Incidental Mutation 'IGL02649:Sh3rf1'
| ID |
302072 |
| 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 # |
IGL02649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61816225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 494
(M494K)
|
| 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: M494K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: M494K
| 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 |
noncoding transcript
Transcript: ENSMUST00000072570
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209611
AA Change: M494K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210210
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,486,472 (GRCm39) |
I4F |
probably benign |
Het |
| Adamts17 |
T |
G |
7: 66,499,626 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,117,156 (GRCm39) |
M1008L |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrnl1 |
T |
G |
19: 57,638,873 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
T |
A |
2: 27,344,362 (GRCm39) |
E456V |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,573,252 (GRCm39) |
L712H |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,961,807 (GRCm39) |
T38S |
probably damaging |
Het |
| Chadl |
T |
A |
15: 81,580,059 (GRCm39) |
I59F |
probably benign |
Het |
| Chmp3 |
T |
C |
6: 71,529,417 (GRCm39) |
M27T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,275,763 (GRCm39) |
T295I |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,369 (GRCm39) |
|
probably null |
Het |
| Dennd2a |
T |
A |
6: 39,447,290 (GRCm39) |
H776L |
probably benign |
Het |
| Dimt1 |
G |
A |
13: 107,085,219 (GRCm39) |
R55K |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,319 (GRCm39) |
D1626V |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,465 (GRCm39) |
S3487P |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,787 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Ifna12 |
A |
T |
4: 88,521,091 (GRCm39) |
V152E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,930,974 (GRCm39) |
C903S |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,313,672 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Isyna1 |
T |
C |
8: 71,048,904 (GRCm39) |
S328P |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,472,303 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,122,788 (GRCm39) |
T764I |
possibly damaging |
Het |
| Lta4h |
T |
C |
10: 93,308,831 (GRCm39) |
V377A |
probably benign |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,328,418 (GRCm39) |
L329F |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,628 (GRCm39) |
T638A |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,753 (GRCm39) |
T10A |
probably damaging |
Het |
| Or14j8 |
A |
T |
17: 38,263,864 (GRCm39) |
F17Y |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,713 (GRCm39) |
R165S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,172,604 (GRCm39) |
N296I |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,519,912 (GRCm39) |
I1385M |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,141,378 (GRCm39) |
V647A |
probably damaging |
Het |
| Pnp |
T |
C |
14: 51,185,303 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 4,905,327 (GRCm39) |
I1656K |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,027,472 (GRCm39) |
E299* |
probably null |
Het |
| Sbsn |
C |
A |
7: 30,452,683 (GRCm39) |
A566D |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,772,885 (GRCm39) |
V226E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,986 (GRCm39) |
I339N |
possibly damaging |
Het |
| Tenm2 |
G |
T |
11: 36,097,912 (GRCm39) |
S445R |
possibly damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,783 (GRCm39) |
K190N |
probably benign |
Het |
| Tnip2 |
A |
T |
5: 34,671,075 (GRCm39) |
L56Q |
probably damaging |
Het |
| Trpv1 |
C |
T |
11: 73,141,612 (GRCm39) |
S485F |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,437 (GRCm39) |
M115T |
probably benign |
Het |
| Zbtb38 |
G |
A |
9: 96,568,672 (GRCm39) |
T804I |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,167 (GRCm39) |
S430P |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation