Incidental Mutation 'R8754:Sh3tc1'
| ID |
664027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
068620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8754 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35863802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 795
(R795L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: R795L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: R795L
| 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 |
probably damaging
Transcript: ENSMUST00000127825
AA Change: R733L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: R733L
| 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 benign
Transcript: ENSMUST00000201511
AA Change: R795L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: R795L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,798 (GRCm39) |
V329A |
probably benign |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,472 (GRCm39) |
K148N |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,913,488 (GRCm39) |
F648L |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,597,358 (GRCm39) |
D39G |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,214,984 (GRCm39) |
T477K |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,476,664 (GRCm39) |
S271T |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Chrna6 |
T |
C |
8: 27,897,229 (GRCm39) |
H216R |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Copa |
C |
T |
1: 171,935,926 (GRCm39) |
R423W |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,037 (GRCm39) |
I607R |
possibly damaging |
Het |
| Depdc5 |
A |
T |
5: 33,136,881 (GRCm39) |
T1384S |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dusp26 |
C |
T |
8: 31,581,805 (GRCm39) |
|
probably benign |
Het |
| Eif1ad13 |
T |
A |
12: 87,762,569 (GRCm39) |
N96K |
possibly damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Fuca1 |
T |
C |
4: 135,652,889 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,581,693 (GRCm39) |
V391I |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,428,175 (GRCm39) |
Y771N |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,417 (GRCm39) |
T523A |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,865 (GRCm39) |
Q58* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 941,594 (GRCm39) |
V1265A |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,829,024 (GRCm39) |
L726Q |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,912 (GRCm39) |
I247N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,897,115 (GRCm39) |
N159K |
probably benign |
Het |
| Krtap4-7 |
G |
T |
11: 99,534,667 (GRCm39) |
C65* |
probably null |
Het |
| Lama2 |
C |
T |
10: 26,877,147 (GRCm39) |
V2680M |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,088,007 (GRCm39) |
M61L |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,188,896 (GRCm39) |
M123T |
possibly damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,611 (GRCm39) |
N206S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,602,356 (GRCm39) |
N1390Y |
|
Het |
| Muc5ac |
C |
T |
7: 141,354,008 (GRCm39) |
A869V |
possibly damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,290 (GRCm39) |
V133A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,077,787 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
T |
7: 44,200,768 (GRCm39) |
A287T |
probably damaging |
Het |
| Or8c16 |
A |
T |
9: 38,130,865 (GRCm39) |
I246L |
possibly damaging |
Het |
| Patl1 |
A |
G |
19: 11,899,898 (GRCm39) |
E230G |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,355,235 (GRCm39) |
S585P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,278 (GRCm39) |
W165R |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,773,464 (GRCm39) |
D628E |
probably benign |
Het |
| Pigo |
T |
A |
4: 43,024,724 (GRCm39) |
H125L |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,847,924 (GRCm39) |
*313K |
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,846,337 (GRCm39) |
M169K |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,151,496 (GRCm38) |
I437T |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Rnf123 |
T |
A |
9: 107,948,363 (GRCm39) |
D110V |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,368,052 (GRCm39) |
F209I |
probably benign |
Het |
| Rpl4 |
A |
T |
9: 64,082,242 (GRCm39) |
N47I |
probably damaging |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,512 (GRCm39) |
F151L |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,603,191 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,126 (GRCm39) |
N80D |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,521,116 (GRCm39) |
T7S |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,005 (GRCm39) |
Y834C |
probably damaging |
Het |
| Ss18 |
G |
C |
18: 14,774,016 (GRCm39) |
Q258E |
probably damaging |
Het |
| Telo2 |
G |
A |
17: 25,321,041 (GRCm39) |
L725F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,934,882 (GRCm39) |
E2497G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,163,360 (GRCm39) |
D111G |
|
Het |
| Trim16 |
G |
A |
11: 62,731,763 (GRCm39) |
E545K |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,664,623 (GRCm39) |
W919R |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,756,127 (GRCm39) |
S1301* |
probably null |
Het |
| Txk |
T |
C |
5: 72,889,122 (GRCm39) |
N144S |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,473,090 (GRCm39) |
V515E |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,581,162 (GRCm39) |
R3681* |
probably null |
Het |
| Ythdf3 |
A |
T |
3: 16,258,138 (GRCm39) |
N106I |
probably damaging |
Het |
| Zfp367 |
A |
T |
13: 64,292,069 (GRCm39) |
C187* |
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,603,000 (GRCm39) |
D648G |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,244,701 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,223,826 (GRCm39) |
S424P |
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 |
|
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 |
|
R9771:Sh3tc1
|
UTSW |
5 |
35,873,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTGTTCCCACAAAGCATG -3'
(R):5'- GACATTTATGGCCGGAAATGC -3'
Sequencing Primer
(F):5'- AGCATGTGCAACCAGGC -3'
(R):5'- AAATGCCTGCCCCATCTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation