Incidental Mutation 'R8154:Sh3tc1'
| ID |
633191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
067580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8154 (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 A
at 35875696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 138
(I138F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
|
| AlphaFold |
G3X9F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070203
AA Change: I138F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: I138F
| 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 |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: I76F
| 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 |
probably damaging
Transcript: ENSMUST00000201511
AA Change: I138F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: I138F
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
T |
3: 122,718,142 (GRCm39) |
G12C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,424 (GRCm39) |
I600N |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,756,902 (GRCm39) |
P357T |
probably damaging |
Het |
| Bmyc |
T |
A |
2: 25,597,346 (GRCm39) |
S137T |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,987,654 (GRCm39) |
M168K |
possibly damaging |
Het |
| Card11 |
T |
G |
5: 140,886,732 (GRCm39) |
K339T |
probably damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,542,446 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,896 (GRCm39) |
S193P |
probably benign |
Het |
| Cracd |
A |
T |
5: 76,989,644 (GRCm39) |
E62D |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,224,642 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,434 (GRCm39) |
E576G |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,493 (GRCm39) |
N238S |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,517,740 (GRCm39) |
T375K |
possibly damaging |
Het |
| Espnl |
C |
T |
1: 91,252,921 (GRCm39) |
H217Y |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,507 (GRCm39) |
D189G |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,619 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gtf2i |
A |
T |
5: 134,280,721 (GRCm39) |
F583L |
probably benign |
Het |
| Heatr9 |
T |
A |
11: 83,402,703 (GRCm39) |
Y532F |
possibly damaging |
Het |
| Hic2 |
C |
T |
16: 17,076,344 (GRCm39) |
S391L |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,656,652 (GRCm39) |
V905A |
probably damaging |
Het |
| Inpp5f |
T |
G |
7: 128,265,991 (GRCm39) |
W211G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,412,802 (GRCm39) |
L382P |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,822 (GRCm39) |
Y1123F |
possibly damaging |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lmod3 |
T |
A |
6: 97,224,941 (GRCm39) |
K293N |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,269,195 (GRCm39) |
S473P |
possibly damaging |
Het |
| Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
| Map4k4 |
T |
G |
1: 40,060,302 (GRCm39) |
Y1030* |
probably null |
Het |
| Miga1 |
A |
G |
3: 152,026,337 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
T |
C |
17: 13,130,608 (GRCm39) |
E167G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,144,200 (GRCm39) |
E1190G |
probably damaging |
Het |
| Ngef |
C |
T |
1: 87,468,482 (GRCm39) |
M92I |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,752,904 (GRCm39) |
Y493F |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,763 (GRCm39) |
C213G |
probably benign |
Het |
| Otud7a |
C |
A |
7: 63,407,612 (GRCm39) |
F638L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,651,620 (GRCm39) |
|
probably null |
Het |
| Pcdhgb1 |
A |
G |
18: 37,815,596 (GRCm39) |
I696V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,304,948 (GRCm39) |
F1745S |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,108,689 (GRCm39) |
A1637V |
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,004,936 (GRCm39) |
M57L |
possibly damaging |
Het |
| Rbl2 |
A |
G |
8: 91,833,825 (GRCm39) |
D885G |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,691,205 (GRCm39) |
M47V |
unknown |
Het |
| Rd3l |
T |
A |
12: 111,946,638 (GRCm39) |
H46L |
probably benign |
Het |
| Scn5a |
C |
G |
9: 119,391,611 (GRCm39) |
R27P |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,959,100 (GRCm39) |
V99D |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,923,596 (GRCm39) |
S137T |
possibly damaging |
Het |
| Smg8 |
A |
T |
11: 86,976,063 (GRCm39) |
M506K |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 139,014,938 (GRCm39) |
V368M |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,284,999 (GRCm39) |
V25A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,036,793 (GRCm39) |
K360E |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,017 (GRCm39) |
H1419Q |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,802,366 (GRCm39) |
F94L |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,946 (GRCm39) |
L201P |
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,391 (GRCm39) |
R1499W |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,157 (GRCm39) |
L589Q |
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 |
|
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 |
|
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'- GATCTCCCACAGTCTGGTTC -3'
(R):5'- TTTGGATCCCACCTGACCAC -3'
Sequencing Primer
(F):5'- ACAGTCTGGTTCACGGGAG -3'
(R):5'- CCACTTACAAGTATACAGGCAGTGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation