Incidental Mutation 'R1559:Sh3tc1'
ID |
170486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc1
|
Ensembl Gene |
ENSMUSG00000036553 |
Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
Synonyms |
|
MMRRC Submission |
039598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R1559 (G1)
|
Quality Score |
123 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35860693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000129664]
[ENSMUST00000201511]
[ENSMUST00000201511]
|
AlphaFold |
G3X9F6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070203
|
SMART Domains |
Protein: ENSMUSP00000070610 Gene: ENSMUSG00000036553
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 null
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: 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 null
Transcript: ENSMUST00000201511
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553
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 null
Transcript: ENSMUST00000201511
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553
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 |
0.9369 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
Validation Efficiency |
95% (73/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,180 (GRCm39) |
W3585R |
probably null |
Het |
Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
Babam1 |
G |
C |
8: 71,850,424 (GRCm39) |
E18Q |
probably damaging |
Het |
Bcan |
G |
T |
3: 87,901,519 (GRCm39) |
S394R |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,999,232 (GRCm39) |
F4653L |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,209,832 (GRCm39) |
H559Q |
probably benign |
Het |
Cars2 |
G |
T |
8: 11,580,430 (GRCm39) |
|
probably null |
Het |
Ccdc93 |
T |
A |
1: 121,389,712 (GRCm39) |
|
probably benign |
Het |
Ccna2 |
C |
A |
3: 36,624,879 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,803,037 (GRCm39) |
L326I |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,255,478 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
A |
3: 134,976,661 (GRCm39) |
S2423T |
probably benign |
Het |
Cftr |
A |
G |
6: 18,225,936 (GRCm39) |
M295V |
probably benign |
Het |
Cxcl2 |
A |
G |
5: 91,051,871 (GRCm39) |
H23R |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,291,181 (GRCm39) |
T370A |
probably damaging |
Het |
Daam2 |
A |
G |
17: 49,803,148 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,276 (GRCm39) |
F607L |
probably damaging |
Het |
Des |
T |
G |
1: 75,337,230 (GRCm39) |
S57A |
probably benign |
Het |
Drd1 |
A |
T |
13: 54,206,964 (GRCm39) |
S410T |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,082,941 (GRCm39) |
L639P |
probably damaging |
Het |
Fancm |
A |
G |
12: 65,140,463 (GRCm39) |
E395G |
probably benign |
Het |
Grik3 |
A |
G |
4: 125,601,790 (GRCm39) |
D889G |
probably benign |
Het |
Heyl |
A |
G |
4: 123,135,192 (GRCm39) |
S62G |
probably damaging |
Het |
Hmox1 |
C |
T |
8: 75,826,577 (GRCm39) |
P267L |
probably damaging |
Het |
Ifi213 |
A |
C |
1: 173,394,784 (GRCm39) |
S584A |
probably benign |
Het |
Il12rb2 |
G |
T |
6: 67,333,576 (GRCm39) |
F234L |
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,488,811 (GRCm39) |
S233T |
probably damaging |
Het |
Itga4 |
A |
G |
2: 79,146,032 (GRCm39) |
S745G |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,830,918 (GRCm39) |
I734F |
possibly damaging |
Het |
Klk1b16 |
T |
C |
7: 43,790,425 (GRCm39) |
I200T |
probably benign |
Het |
Lrrc4c |
T |
A |
2: 97,461,117 (GRCm39) |
M581K |
probably benign |
Het |
M6pr |
A |
T |
6: 122,292,033 (GRCm39) |
I122L |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,954,169 (GRCm39) |
|
probably benign |
Het |
Mybpc2 |
T |
G |
7: 44,163,111 (GRCm39) |
T480P |
probably benign |
Het |
Or14c44 |
T |
C |
7: 86,061,575 (GRCm39) |
S43P |
probably benign |
Het |
Or1j17 |
A |
G |
2: 36,578,770 (GRCm39) |
Y252C |
probably damaging |
Het |
Or51ab3 |
A |
T |
7: 103,201,372 (GRCm39) |
I127F |
possibly damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,437 (GRCm39) |
N175S |
probably benign |
Het |
Pcx |
T |
A |
19: 4,669,114 (GRCm39) |
I704N |
probably damaging |
Het |
Pde3a |
G |
T |
6: 141,404,824 (GRCm39) |
A350S |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,107,580 (GRCm39) |
|
probably benign |
Het |
Prb1a |
T |
A |
6: 132,185,507 (GRCm39) |
Y42F |
unknown |
Het |
Rsph4a |
T |
A |
10: 33,785,727 (GRCm39) |
V546E |
probably damaging |
Het |
Saxo4 |
T |
C |
19: 10,458,770 (GRCm39) |
T87A |
probably benign |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc22a2 |
T |
C |
17: 12,803,298 (GRCm39) |
F44S |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,026,223 (GRCm39) |
D334V |
probably damaging |
Het |
Smim19 |
T |
C |
8: 22,953,352 (GRCm39) |
D105G |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,683,588 (GRCm39) |
T233A |
probably damaging |
Het |
St8sia5 |
G |
A |
18: 77,299,460 (GRCm39) |
|
probably null |
Het |
Stk32a |
C |
A |
18: 43,376,149 (GRCm39) |
Q73K |
probably benign |
Het |
Tmem129 |
G |
T |
5: 33,815,100 (GRCm39) |
|
probably null |
Het |
Traf3ip3 |
A |
T |
1: 192,860,599 (GRCm39) |
L441Q |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,731,305 (GRCm39) |
|
probably benign |
Het |
Unc45b |
T |
C |
11: 82,808,672 (GRCm39) |
S253P |
possibly damaging |
Het |
Vars2 |
A |
G |
17: 35,977,150 (GRCm39) |
|
probably benign |
Het |
Vmn2r51 |
C |
T |
7: 9,836,372 (GRCm39) |
M136I |
possibly damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,836,373 (GRCm39) |
M136T |
possibly damaging |
Het |
Zfp595 |
T |
C |
13: 67,465,127 (GRCm39) |
I379V |
possibly 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 |
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 |
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'- TCTGTGGTGAGAAGCCTGGAGAAC -3'
(R):5'- TCTACAGCAAGGTGATGCCCAATG -3'
Sequencing Primer
(F):5'- GGTGACCCTTGTTTAACCAAGAG -3'
(R):5'- TGATGCCCAATGAGGTGC -3'
|
Posted On |
2014-04-13 |