Incidental Mutation 'IGL02069:Sh3tc1'
ID |
283335 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3tc1
|
Ensembl Gene |
ENSMUSG00000036553 |
Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02069
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35876339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 122
(R122Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
AlphaFold |
G3X9F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: R122Q
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000070610 Gene: ENSMUSG00000036553 AA Change: R122Q
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 |
unknown
Transcript: ENSMUST00000127825
AA Change: R60Q
|
SMART Domains |
Protein: ENSMUSP00000115376 Gene: ENSMUSG00000036553 AA Change: R60Q
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 |
noncoding transcript
Transcript: ENSMUST00000135451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201511
AA Change: R122Q
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553 AA Change: R122Q
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
A |
7: 78,742,500 (GRCm39) |
V569M |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,605,805 (GRCm39) |
V2016A |
probably benign |
Het |
Apcdd1 |
T |
A |
18: 63,083,054 (GRCm39) |
W295R |
probably damaging |
Het |
Arid5b |
T |
A |
10: 67,933,229 (GRCm39) |
D648V |
probably damaging |
Het |
C2cd6 |
A |
G |
1: 59,091,700 (GRCm39) |
|
probably benign |
Het |
Cst12 |
A |
T |
2: 148,634,368 (GRCm39) |
D101V |
probably damaging |
Het |
Cyp46a1 |
T |
A |
12: 108,312,394 (GRCm39) |
Y135N |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,161,007 (GRCm39) |
S1046G |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,935,745 (GRCm39) |
Y122* |
probably null |
Het |
Disp2 |
T |
A |
2: 118,621,161 (GRCm39) |
I631N |
possibly damaging |
Het |
Dna2 |
A |
G |
10: 62,794,773 (GRCm39) |
I387V |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,601,053 (GRCm39) |
|
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,873,949 (GRCm39) |
F954S |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,779,731 (GRCm39) |
G560D |
probably benign |
Het |
Fancm |
C |
A |
12: 65,122,685 (GRCm39) |
A69D |
probably benign |
Het |
Fbxo34 |
T |
A |
14: 47,767,070 (GRCm39) |
D143E |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,100,667 (GRCm39) |
R144* |
probably null |
Het |
Fip1l1 |
A |
G |
5: 74,752,534 (GRCm39) |
D402G |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,821,788 (GRCm39) |
S2107P |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,980,763 (GRCm39) |
N621S |
possibly damaging |
Het |
Hddc2 |
G |
A |
10: 31,192,314 (GRCm39) |
D54N |
probably damaging |
Het |
Ighm |
T |
A |
12: 113,384,768 (GRCm39) |
|
probably benign |
Het |
Il17d |
G |
T |
14: 57,779,972 (GRCm39) |
E165* |
probably null |
Het |
Kmt5b |
A |
T |
19: 3,857,335 (GRCm39) |
K364M |
probably damaging |
Het |
Ldb1 |
C |
A |
19: 46,021,617 (GRCm39) |
W390L |
possibly damaging |
Het |
Lgmn |
T |
C |
12: 102,370,558 (GRCm39) |
E124G |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,933,806 (GRCm39) |
|
probably benign |
Het |
Pga5 |
C |
T |
19: 10,646,763 (GRCm39) |
G323S |
possibly damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,491,044 (GRCm39) |
T962A |
probably benign |
Het |
Ptger1 |
A |
G |
8: 84,396,086 (GRCm39) |
E381G |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,624,761 (GRCm39) |
|
probably benign |
Het |
Serpine2 |
T |
A |
1: 79,799,129 (GRCm39) |
I42F |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,579,613 (GRCm39) |
I347V |
probably benign |
Het |
Snx4 |
T |
C |
16: 33,084,725 (GRCm39) |
Y80H |
probably damaging |
Het |
Spata16 |
C |
A |
3: 26,786,944 (GRCm39) |
C207* |
probably null |
Het |
Syne2 |
A |
G |
12: 75,974,186 (GRCm39) |
Q1128R |
probably benign |
Het |
Tamalin |
A |
G |
15: 101,122,346 (GRCm39) |
Y55C |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,968,718 (GRCm39) |
N405I |
probably damaging |
Het |
Upp2 |
A |
G |
2: 58,661,429 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |