Incidental Mutation 'R6986:Sh3tc1'
ID |
542964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3tc1
|
Ensembl Gene |
ENSMUSG00000036553 |
Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
Synonyms |
|
MMRRC Submission |
045093-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6986 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35854524-35897331 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35881288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070203]
[ENSMUST00000201511]
|
AlphaFold |
G3X9F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070203
AA Change: S52P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070610 Gene: ENSMUSG00000036553 AA Change: S52P
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 |
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: S52P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144175 Gene: ENSMUSG00000036553 AA Change: S52P
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: 99.3%
- 20x: 98.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
T |
C |
16: 4,129,441 (GRCm39) |
N482D |
probably damaging |
Het |
Agbl3 |
A |
G |
6: 34,816,387 (GRCm39) |
K766E |
probably benign |
Het |
Aldh3a1 |
T |
A |
11: 61,105,077 (GRCm39) |
I154N |
probably damaging |
Het |
Cdca2 |
C |
T |
14: 67,932,446 (GRCm39) |
V486I |
probably benign |
Het |
Celf3 |
G |
C |
3: 94,395,024 (GRCm39) |
A313P |
possibly damaging |
Het |
Cgrrf1 |
T |
C |
14: 47,069,586 (GRCm39) |
|
probably benign |
Het |
Chd7 |
T |
A |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
Chrna5 |
T |
A |
9: 54,913,741 (GRCm39) |
M429K |
possibly damaging |
Het |
Cux2 |
A |
T |
5: 122,006,642 (GRCm39) |
L876Q |
possibly damaging |
Het |
Cyb5rl |
T |
A |
4: 106,928,073 (GRCm39) |
S3T |
probably benign |
Het |
Ehd4 |
A |
T |
2: 119,927,571 (GRCm39) |
M321K |
probably damaging |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,606 (GRCm39) |
E293G |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,932,631 (GRCm39) |
T1434I |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,747,459 (GRCm39) |
I599N |
probably damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,398 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
C |
14: 51,602,832 (GRCm39) |
M56T |
possibly damaging |
Het |
H3c8 |
A |
G |
13: 23,719,603 (GRCm39) |
|
probably benign |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,204,474 (GRCm39) |
Y994C |
probably damaging |
Het |
Irf1 |
A |
G |
11: 53,664,966 (GRCm39) |
T165A |
probably damaging |
Het |
Lgr6 |
G |
T |
1: 134,921,694 (GRCm39) |
Q217K |
possibly damaging |
Het |
Lrrc36 |
T |
C |
8: 106,185,079 (GRCm39) |
S619P |
probably damaging |
Het |
Morn4 |
T |
C |
19: 42,066,453 (GRCm39) |
N45D |
possibly damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,460 (GRCm39) |
H53R |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,439,692 (GRCm39) |
T583A |
probably damaging |
Het |
Ncdn |
A |
G |
4: 126,641,022 (GRCm39) |
Y493H |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,350,911 (GRCm39) |
Y726F |
probably benign |
Het |
Optc |
T |
A |
1: 133,825,702 (GRCm39) |
M275L |
probably benign |
Het |
Or2w25 |
A |
G |
11: 59,504,924 (GRCm39) |
K378R |
possibly damaging |
Het |
Or6c69c |
G |
A |
10: 129,911,199 (GRCm39) |
V307M |
possibly damaging |
Het |
Perm1 |
A |
T |
4: 156,302,976 (GRCm39) |
K507* |
probably null |
Het |
Pgbd5 |
C |
T |
8: 125,111,212 (GRCm39) |
E160K |
possibly damaging |
Het |
Polr2k |
C |
A |
15: 36,175,181 (GRCm39) |
P14T |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 124,439,080 (GRCm38) |
Y112* |
probably null |
Het |
Pramel14 |
T |
A |
4: 143,719,888 (GRCm39) |
D159V |
probably damaging |
Het |
Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
Rnls |
C |
T |
19: 33,359,781 (GRCm39) |
G11D |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,929,822 (GRCm39) |
T333A |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,338,962 (GRCm39) |
N572K |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,469,891 (GRCm39) |
L319P |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,901,054 (GRCm39) |
D871G |
probably damaging |
Het |
Sf3b2 |
T |
C |
19: 5,329,923 (GRCm39) |
T661A |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,867 (GRCm39) |
R30W |
probably damaging |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
Snrpa |
A |
T |
7: 26,892,389 (GRCm39) |
M57K |
probably damaging |
Het |
Spata31f3 |
A |
G |
4: 42,868,696 (GRCm39) |
V309A |
possibly damaging |
Het |
Srbd1 |
A |
T |
17: 86,292,650 (GRCm39) |
I973N |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,142,723 (GRCm39) |
S428T |
probably benign |
Het |
Ss18l2 |
A |
G |
9: 121,541,671 (GRCm39) |
Y50C |
probably damaging |
Het |
St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Tmc1 |
T |
C |
19: 20,801,647 (GRCm39) |
N460D |
probably benign |
Het |
Tnni3k |
C |
T |
3: 154,667,501 (GRCm39) |
G280R |
probably damaging |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Trpc3 |
A |
G |
3: 36,709,165 (GRCm39) |
|
probably null |
Het |
Tshr |
C |
T |
12: 91,500,731 (GRCm39) |
A152V |
probably damaging |
Het |
Tuft1 |
G |
A |
3: 94,521,461 (GRCm39) |
P358S |
probably damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,816,340 (GRCm39) |
S672T |
probably damaging |
Het |
Vmn2r83 |
G |
T |
10: 79,316,093 (GRCm39) |
E496D |
probably benign |
Het |
Vmn2r91 |
A |
G |
17: 18,356,271 (GRCm39) |
N646S |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,441,426 (GRCm39) |
V412A |
possibly damaging |
Het |
Zmynd8 |
G |
T |
2: 165,675,335 (GRCm39) |
H273N |
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 |
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'- TGTGCTTAGCCCACAGTGTG -3'
(R):5'- ACCACTGTCCTCTCTTCACAGAAG -3'
Sequencing Primer
(F):5'- ACAGTGTGGCTAACCCAGTG -3'
(R):5'- GTCCTCTCTTCACAGAAGGCCAG -3'
|
Posted On |
2018-11-28 |