly damaging |
Het |
Evc2 |
C |
A |
5: 37,393,087 |
A815E |
probably benign |
Het |
Gm6309 |
C |
T |
5: 146,168,411 |
D231N |
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,357,599 |
P305S |
probably damaging |
Het |
Olfr301 |
A |
G |
7: 86,412,871 |
N170D |
possibly damaging |
Het |
Olfr639 |
A |
T |
7: 104,012,660 |
I14N |
probably benign |
Het |
Olfr77 |
A |
T |
9: 19,920,901 |
I231F |
probably benign |
Het |
Pcdhb1 |
A |
G |
18: 37,267,342 |
H782R |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,744,942 |
S480P |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,418,429 |
T1085A |
probably benign |
Het |
Sema6c |
C |
T |
3: 95,172,398 |
R668C |
probably damaging |
Het |
Tas2r123 |
C |
T |
6: 132,847,458 |
T106I |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 121,049,202 |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,704,424 |
I97N |
possibly damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,538,104 |
K644N |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 54,894,449 |
|
probably null |
Het |
|
Other mutations in Csmd3 |
|
Posted On |
2013-12-03 |