Incidental Mutation 'R1569:Sh3rf1'
ID |
177119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf1
|
Ensembl Gene |
ENSMUSG00000031642 |
Gene Name |
SH3 domain containing ring finger 1 |
Synonyms |
Posh, Sh3md2, 2200003J05Rik |
MMRRC Submission |
039608-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R1569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61837896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 814
(P814S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034060
AA Change: P814S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034060 Gene: ENSMUSG00000031642 AA Change: P814S
Domain | Start | End | E-Value | Type |
RING
|
12 |
52 |
5.3e-9 |
SMART |
low complexity region
|
83 |
90 |
N/A |
INTRINSIC |
SH3
|
137 |
192 |
1.67e-18 |
SMART |
SH3
|
199 |
258 |
4.84e-15 |
SMART |
low complexity region
|
366 |
376 |
N/A |
INTRINSIC |
low complexity region
|
397 |
405 |
N/A |
INTRINSIC |
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
SH3
|
454 |
511 |
7.92e-20 |
SMART |
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
low complexity region
|
700 |
734 |
N/A |
INTRINSIC |
SH3
|
835 |
891 |
1.47e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209611
AA Change: P814S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210343
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
Validation Efficiency |
96% (72/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,427 (GRCm39) |
K166* |
probably null |
Het |
Abca2 |
T |
A |
2: 25,329,197 (GRCm39) |
N1012K |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,458 (GRCm39) |
V914A |
possibly damaging |
Het |
Akap1 |
T |
A |
11: 88,724,006 (GRCm39) |
M833L |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,823,188 (GRCm39) |
H249Q |
probably benign |
Het |
Atp6v0a4 |
A |
G |
6: 38,027,560 (GRCm39) |
V750A |
probably damaging |
Het |
Car6 |
T |
C |
4: 150,285,499 (GRCm39) |
Y23C |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,267 (GRCm39) |
T917A |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,747,340 (GRCm39) |
D736Y |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dennd4c |
G |
A |
4: 86,704,331 (GRCm39) |
R282H |
possibly damaging |
Het |
Dsg1b |
T |
A |
18: 20,529,537 (GRCm39) |
N327K |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,745,597 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
G |
T |
10: 128,354,863 (GRCm39) |
S512R |
possibly damaging |
Het |
Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
Fbxl5 |
A |
T |
5: 43,922,803 (GRCm39) |
I205K |
probably damaging |
Het |
Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
Gabpb1 |
A |
T |
2: 126,494,171 (GRCm39) |
D151E |
probably benign |
Het |
Gcc2 |
C |
T |
10: 58,105,993 (GRCm39) |
L310F |
probably benign |
Het |
Hsd11b1 |
C |
G |
1: 192,922,635 (GRCm39) |
E141Q |
probably damaging |
Het |
Htr1b |
A |
G |
9: 81,514,340 (GRCm39) |
V89A |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,458,017 (GRCm39) |
T185S |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,771 (GRCm39) |
D1265G |
probably benign |
Het |
Ints9 |
T |
C |
14: 65,217,571 (GRCm39) |
Y33H |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 92,986,532 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
T |
17: 68,087,613 (GRCm39) |
|
probably null |
Het |
Lbp |
A |
T |
2: 158,161,607 (GRCm39) |
D223V |
probably damaging |
Het |
Lck |
C |
A |
4: 129,449,449 (GRCm39) |
D283Y |
probably damaging |
Het |
Lcmt2 |
A |
G |
2: 120,970,309 (GRCm39) |
F258S |
probably damaging |
Het |
Lsg1 |
G |
T |
16: 30,399,823 (GRCm39) |
|
probably null |
Het |
Maip1 |
T |
C |
1: 57,452,554 (GRCm39) |
|
probably benign |
Het |
Mark3 |
T |
G |
12: 111,600,180 (GRCm39) |
I465S |
probably benign |
Het |
Marveld2 |
C |
T |
13: 100,737,506 (GRCm39) |
V128I |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,319,022 (GRCm39) |
H750R |
possibly damaging |
Het |
Mdn1 |
A |
T |
4: 32,723,501 (GRCm39) |
Q2479L |
probably null |
Het |
Met |
A |
T |
6: 17,531,503 (GRCm39) |
K594* |
probably null |
Het |
Pak2 |
G |
T |
16: 31,856,113 (GRCm39) |
S241R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,410 (GRCm39) |
I1368V |
possibly damaging |
Het |
Pparg |
T |
C |
6: 115,416,960 (GRCm39) |
I51T |
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,179,595 (GRCm39) |
E62G |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,152,475 (GRCm39) |
S86G |
possibly damaging |
Het |
Rabgap1l |
A |
T |
1: 160,529,960 (GRCm39) |
I347K |
probably benign |
Het |
Rdh1 |
A |
T |
10: 127,598,941 (GRCm39) |
M141L |
probably benign |
Het |
Rfx2 |
A |
T |
17: 57,111,326 (GRCm39) |
I82N |
possibly damaging |
Het |
Sh2b2 |
G |
A |
5: 136,260,589 (GRCm39) |
A209V |
possibly damaging |
Het |
Sh3d19 |
G |
A |
3: 86,033,951 (GRCm39) |
R768H |
possibly damaging |
Het |
Shbg |
T |
A |
11: 69,508,415 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
T |
C |
16: 36,576,745 (GRCm39) |
T430A |
probably benign |
Het |
Slc17a3 |
A |
T |
13: 24,039,591 (GRCm39) |
I250F |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spg11 |
A |
G |
2: 121,932,187 (GRCm39) |
S552P |
probably damaging |
Het |
Srpk2 |
A |
G |
5: 23,719,024 (GRCm39) |
I597T |
probably damaging |
Het |
St6galnac1 |
T |
G |
11: 116,660,097 (GRCm39) |
N72T |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,321 (GRCm39) |
|
probably null |
Het |
Tmem208 |
T |
A |
8: 106,061,462 (GRCm39) |
C163S |
possibly damaging |
Het |
Tpte |
T |
C |
8: 22,835,047 (GRCm39) |
V401A |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,282,093 (GRCm39) |
W795R |
possibly damaging |
Het |
Trpm3 |
G |
A |
19: 22,866,809 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,626,063 (GRCm39) |
T14999S |
possibly damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,921 (GRCm39) |
N85K |
probably benign |
Het |
Yes1 |
A |
G |
5: 32,810,507 (GRCm39) |
Y192C |
probably damaging |
Het |
Zan |
A |
G |
5: 137,427,392 (GRCm39) |
V2415A |
unknown |
Het |
Zfp410 |
T |
A |
12: 84,379,726 (GRCm39) |
C311S |
probably damaging |
Het |
Zfp51 |
A |
T |
17: 21,676,642 (GRCm39) |
M38L |
probably benign |
Het |
Zfp560 |
A |
T |
9: 20,260,011 (GRCm39) |
C284S |
possibly damaging |
Het |
Zfp808 |
C |
T |
13: 62,320,714 (GRCm39) |
R648* |
probably null |
Het |
Zfp976 |
G |
T |
7: 42,262,806 (GRCm39) |
H344N |
probably damaging |
Het |
|
Other mutations in Sh3rf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01066:Sh3rf1
|
APN |
8 |
61,782,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01071:Sh3rf1
|
APN |
8 |
61,678,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01485:Sh3rf1
|
APN |
8 |
61,782,365 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01587:Sh3rf1
|
APN |
8 |
61,679,092 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02412:Sh3rf1
|
APN |
8 |
61,825,723 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02649:Sh3rf1
|
APN |
8 |
61,816,225 (GRCm39) |
missense |
probably damaging |
1.00 |
limpid
|
UTSW |
8 |
61,782,292 (GRCm39) |
missense |
probably damaging |
1.00 |
Mac
|
UTSW |
8 |
61,814,807 (GRCm39) |
critical splice donor site |
probably null |
|
Moki
|
UTSW |
8 |
61,837,860 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02835:Sh3rf1
|
UTSW |
8 |
61,679,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Sh3rf1
|
UTSW |
8 |
61,679,327 (GRCm39) |
missense |
probably damaging |
0.97 |
R0016:Sh3rf1
|
UTSW |
8 |
61,827,172 (GRCm39) |
missense |
probably benign |
0.18 |
R0040:Sh3rf1
|
UTSW |
8 |
61,782,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0040:Sh3rf1
|
UTSW |
8 |
61,782,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0278:Sh3rf1
|
UTSW |
8 |
61,827,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Sh3rf1
|
UTSW |
8 |
61,846,696 (GRCm39) |
splice site |
probably benign |
|
R0733:Sh3rf1
|
UTSW |
8 |
61,825,594 (GRCm39) |
missense |
probably benign |
0.00 |
R0790:Sh3rf1
|
UTSW |
8 |
61,782,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R1028:Sh3rf1
|
UTSW |
8 |
61,846,821 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1654:Sh3rf1
|
UTSW |
8 |
61,814,779 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1799:Sh3rf1
|
UTSW |
8 |
61,825,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R1960:Sh3rf1
|
UTSW |
8 |
61,837,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R2181:Sh3rf1
|
UTSW |
8 |
61,816,272 (GRCm39) |
missense |
probably damaging |
0.98 |
R2184:Sh3rf1
|
UTSW |
8 |
61,825,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R2330:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2331:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2332:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2967:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R2994:Sh3rf1
|
UTSW |
8 |
61,825,609 (GRCm39) |
missense |
probably benign |
0.10 |
R3159:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R3195:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R3196:Sh3rf1
|
UTSW |
8 |
61,679,321 (GRCm39) |
missense |
probably benign |
0.01 |
R3724:Sh3rf1
|
UTSW |
8 |
61,825,756 (GRCm39) |
missense |
probably benign |
|
R4692:Sh3rf1
|
UTSW |
8 |
61,806,888 (GRCm39) |
splice site |
probably null |
|
R4712:Sh3rf1
|
UTSW |
8 |
61,814,793 (GRCm39) |
missense |
probably benign |
0.00 |
R5214:Sh3rf1
|
UTSW |
8 |
61,825,765 (GRCm39) |
missense |
probably damaging |
0.98 |
R5409:Sh3rf1
|
UTSW |
8 |
61,827,279 (GRCm39) |
missense |
probably benign |
0.01 |
R5590:Sh3rf1
|
UTSW |
8 |
61,814,766 (GRCm39) |
missense |
probably benign |
0.11 |
R5651:Sh3rf1
|
UTSW |
8 |
61,816,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R6976:Sh3rf1
|
UTSW |
8 |
61,814,766 (GRCm39) |
nonsense |
probably null |
|
R7126:Sh3rf1
|
UTSW |
8 |
61,802,458 (GRCm39) |
missense |
probably benign |
0.01 |
R7154:Sh3rf1
|
UTSW |
8 |
61,825,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7625:Sh3rf1
|
UTSW |
8 |
61,825,756 (GRCm39) |
missense |
probably benign |
|
R7747:Sh3rf1
|
UTSW |
8 |
61,806,787 (GRCm39) |
missense |
probably damaging |
0.97 |
R8217:Sh3rf1
|
UTSW |
8 |
61,782,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8705:Sh3rf1
|
UTSW |
8 |
61,802,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R8711:Sh3rf1
|
UTSW |
8 |
61,783,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8735:Sh3rf1
|
UTSW |
8 |
61,825,687 (GRCm39) |
missense |
probably benign |
0.30 |
R8969:Sh3rf1
|
UTSW |
8 |
61,837,860 (GRCm39) |
missense |
probably benign |
0.17 |
R9015:Sh3rf1
|
UTSW |
8 |
61,827,202 (GRCm39) |
missense |
probably benign |
0.00 |
R9085:Sh3rf1
|
UTSW |
8 |
61,802,493 (GRCm39) |
missense |
probably benign |
0.00 |
R9089:Sh3rf1
|
UTSW |
8 |
61,825,613 (GRCm39) |
missense |
probably benign |
0.01 |
R9188:Sh3rf1
|
UTSW |
8 |
61,814,807 (GRCm39) |
critical splice donor site |
probably null |
|
R9259:Sh3rf1
|
UTSW |
8 |
61,806,838 (GRCm39) |
missense |
probably benign |
0.05 |
R9568:Sh3rf1
|
UTSW |
8 |
61,825,585 (GRCm39) |
missense |
probably benign |
0.03 |
R9688:Sh3rf1
|
UTSW |
8 |
61,679,348 (GRCm39) |
missense |
probably benign |
0.13 |
X0066:Sh3rf1
|
UTSW |
8 |
61,679,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTGGTGCCTCCACCAAACG -3'
(R):5'- AGACCAAGGATTCCAGTGGCTCTC -3'
Sequencing Primer
(F):5'- ATCACCTACCCTGGATGTGGAG -3'
(R):5'- agcactaagaaggctgagaac -3'
|
Posted On |
2014-04-24 |