Incidental Mutation 'R6433:Sh3tc1'
| ID |
518634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3tc1
|
| Ensembl Gene |
ENSMUSG00000036553 |
| Gene Name |
SH3 domain and tetratricopeptide repeats 1 |
| Synonyms |
|
| MMRRC Submission |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6433 (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 C
at 35863941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 749
(R749G)
|
| 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: R749G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: R749G
| 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: R687G
|
| SMART Domains |
Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: R687G
| 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: R749G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: R749G
| 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: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
| Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
| Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
| Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
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 |
|
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 |
|
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'- TGCAGCCTGAGACATGAAGG -3'
(R):5'- TACCTGGAGAGACTGCTTCG -3'
Sequencing Primer
(F):5'- AATGGCCTGGCTGTACTGC -3'
(R):5'- GAGAGACTGCTTCGCCTCAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation