Incidental Mutation 'R7737:Sh3tc1'
| ID |
596312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7737 (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 35881297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 49
(R49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: R49G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: R49G
| 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 benign
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: ENSMUST00000201511
AA Change: R49G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: R49G
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,463,566 (GRCm39) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,851,065 (GRCm39) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,254,470 (GRCm39) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,728 (GRCm39) |
E493G |
possibly damaging |
Het |
| Arvcf |
G |
A |
16: 18,214,966 (GRCm39) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 169,110,175 (GRCm39) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,134 (GRCm39) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,558,332 (GRCm39) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,463,926 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,338 (GRCm39) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,357,649 (GRCm39) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,861,302 (GRCm39) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,530,331 (GRCm39) |
Y93* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,498 (GRCm39) |
V2095E |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,764,874 (GRCm39) |
L84R |
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,649,805 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,302,407 (GRCm39) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 25,159,709 (GRCm39) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,324,467 (GRCm39) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,652,787 (GRCm39) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,121,338 (GRCm39) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,691,191 (GRCm39) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,226,430 (GRCm39) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,326,782 (GRCm39) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,699,649 (GRCm39) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,003 (GRCm39) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 108,967,723 (GRCm39) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,274 (GRCm39) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,164,235 (GRCm39) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,280,150 (GRCm39) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,623,195 (GRCm39) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,778,749 (GRCm39) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,147,257 (GRCm39) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,436,314 (GRCm39) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,268,136 (GRCm39) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,749,461 (GRCm39) |
Y202N |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,217,890 (GRCm39) |
L608P |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,632 (GRCm39) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,955,488 (GRCm39) |
S1176T |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,718,526 (GRCm39) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,252 (GRCm39) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,145,416 (GRCm39) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,013,034 (GRCm39) |
Q132L |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,936,796 (GRCm39) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,874,127 (GRCm39) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,856 (GRCm39) |
A427S |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,187,995 (GRCm39) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,989,622 (GRCm39) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,336,054 (GRCm39) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,194,721 (GRCm39) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,481,588 (GRCm39) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,195,080 (GRCm39) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 103,928,771 (GRCm39) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,821,910 (GRCm39) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,634 (GRCm39) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,547,016 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 80,674,941 (GRCm39) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,838,844 (GRCm39) |
N62K |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,581,738 (GRCm39) |
|
probably null |
Het |
| Zmynd11 |
G |
A |
13: 9,745,175 (GRCm39) |
T248M |
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 |
|
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'- TGTGCTTAGCCCACAGTGTG -3'
(R):5'- CTGTCCTCTCTTCACAGAAGGC -3'
Sequencing Primer
(F):5'- ACAGTGTGGCTAACCCAGTG -3'
(R):5'- GCAACATGCCCAGCTCTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation