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: 0.086)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35697180-35739987 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35723953 bp (GRCm38)
|
| 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 |
|---|
| 2410141K09Rik |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| 9530053A07Rik |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
| Armc4 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm21671 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Olfr345 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramef17 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
probably damaging |
Het |
|
| Other mutations in Sh3tc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Sh3tc1
|
APN |
5 |
35,710,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01019:Sh3tc1
|
APN |
5 |
35,703,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Sh3tc1
|
APN |
5 |
35,700,316 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02069:Sh3tc1
|
APN |
5 |
35,718,995 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL02153:Sh3tc1
|
APN |
5 |
35,703,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02269:Sh3tc1
|
APN |
5 |
35,706,284 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL02609:Sh3tc1
|
APN |
5 |
35,707,172 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02984:Sh3tc1
|
UTSW |
5 |
35,714,059 (GRCm38) |
splice site |
probably null |
|
|
R0280:Sh3tc1
|
UTSW |
5 |
35,706,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0305:Sh3tc1
|
UTSW |
5 |
35,723,999 (GRCm38) |
missense |
probably benign |
|
|
R0322:Sh3tc1
|
UTSW |
5 |
35,706,561 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0485:Sh3tc1
|
UTSW |
5 |
35,702,012 (GRCm38) |
splice site |
probably benign |
|
|
R0511:Sh3tc1
|
UTSW |
5 |
35,703,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Sh3tc1
|
UTSW |
5 |
35,700,307 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0523:Sh3tc1
|
UTSW |
5 |
35,724,066 (GRCm38) |
small deletion |
probably benign |
|
|
R0550:Sh3tc1
|
UTSW |
5 |
35,699,784 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0676:Sh3tc1
|
UTSW |
5 |
35,719,114 (GRCm38) |
splice site |
probably benign |
|
|
R1485:Sh3tc1
|
UTSW |
5 |
35,719,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1559:Sh3tc1
|
UTSW |
5 |
35,703,349 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1599:Sh3tc1
|
UTSW |
5 |
35,707,512 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1759:Sh3tc1
|
UTSW |
5 |
35,705,904 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1808:Sh3tc1
|
UTSW |
5 |
35,705,924 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1816:Sh3tc1
|
UTSW |
5 |
35,700,584 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2036:Sh3tc1
|
UTSW |
5 |
35,716,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2092:Sh3tc1
|
UTSW |
5 |
35,700,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2944:Sh3tc1
|
UTSW |
5 |
35,714,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4258:Sh3tc1
|
UTSW |
5 |
35,706,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4556:Sh3tc1
|
UTSW |
5 |
35,707,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4647:Sh3tc1
|
UTSW |
5 |
35,706,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5011:Sh3tc1
|
UTSW |
5 |
35,700,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5740:Sh3tc1
|
UTSW |
5 |
35,707,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6023:Sh3tc1
|
UTSW |
5 |
35,706,951 (GRCm38) |
nonsense |
probably null |
|
|
R6164:Sh3tc1
|
UTSW |
5 |
35,706,246 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6262:Sh3tc1
|
UTSW |
5 |
35,699,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6433:Sh3tc1
|
UTSW |
5 |
35,706,597 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6932:Sh3tc1
|
UTSW |
5 |
35,707,434 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6986:Sh3tc1
|
UTSW |
5 |
35,723,944 (GRCm38) |
missense |
probably benign |
|
|
R7098:Sh3tc1
|
UTSW |
5 |
35,702,014 (GRCm38) |
splice site |
probably null |
|
|
R7502:Sh3tc1
|
UTSW |
5 |
35,706,062 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7792:Sh3tc1
|
UTSW |
5 |
35,710,951 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8079:Sh3tc1
|
UTSW |
5 |
35,706,857 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8154:Sh3tc1
|
UTSW |
5 |
35,718,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8267:Sh3tc1
|
UTSW |
5 |
35,706,407 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8300:Sh3tc1
|
UTSW |
5 |
35,697,448 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8416:Sh3tc1
|
UTSW |
5 |
35,710,912 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8459:Sh3tc1
|
UTSW |
5 |
35,721,589 (GRCm38) |
missense |
probably benign |
|
|
R8699:Sh3tc1
|
UTSW |
5 |
35,701,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8754:Sh3tc1
|
UTSW |
5 |
35,706,458 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8782:Sh3tc1
|
UTSW |
5 |
35,714,204 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9044:Sh3tc1
|
UTSW |
5 |
35,697,490 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9047:Sh3tc1
|
UTSW |
5 |
35,706,483 (GRCm38) |
missense |
probably benign |
|
|
R9092:Sh3tc1
|
UTSW |
5 |
35,716,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9771:Sh3tc1
|
UTSW |
5 |
35,716,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0061:Sh3tc1
|
UTSW |
5 |
35,706,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Sh3tc1
|
UTSW |
5 |
35,714,229 (GRCm38) |
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