Incidental Mutation 'IGL02835:Sh3rf1'
| ID |
391977 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02835 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61679081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 41
(V41E)
|
| 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: V41E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: V41E
| 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: V41E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4393 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
A |
8: 79,937,284 (GRCm39) |
K208* |
probably null |
Het |
| A530016L24Rik |
A |
C |
12: 112,461,420 (GRCm39) |
|
probably null |
Het |
| A830018L16Rik |
A |
C |
1: 12,042,279 (GRCm39) |
D433A |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,401,515 (GRCm39) |
I3985N |
probably damaging |
Het |
| Abhd17c |
C |
T |
7: 83,800,731 (GRCm39) |
D108N |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,326,173 (GRCm39) |
D94N |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,903 (GRCm39) |
D50G |
probably benign |
Het |
| Angptl1 |
A |
G |
1: 156,686,090 (GRCm39) |
D392G |
probably benign |
Het |
| Apob |
A |
G |
12: 8,065,097 (GRCm39) |
N3989S |
possibly damaging |
Het |
| AU018091 |
T |
C |
7: 3,218,897 (GRCm39) |
D12G |
unknown |
Het |
| Cyfip2 |
A |
T |
11: 46,140,598 (GRCm39) |
S742T |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,055 (GRCm39) |
S892N |
probably damaging |
Het |
| Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
| Egfem1 |
T |
C |
3: 29,711,390 (GRCm39) |
L323P |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fjx1 |
G |
A |
2: 102,281,092 (GRCm39) |
A281V |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,409,625 (GRCm39) |
D619E |
unknown |
Het |
| Gm4795 |
A |
C |
10: 44,882,254 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5250 |
T |
C |
1: 13,132,418 (GRCm39) |
|
noncoding transcript |
Het |
| Gtdc1 |
A |
T |
2: 44,646,324 (GRCm39) |
Y101* |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,623,146 (GRCm39) |
I583T |
possibly damaging |
Het |
| Hyal4 |
G |
A |
6: 24,765,714 (GRCm39) |
R356H |
probably benign |
Het |
| Il22ra2 |
C |
A |
10: 19,502,424 (GRCm39) |
T81K |
probably benign |
Het |
| Iqcm |
T |
A |
8: 76,281,511 (GRCm39) |
|
probably benign |
Het |
| Izumo4 |
G |
A |
10: 80,540,959 (GRCm39) |
V220I |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,554,133 (GRCm39) |
D899E |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,335,648 (GRCm39) |
N1358K |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,698,863 (GRCm39) |
|
probably null |
Het |
| Lyst |
C |
T |
13: 13,835,685 (GRCm39) |
T1789M |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,049,760 (GRCm39) |
T732A |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,757,816 (GRCm39) |
I305N |
probably damaging |
Het |
| Mettl13 |
A |
G |
1: 162,373,585 (GRCm39) |
I222T |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,883,854 (GRCm39) |
T363I |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,584,319 (GRCm39) |
F2583L |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,625,290 (GRCm39) |
R2267Q |
possibly damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,589,144 (GRCm39) |
Y178H |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,103,512 (GRCm39) |
F243I |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,523,869 (GRCm39) |
I537K |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,614 (GRCm39) |
Y867H |
probably damaging |
Het |
| Pakap |
C |
G |
4: 57,883,044 (GRCm39) |
P837A |
probably damaging |
Het |
| Pik3r4 |
A |
C |
9: 105,549,905 (GRCm39) |
I999L |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,952,292 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polg2 |
A |
T |
11: 106,666,266 (GRCm39) |
V293E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,817 (GRCm39) |
Y402F |
probably damaging |
Het |
| Prok1 |
T |
C |
3: 107,144,531 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
T |
C |
5: 145,091,500 (GRCm39) |
D533G |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,707,891 (GRCm39) |
V1484A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,000,293 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
T |
G |
1: 107,530,586 (GRCm39) |
F121L |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,182,126 (GRCm39) |
N725S |
possibly damaging |
Het |
| Stab1 |
A |
T |
14: 30,867,981 (GRCm39) |
|
probably null |
Het |
| Themis |
A |
T |
10: 28,637,616 (GRCm39) |
|
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,327,780 (GRCm39) |
Y391F |
probably benign |
Het |
| Trmt1 |
T |
G |
8: 85,423,589 (GRCm39) |
V327G |
probably null |
Het |
| Vill |
C |
T |
9: 118,896,513 (GRCm39) |
T120M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCACAACTATGAACGTTC -3'
(R):5'- CTGGGAGCTCTGCAGATCTTTC -3'
Sequencing Primer
(F):5'- ACTATGAACGTTCTGAAGCCG -3'
(R):5'- ATTAACCACAGTGCTGCCCTG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation