Incidental Mutation 'R6164:Sh3tc1'
ID |
490033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc1
|
Ensembl Gene |
ENSMUSG00000036553 |
Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
Synonyms |
|
MMRRC Submission |
044310-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6164 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 35863590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 866
(V866L)
|
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: V866L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000070610 Gene: ENSMUSG00000036553 AA Change: V866L
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: V804L
|
SMART Domains |
Protein: ENSMUSP00000115376 Gene: ENSMUSG00000036553 AA Change: V804L
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 benign
Transcript: ENSMUST00000201511
AA Change: V866L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553 AA Change: V866L
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 |
0.1349 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anpep |
A |
G |
7: 79,491,953 (GRCm39) |
I16T |
possibly damaging |
Het |
Ap1s1 |
T |
C |
5: 137,066,240 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
C |
1: 172,106,459 (GRCm39) |
S848G |
probably damaging |
Het |
Bche |
T |
A |
3: 73,608,389 (GRCm39) |
I346F |
possibly damaging |
Het |
Ccdc148 |
T |
A |
2: 58,713,645 (GRCm39) |
Y502F |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,919,642 (GRCm39) |
M416V |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,071,331 (GRCm39) |
S351P |
probably benign |
Het |
Cfap100 |
T |
C |
6: 90,392,768 (GRCm39) |
E114G |
probably benign |
Het |
Clec4a4 |
T |
C |
6: 122,968,833 (GRCm39) |
I66T |
possibly damaging |
Het |
Cpeb4 |
T |
C |
11: 31,870,584 (GRCm39) |
|
probably null |
Het |
Cybrd1 |
T |
C |
2: 70,948,618 (GRCm39) |
V52A |
probably damaging |
Het |
Decr1 |
G |
A |
4: 15,924,347 (GRCm39) |
A191V |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,378,489 (GRCm39) |
I2942L |
probably benign |
Het |
Ehd4 |
C |
T |
2: 119,932,689 (GRCm39) |
V246I |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 64,020,158 (GRCm39) |
|
probably benign |
Het |
Exoc4 |
T |
A |
6: 33,309,218 (GRCm39) |
M280K |
probably damaging |
Het |
Fmo1 |
T |
G |
1: 162,678,979 (GRCm39) |
E89A |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,350,898 (GRCm39) |
D733G |
probably benign |
Het |
Garin5b |
T |
C |
7: 4,773,677 (GRCm39) |
T73A |
probably damaging |
Het |
Gulp1 |
A |
C |
1: 44,793,511 (GRCm39) |
R57S |
probably damaging |
Het |
Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
Hdac4 |
G |
T |
1: 91,957,876 (GRCm39) |
A46E |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,241,966 (GRCm39) |
S567P |
possibly damaging |
Het |
Insyn1 |
C |
A |
9: 58,406,530 (GRCm39) |
P147T |
probably damaging |
Het |
Iqgap1 |
A |
C |
7: 80,458,854 (GRCm39) |
C21W |
unknown |
Het |
Isoc2a |
T |
C |
7: 4,894,488 (GRCm39) |
L57P |
probably damaging |
Het |
Krt34 |
G |
A |
11: 99,929,272 (GRCm39) |
Q313* |
probably null |
Het |
Krt6a |
C |
T |
15: 101,601,008 (GRCm39) |
V263I |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 65,040,719 (GRCm39) |
I106V |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,469,675 (GRCm39) |
D7300G |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,417,082 (GRCm39) |
S3343C |
possibly damaging |
Het |
Mup11 |
C |
T |
4: 60,618,239 (GRCm39) |
E21K |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 70,075,754 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,095,507 (GRCm39) |
L795P |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,548,220 (GRCm39) |
Y984* |
probably null |
Het |
Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
Or2d3 |
G |
T |
7: 106,491,135 (GRCm39) |
Y60* |
probably null |
Het |
Or5p52 |
A |
G |
7: 107,502,595 (GRCm39) |
T224A |
probably benign |
Het |
Osmr |
A |
G |
15: 6,889,833 (GRCm39) |
V5A |
probably benign |
Het |
Pabir1 |
T |
A |
19: 24,454,450 (GRCm39) |
M91L |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,814,317 (GRCm39) |
|
probably null |
Het |
Pex11a |
G |
A |
7: 79,387,127 (GRCm39) |
T235M |
probably damaging |
Het |
Pik3r6 |
A |
G |
11: 68,442,799 (GRCm39) |
T730A |
probably benign |
Het |
Ppp1r9a |
C |
T |
6: 5,110,715 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
T |
C |
7: 138,474,742 (GRCm39) |
I41T |
probably damaging |
Het |
Prdm1 |
C |
T |
10: 44,326,191 (GRCm39) |
R126H |
probably damaging |
Het |
Primpol |
C |
T |
8: 47,039,477 (GRCm39) |
R381H |
probably benign |
Het |
Prl7a1 |
C |
A |
13: 27,821,626 (GRCm39) |
Q102H |
probably benign |
Het |
Rbpjl |
T |
C |
2: 164,252,799 (GRCm39) |
L284P |
probably damaging |
Het |
Rgs21 |
A |
T |
1: 144,417,035 (GRCm39) |
C6S |
probably benign |
Het |
Rnasel |
T |
C |
1: 153,630,138 (GRCm39) |
V218A |
probably benign |
Het |
Sag |
G |
T |
1: 87,752,175 (GRCm39) |
V223L |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,117,824 (GRCm39) |
T1574M |
probably damaging |
Het |
Secisbp2 |
G |
A |
13: 51,833,896 (GRCm39) |
V679M |
probably damaging |
Het |
Sele |
T |
A |
1: 163,879,386 (GRCm39) |
|
probably null |
Het |
Senp7 |
T |
A |
16: 55,990,117 (GRCm39) |
L622M |
probably damaging |
Het |
Sgo1 |
G |
A |
17: 53,983,981 (GRCm39) |
R466C |
probably damaging |
Het |
Snrnp25 |
T |
A |
11: 32,157,647 (GRCm39) |
V75D |
probably benign |
Het |
Syne1 |
C |
T |
10: 5,011,429 (GRCm39) |
C7899Y |
probably damaging |
Het |
U2af1l4 |
T |
C |
7: 30,264,007 (GRCm39) |
S55P |
probably damaging |
Het |
Vmn1r23 |
A |
G |
6: 57,903,040 (GRCm39) |
I246T |
possibly damaging |
Het |
Vmn1r66 |
T |
A |
7: 10,008,329 (GRCm39) |
R235* |
probably null |
Het |
Wnk4 |
C |
T |
11: 101,165,894 (GRCm39) |
A807V |
possibly 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 |
|
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'- ACACAGGGCCCCAAAGTTAG -3'
(R):5'- CCAGATTGCTTACTACCTCAGACAG -3'
Sequencing Primer
(F):5'- AGTTAGCCAGGACCACTGC -3'
(R):5'- AGCCTGGCTCAACTGTACAGTC -3'
|
Posted On |
2017-10-10 |