Incidental Mutation 'R9771:Sh3tc1'
| ID |
733435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35873654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 217
(F217C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070203
AA Change: F217C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: F217C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
SH3
|
312 |
371 |
1.72e-6 |
SMART |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
TPR
|
565 |
598 |
3.41e1 |
SMART |
|
Blast:TPR
|
607 |
639 |
2e-6 |
BLAST |
|
TPR
|
668 |
701 |
3.37e-2 |
SMART |
|
TPR
|
796 |
829 |
6.4e1 |
SMART |
|
Blast:TPR
|
874 |
902 |
2e-6 |
BLAST |
|
TPR
|
913 |
946 |
9.99e1 |
SMART |
|
TPR
|
1202 |
1235 |
4.31e0 |
SMART |
|
low complexity region
|
1266 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127288
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: F155C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
217 |
N/A |
INTRINSIC |
|
SH3
|
251 |
310 |
1.72e-6 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
|
TPR
|
504 |
537 |
3.41e1 |
SMART |
|
Blast:TPR
|
546 |
578 |
2e-6 |
BLAST |
|
TPR
|
607 |
640 |
3.37e-2 |
SMART |
|
TPR
|
735 |
768 |
6.4e1 |
SMART |
|
Blast:TPR
|
813 |
841 |
2e-6 |
BLAST |
|
TPR
|
852 |
885 |
9.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129664
|
| SMART Domains |
Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
42 |
N/A |
INTRINSIC |
|
SH3
|
76 |
130 |
2.41e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201511
AA Change: F217C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: F217C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
278 |
N/A |
INTRINSIC |
|
SH3
|
312 |
371 |
1.72e-6 |
SMART |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
TPR
|
565 |
598 |
3.41e1 |
SMART |
|
Blast:TPR
|
607 |
639 |
2e-6 |
BLAST |
|
TPR
|
668 |
701 |
3.37e-2 |
SMART |
|
TPR
|
796 |
829 |
6.4e1 |
SMART |
|
Blast:TPR
|
874 |
902 |
2e-6 |
BLAST |
|
TPR
|
913 |
946 |
9.99e1 |
SMART |
|
TPR
|
1202 |
1235 |
4.31e0 |
SMART |
|
low complexity region
|
1266 |
1277 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
| Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,129,693 (GRCm39) |
I568F |
probably benign |
Het |
| Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
| Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
| Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
| Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
| Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,872,903 (GRCm39) |
R263* |
probably null |
Het |
| Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,379,226 (GRCm39) |
Y100H |
probably damaging |
Het |
|
| Other mutations in Sh3tc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Sh3tc1
|
APN |
5 |
35,868,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01019:Sh3tc1
|
APN |
5 |
35,860,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Sh3tc1
|
APN |
5 |
35,857,660 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02069:Sh3tc1
|
APN |
5 |
35,876,339 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02153:Sh3tc1
|
APN |
5 |
35,860,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Sh3tc1
|
APN |
5 |
35,863,628 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02609:Sh3tc1
|
APN |
5 |
35,864,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02984:Sh3tc1
|
UTSW |
5 |
35,871,403 (GRCm39) |
splice site |
probably null |
|
|
R0280:Sh3tc1
|
UTSW |
5 |
35,863,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Sh3tc1
|
UTSW |
5 |
35,881,343 (GRCm39) |
missense |
probably benign |
|
|
R0322:Sh3tc1
|
UTSW |
5 |
35,863,905 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0485:Sh3tc1
|
UTSW |
5 |
35,859,356 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Sh3tc1
|
UTSW |
5 |
35,860,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Sh3tc1
|
UTSW |
5 |
35,857,651 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0523:Sh3tc1
|
UTSW |
5 |
35,881,410 (GRCm39) |
small deletion |
probably benign |
|
|
R0550:Sh3tc1
|
UTSW |
5 |
35,857,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0676:Sh3tc1
|
UTSW |
5 |
35,876,458 (GRCm39) |
splice site |
probably benign |
|
|
R1485:Sh3tc1
|
UTSW |
5 |
35,876,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1559:Sh3tc1
|
UTSW |
5 |
35,860,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1599:Sh3tc1
|
UTSW |
5 |
35,864,856 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1759:Sh3tc1
|
UTSW |
5 |
35,863,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1808:Sh3tc1
|
UTSW |
5 |
35,863,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1816:Sh3tc1
|
UTSW |
5 |
35,857,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2036:Sh3tc1
|
UTSW |
5 |
35,873,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2092:Sh3tc1
|
UTSW |
5 |
35,858,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Sh3tc1
|
UTSW |
5 |
35,871,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Sh3tc1
|
UTSW |
5 |
35,864,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4556:Sh3tc1
|
UTSW |
5 |
35,864,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Sh3tc1
|
UTSW |
5 |
35,863,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Sh3tc1
|
UTSW |
5 |
35,857,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Sh3tc1
|
UTSW |
5 |
35,864,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6023:Sh3tc1
|
UTSW |
5 |
35,864,295 (GRCm39) |
nonsense |
probably null |
|
|
R6164:Sh3tc1
|
UTSW |
5 |
35,863,590 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6262:Sh3tc1
|
UTSW |
5 |
35,857,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Sh3tc1
|
UTSW |
5 |
35,863,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6932:Sh3tc1
|
UTSW |
5 |
35,864,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6986:Sh3tc1
|
UTSW |
5 |
35,881,288 (GRCm39) |
missense |
probably benign |
|
|
R7098:Sh3tc1
|
UTSW |
5 |
35,859,358 (GRCm39) |
splice site |
probably null |
|
|
R7502:Sh3tc1
|
UTSW |
5 |
35,863,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7737:Sh3tc1
|
UTSW |
5 |
35,881,297 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7792:Sh3tc1
|
UTSW |
5 |
35,868,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8079:Sh3tc1
|
UTSW |
5 |
35,864,201 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8154:Sh3tc1
|
UTSW |
5 |
35,875,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Sh3tc1
|
UTSW |
5 |
35,863,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8300:Sh3tc1
|
UTSW |
5 |
35,854,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8416:Sh3tc1
|
UTSW |
5 |
35,868,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8459:Sh3tc1
|
UTSW |
5 |
35,878,933 (GRCm39) |
missense |
probably benign |
|
|
R8699:Sh3tc1
|
UTSW |
5 |
35,859,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Sh3tc1
|
UTSW |
5 |
35,863,802 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8782:Sh3tc1
|
UTSW |
5 |
35,871,548 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9044:Sh3tc1
|
UTSW |
5 |
35,854,834 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9047:Sh3tc1
|
UTSW |
5 |
35,863,827 (GRCm39) |
missense |
probably benign |
|
|
R9092:Sh3tc1
|
UTSW |
5 |
35,874,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0061:Sh3tc1
|
UTSW |
5 |
35,864,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sh3tc1
|
UTSW |
5 |
35,871,573 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTACTGGTGAAATGGAGTCAAG -3'
(R):5'- ACTGAGGCTGGACTTCCTTC -3'
Sequencing Primer
(F):5'- AAATGGAGTCAAGGGCTCTGGTTC -3'
(R):5'- TCCTTCGGGCCTTCAGACAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation