Incidental Mutation 'R2036:Sh3tc1'
ID |
224612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc1
|
Ensembl Gene |
ENSMUSG00000036553 |
Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
Synonyms |
|
MMRRC Submission |
040043-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R2036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35873508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 30
(S30P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
AlphaFold |
G3X9F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: S266P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000070610 Gene: ENSMUSG00000036553 AA Change: S266P
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: S204P
|
SMART Domains |
Protein: ENSMUSP00000115376 Gene: ENSMUSG00000036553 AA Change: S204P
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
AA Change: S30P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000119811 Gene: ENSMUSG00000036553 AA Change: S30P
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: S266P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553 AA Change: S266P
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 |
0.1095 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930415H17Rik |
C |
T |
11: 99,576,358 (GRCm39) |
C3Y |
unknown |
Het |
Abr |
G |
T |
11: 76,343,176 (GRCm39) |
T547K |
probably benign |
Het |
Akr1c21 |
T |
C |
13: 4,626,305 (GRCm39) |
Y110H |
probably damaging |
Het |
Ankar |
T |
A |
1: 72,705,689 (GRCm39) |
K556* |
probably null |
Het |
Anks1b |
T |
C |
10: 90,805,715 (GRCm39) |
V431A |
probably damaging |
Het |
Ap5b1 |
T |
C |
19: 5,618,897 (GRCm39) |
S106P |
possibly damaging |
Het |
Arhgap17 |
T |
C |
7: 122,917,717 (GRCm39) |
N156D |
possibly damaging |
Het |
Arhgap35 |
T |
C |
7: 16,297,058 (GRCm39) |
E669G |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,932,318 (GRCm39) |
M201V |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atg4c |
C |
T |
4: 99,106,376 (GRCm39) |
T112M |
possibly damaging |
Het |
Bcl11a |
A |
T |
11: 24,114,087 (GRCm39) |
N477Y |
possibly damaging |
Het |
Brinp3 |
A |
T |
1: 146,577,579 (GRCm39) |
I205F |
possibly damaging |
Het |
Capza2 |
T |
C |
6: 17,660,777 (GRCm39) |
F159S |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,904,221 (GRCm39) |
C61R |
probably benign |
Het |
Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,301,822 (GRCm39) |
I415T |
possibly damaging |
Het |
Clnk |
A |
T |
5: 38,910,143 (GRCm39) |
|
probably null |
Het |
Ctcfl |
C |
T |
2: 172,943,778 (GRCm39) |
R524Q |
possibly damaging |
Het |
Cyb5r4 |
T |
G |
9: 86,924,932 (GRCm39) |
|
probably benign |
Het |
Ddb1 |
T |
A |
19: 10,588,186 (GRCm39) |
|
probably benign |
Het |
Ddx51 |
C |
A |
5: 110,804,491 (GRCm39) |
Q526K |
probably benign |
Het |
Dennd6a |
A |
T |
14: 26,329,274 (GRCm39) |
Q56L |
probably damaging |
Het |
Dhdds |
T |
C |
4: 133,698,410 (GRCm39) |
E142G |
probably damaging |
Het |
Dnai1 |
A |
G |
4: 41,632,225 (GRCm39) |
H553R |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,179,887 (GRCm39) |
N2908S |
probably benign |
Het |
Fryl |
C |
A |
5: 73,265,305 (GRCm39) |
|
probably null |
Het |
Fut9 |
A |
G |
4: 25,620,322 (GRCm39) |
I164T |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,568,118 (GRCm39) |
|
probably benign |
Het |
Gm11627 |
C |
T |
11: 102,467,580 (GRCm39) |
V33I |
unknown |
Het |
Helz2 |
T |
A |
2: 180,879,272 (GRCm39) |
H782L |
probably benign |
Het |
Kcnmb3 |
A |
G |
3: 32,526,531 (GRCm39) |
V220A |
probably damaging |
Het |
Kif20a |
T |
C |
18: 34,761,515 (GRCm39) |
S303P |
possibly damaging |
Het |
Kif22 |
A |
T |
7: 126,630,126 (GRCm39) |
V470E |
possibly damaging |
Het |
Majin |
C |
T |
19: 6,263,342 (GRCm39) |
T132M |
probably benign |
Het |
Mboat7 |
A |
G |
7: 3,688,671 (GRCm39) |
|
probably null |
Het |
Mkrn2 |
C |
A |
6: 115,588,875 (GRCm39) |
P206Q |
probably benign |
Het |
Mphosph9 |
G |
A |
5: 124,442,274 (GRCm39) |
T358M |
probably damaging |
Het |
Nkd1 |
A |
G |
8: 89,318,305 (GRCm39) |
D210G |
probably damaging |
Het |
Or4c110 |
C |
T |
2: 88,831,976 (GRCm39) |
V219I |
probably damaging |
Het |
Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
Or5ae2 |
G |
T |
7: 84,505,566 (GRCm39) |
|
probably benign |
Het |
Or5b95 |
G |
C |
19: 12,658,165 (GRCm39) |
G231A |
probably damaging |
Het |
Or5p69 |
T |
A |
7: 107,966,947 (GRCm39) |
N83K |
probably benign |
Het |
Or6c35 |
G |
A |
10: 129,169,541 (GRCm39) |
D264N |
probably benign |
Het |
Or9s15 |
A |
T |
1: 92,524,328 (GRCm39) |
E29V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,120,976 (GRCm39) |
Y63H |
probably damaging |
Het |
Plekha1 |
A |
G |
7: 130,503,922 (GRCm39) |
R210G |
probably damaging |
Het |
Ppp2r2c |
C |
T |
5: 37,109,748 (GRCm39) |
T369I |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,670,979 (GRCm39) |
D1029G |
probably damaging |
Het |
Rmnd1 |
T |
C |
10: 4,357,884 (GRCm39) |
D12G |
probably damaging |
Het |
Rtn2 |
A |
G |
7: 19,027,664 (GRCm39) |
K120E |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,179,986 (GRCm39) |
E795G |
possibly damaging |
Het |
Tmprss11d |
T |
A |
5: 86,457,128 (GRCm39) |
Y177F |
probably damaging |
Het |
Trrap |
C |
A |
5: 144,765,372 (GRCm39) |
D2529E |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,513,417 (GRCm39) |
Y409H |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,058,876 (GRCm39) |
V323D |
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 |
|
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'- CTGATTGAACTTCCAGCCACAC -3'
(R):5'- CGGGTCACTCTGATGACCATATC -3'
Sequencing Primer
(F):5'- GATTGAACTTCCAGCCACACTACATG -3'
(R):5'- GATGACCATATCTGTCCTTTCAAAG -3'
|
Posted On |
2014-08-25 |