Incidental Mutation 'IGL01071:Sh3rf1'
ID |
51723 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3rf1
|
Ensembl Gene |
ENSMUSG00000031642 |
Gene Name |
SH3 domain containing ring finger 1 |
Synonyms |
Posh, Sh3md2, 2200003J05Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
IGL01071
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61678993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 12
(C12S)
|
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: C12S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034060 Gene: ENSMUSG00000031642 AA Change: C12S
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: C12S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
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 |
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 |
R1569:Sh3rf1
|
UTSW |
8 |
61,837,896 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-06-21 |