Incidental Mutation 'IGL01485:Sh3rf1'
ID |
88719 |
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: 0.255)
|
Stock # |
IGL01485
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 61782365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 169
(E169A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034060
AA Change: E169A
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034060 Gene: ENSMUSG00000031642 AA Change: E169A
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 benign
Transcript: ENSMUST00000209611
AA Change: E169A
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
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 |
4930590J08Rik |
C |
T |
6: 91,927,003 (GRCm39) |
L888F |
probably damaging |
Het |
Aftph |
G |
T |
11: 20,642,507 (GRCm39) |
A842E |
probably damaging |
Het |
Ankrd13d |
A |
T |
19: 4,323,592 (GRCm39) |
M257K |
probably benign |
Het |
Anks1 |
T |
C |
17: 28,270,558 (GRCm39) |
F786L |
probably damaging |
Het |
Cd2ap |
A |
T |
17: 43,163,365 (GRCm39) |
I20N |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,861,832 (GRCm39) |
T4M |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
Fap |
G |
A |
2: 62,374,655 (GRCm39) |
P248L |
possibly damaging |
Het |
Hps4 |
T |
A |
5: 112,512,377 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
C |
A |
9: 65,029,889 (GRCm39) |
T313K |
probably benign |
Het |
Klhl30 |
G |
A |
1: 91,281,761 (GRCm39) |
V121I |
probably damaging |
Het |
Ldb3 |
C |
A |
14: 34,264,519 (GRCm39) |
E526D |
probably damaging |
Het |
Ldc1 |
T |
A |
4: 130,109,218 (GRCm39) |
Y274F |
probably benign |
Het |
Lhfpl4 |
T |
A |
6: 113,171,082 (GRCm39) |
I35F |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,612,358 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
A |
8: 61,502,860 (GRCm39) |
C436S |
probably benign |
Het |
Nek5 |
C |
A |
8: 22,573,385 (GRCm39) |
A524S |
probably benign |
Het |
Nkx2-3 |
C |
T |
19: 43,601,094 (GRCm39) |
T52M |
possibly damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,036 (GRCm39) |
I305T |
probably benign |
Het |
Or2w2 |
A |
T |
13: 21,758,627 (GRCm39) |
|
probably null |
Het |
Or8b56 |
G |
A |
9: 38,739,895 (GRCm39) |
V303I |
possibly damaging |
Het |
Pappa |
T |
C |
4: 65,107,536 (GRCm39) |
V649A |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,859,661 (GRCm39) |
Y920N |
possibly damaging |
Het |
Pdgfra |
G |
A |
5: 75,324,313 (GRCm39) |
S56N |
probably benign |
Het |
Pigg |
T |
C |
5: 108,484,067 (GRCm39) |
V438A |
possibly damaging |
Het |
Ptn |
A |
T |
6: 36,720,298 (GRCm39) |
C85S |
probably damaging |
Het |
Slc30a10 |
T |
A |
1: 185,187,616 (GRCm39) |
V119E |
probably damaging |
Het |
Speg |
A |
G |
1: 75,364,471 (GRCm39) |
E178G |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,665 (GRCm39) |
Y3105C |
probably damaging |
Het |
Supt3 |
A |
G |
17: 45,430,045 (GRCm39) |
E366G |
possibly damaging |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Ttc21b |
G |
A |
2: 66,082,234 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,219,429 (GRCm39) |
F542L |
probably benign |
Het |
Vmn1r234 |
T |
A |
17: 21,449,171 (GRCm39) |
D28E |
possibly 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 |
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 |
2013-11-18 |