Incidental Mutation 'R9092:Sh3tc1'
| ID |
691059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
068908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35874321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 198
(N198S)
|
| 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: N198S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: N198S
| 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: N136S
| 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: N198S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: N198S
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
93% (56/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chl1 |
T |
C |
6: 103,645,815 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,239,628 (GRCm39) |
M575V |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,671 (GRCm39) |
N22I |
probably damaging |
Het |
| Dcun1d2 |
G |
A |
8: 13,307,935 (GRCm39) |
R248W |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,199,860 (GRCm39) |
H7Q |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,307,004 (GRCm39) |
D30G |
probably benign |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,616,874 (GRCm39) |
S705P |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,041,214 (GRCm39) |
S977N |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,089,993 (GRCm39) |
D448A |
probably benign |
Het |
| Fam216b |
T |
C |
14: 78,322,537 (GRCm39) |
T56A |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,886,391 (GRCm39) |
T408A |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,740,364 (GRCm39) |
V552E |
|
Het |
| Gab3 |
CTT |
CTTGTT |
X: 74,043,612 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,602 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,780,196 (GRCm39) |
K622E |
probably benign |
Het |
| Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
A |
AGATGCGCCCG |
4: 127,220,471 (GRCm39) |
|
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,536,345 (GRCm39) |
R93S |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,318,241 (GRCm39) |
*87Q |
probably null |
Het |
| Il7r |
T |
A |
15: 9,510,270 (GRCm39) |
H261L |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,609,002 (GRCm39) |
M250K |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,893,887 (GRCm39) |
D88G |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,096,421 (GRCm39) |
T72K |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,581,599 (GRCm39) |
R371L |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,118,587 (GRCm39) |
F158L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,455,475 (GRCm39) |
L242Q |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,054,414 (GRCm39) |
|
probably null |
Het |
| Noc3l |
T |
A |
19: 38,798,487 (GRCm39) |
K305I |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pam |
A |
G |
1: 97,791,976 (GRCm39) |
S482P |
probably benign |
Het |
| Pax1 |
T |
G |
2: 147,204,287 (GRCm39) |
W23G |
unknown |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,989 (GRCm39) |
V160D |
possibly damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,280,125 (GRCm39) |
D719G |
probably damaging |
Het |
| Phlda1 |
T |
C |
10: 111,342,474 (GRCm39) |
L70S |
possibly damaging |
Het |
| Pikfyve |
G |
A |
1: 65,283,559 (GRCm39) |
R732K |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,788,347 (GRCm39) |
V702F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,632,586 (GRCm39) |
Y610H |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,101,508 (GRCm39) |
H87Q |
probably benign |
Het |
| Runx2 |
C |
A |
17: 45,046,443 (GRCm39) |
D109Y |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,696,540 (GRCm39) |
I290F |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slc27a6 |
C |
A |
18: 58,742,330 (GRCm39) |
R515S |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,445,004 (GRCm39) |
V25I |
probably benign |
Het |
| Speg |
A |
G |
1: 75,399,378 (GRCm39) |
E2275G |
probably benign |
Het |
| Tmem161b |
C |
T |
13: 84,440,503 (GRCm39) |
T307I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,678,581 (GRCm39) |
D361G |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,495 (GRCm39) |
T326A |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,726,916 (GRCm39) |
V295A |
possibly damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,003 (GRCm39) |
I1158N |
|
Het |
| Utp20 |
C |
A |
10: 88,604,679 (GRCm39) |
A1739S |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,110 (GRCm39) |
I308F |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,807 (GRCm39) |
T198S |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,281,593 (GRCm39) |
I318T |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,226,451 (GRCm39) |
W750R |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,648 (GRCm39) |
I764T |
probably benign |
Het |
| Zfp708 |
C |
A |
13: 67,218,564 (GRCm39) |
D420Y |
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 |
|
|
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'- CTCAGGCAAGTGTGAGCATAG -3'
(R):5'- TAGCATGTCAGGGACCTCTC -3'
Sequencing Primer
(F):5'- CACCTTTTTGGGGAGCCATAAAC -3'
(R):5'- CTCTCCAGGTCCGGTGTTTGAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation