Incidental Mutation 'R2092:Sh3tc1'
| ID |
231823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
040097-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2092 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35858002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1121
(E1121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070203
AA Change: E1121G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: E1121G
| 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: E1059G
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: E1059G
| 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 damaging
Transcript: ENSMUST00000201511
AA Change: E1121G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: E1121G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,651,896 (GRCm39) |
C1321* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,857,534 (GRCm39) |
F673L |
possibly damaging |
Het |
| Adam19 |
T |
G |
11: 45,951,731 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,024,041 (GRCm39) |
T313A |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,260,318 (GRCm39) |
I178F |
probably benign |
Het |
| Alb |
G |
GA |
5: 90,611,842 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,988,860 (GRCm39) |
S416P |
probably damaging |
Het |
| Casr |
A |
T |
16: 36,330,405 (GRCm39) |
Y310N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,131,737 (GRCm39) |
N152S |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,184 (GRCm39) |
C102* |
probably null |
Het |
| Col4a4 |
G |
A |
1: 82,476,667 (GRCm39) |
S554L |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,937,530 (GRCm39) |
K1392R |
probably damaging |
Het |
| Dab1 |
T |
G |
4: 104,535,974 (GRCm39) |
Y128D |
probably damaging |
Het |
| Dars1 |
A |
T |
1: 128,301,755 (GRCm39) |
M293K |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,950,912 (GRCm39) |
F493L |
possibly damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,651,748 (GRCm39) |
W330L |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,976,451 (GRCm39) |
M831K |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,897,545 (GRCm39) |
N715S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,160 (GRCm39) |
L12Q |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,969 (GRCm39) |
M333V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fto |
C |
A |
8: 92,136,315 (GRCm39) |
Y194* |
probably null |
Het |
| Gnptab |
T |
G |
10: 88,276,167 (GRCm39) |
Y1151* |
probably null |
Het |
| Grm1 |
A |
G |
10: 10,564,969 (GRCm39) |
L1113P |
probably benign |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,614 (GRCm39) |
K172E |
probably damaging |
Het |
| Ifitm1 |
A |
G |
7: 140,549,427 (GRCm39) |
D70G |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,413,605 (GRCm39) |
T25K |
probably damaging |
Het |
| Kif22 |
C |
T |
7: 126,632,802 (GRCm39) |
D195N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Lyz1 |
C |
T |
10: 117,124,504 (GRCm39) |
R144Q |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,276,971 (GRCm39) |
T6055S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myh9 |
G |
A |
15: 77,648,550 (GRCm39) |
Q80* |
probably null |
Het |
| Myo6 |
G |
T |
9: 80,152,964 (GRCm39) |
R199L |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,546 (GRCm39) |
V499I |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,465 (GRCm39) |
F140S |
probably benign |
Het |
| Or4p8 |
A |
G |
2: 88,727,611 (GRCm39) |
F110S |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,316 (GRCm39) |
V208M |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,279 (GRCm39) |
F68L |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,166 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,485 (GRCm39) |
L82Q |
probably damaging |
Het |
| Otop1 |
A |
T |
5: 38,457,110 (GRCm39) |
I290F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,240 (GRCm39) |
I772N |
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,616 (GRCm39) |
H423R |
probably benign |
Het |
| Ptk2 |
A |
T |
15: 73,108,040 (GRCm39) |
Y56* |
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,658,604 (GRCm39) |
D134G |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,313,708 (GRCm39) |
S1358A |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,363,720 (GRCm39) |
M844V |
probably damaging |
Het |
| Slc25a15 |
T |
C |
8: 22,870,950 (GRCm39) |
T176A |
probably damaging |
Het |
| Slc29a4 |
T |
A |
5: 142,704,610 (GRCm39) |
I384N |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,614 (GRCm39) |
D555E |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,216,263 (GRCm39) |
I446V |
probably benign |
Het |
| St6gal2 |
T |
C |
17: 55,817,267 (GRCm39) |
Y477H |
probably damaging |
Het |
| Syngr1 |
A |
T |
15: 80,000,141 (GRCm39) |
Q84L |
possibly damaging |
Het |
| Tedc1 |
T |
C |
12: 113,121,340 (GRCm39) |
L187P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,721,456 (GRCm39) |
I322V |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,365,656 (GRCm39) |
V608A |
possibly damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,299,949 (GRCm39) |
S22P |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,243,691 (GRCm39) |
P1232S |
probably benign |
Het |
| Upk3a |
A |
G |
15: 84,902,286 (GRCm39) |
T38A |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,554,442 (GRCm39) |
M1549K |
probably benign |
Het |
| Vmn1r176 |
C |
T |
7: 23,534,578 (GRCm39) |
D192N |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,885 (GRCm39) |
T35A |
possibly damaging |
Het |
| Xkr7 |
C |
T |
2: 152,895,983 (GRCm39) |
S279L |
probably damaging |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp641 |
G |
T |
15: 98,191,593 (GRCm39) |
T31N |
probably benign |
Het |
| Zfp74 |
G |
A |
7: 29,653,349 (GRCm39) |
|
probably benign |
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 |
|
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'- CTCCTAAGCCCACATGTGTG -3'
(R):5'- CTAGCTCTCTGGTCCTGAAAGC -3'
Sequencing Primer
(F):5'- ACATGTGTGTGAGGAACTGTCAC -3'
(R):5'- TGAAAGCTCCTCTCCTCAGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation