Incidental Mutation 'IGL02984:Sh3tc1'
| ID |
453263 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02984 (G1)
|
| Quality Score |
41 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 35871403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070203
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
| 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 null
Transcript: ENSMUST00000070203
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
| 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 null
Transcript: ENSMUST00000127825
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
| 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 null
Transcript: ENSMUST00000127825
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
| 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: ENSMUST00000151555
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201511
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
| 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 null
Transcript: ENSMUST00000201511
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACCCTTTTCACCAAAGC -3'
(R):5'- ATAGCTGACTTCCAGGGCTCAG -3'
Sequencing Primer
(F):5'- CTTTTCACCAAAGCTGTAGAGC -3'
(R):5'- TCAGGCCCCGAAGAGATGTC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation