Incidental Mutation 'R3724:Sh3rf1'
ID |
270680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3rf1
|
Ensembl Gene |
ENSMUSG00000031642 |
Gene Name |
SH3 domain containing ring finger 1 |
Synonyms |
Posh, Sh3md2, 2200003J05Rik |
MMRRC Submission |
040715-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.255)
|
Stock # |
R3724 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61825756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 584
(S584P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034060
AA Change: S584P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034060 Gene: ENSMUSG00000031642 AA Change: S584P
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: S584P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
T |
8: 120,876,099 (GRCm39) |
R133L |
probably damaging |
Het |
Abhd8 |
G |
A |
8: 71,914,136 (GRCm39) |
A164V |
probably benign |
Het |
Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
Atl1 |
A |
G |
12: 70,006,154 (GRCm39) |
T487A |
probably damaging |
Het |
C2cd6 |
C |
T |
1: 59,105,394 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,353 (GRCm39) |
E110G |
probably damaging |
Het |
Ccne2 |
T |
C |
4: 11,203,039 (GRCm39) |
C386R |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,502,482 (GRCm39) |
V143I |
probably benign |
Het |
Cyp11a1 |
A |
T |
9: 57,926,605 (GRCm39) |
M47L |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,270,566 (GRCm39) |
L956P |
probably benign |
Het |
Enkd1 |
A |
T |
8: 106,430,557 (GRCm39) |
V326E |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,403,180 (GRCm39) |
|
probably benign |
Het |
Etv5 |
T |
C |
16: 22,254,662 (GRCm39) |
D66G |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,228,080 (GRCm39) |
|
probably benign |
Het |
Foxf2 |
A |
G |
13: 31,814,513 (GRCm39) |
K409R |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,900 (GRCm39) |
T1398A |
probably benign |
Het |
Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
Gtdc1 |
T |
C |
2: 44,646,319 (GRCm39) |
E44G |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,565,269 (GRCm39) |
Y2286F |
possibly damaging |
Het |
Iars1 |
A |
G |
13: 49,840,860 (GRCm39) |
|
probably null |
Het |
Ifna5 |
A |
G |
4: 88,754,171 (GRCm39) |
E137G |
probably damaging |
Het |
Itih4 |
G |
A |
14: 30,614,541 (GRCm39) |
E468K |
possibly damaging |
Het |
Kat6a |
A |
T |
8: 23,352,804 (GRCm39) |
H196L |
probably damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
Klhl29 |
C |
T |
12: 5,140,603 (GRCm39) |
V680I |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,060,089 (GRCm39) |
I72T |
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,119,760 (GRCm39) |
|
probably benign |
Het |
Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
Mindy3 |
T |
A |
2: 12,360,165 (GRCm39) |
M6L |
probably damaging |
Het |
Mrpl9 |
T |
A |
3: 94,355,073 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,020,802 (GRCm39) |
T430S |
probably benign |
Het |
Or4ac1-ps1 |
T |
G |
2: 88,370,630 (GRCm39) |
|
noncoding transcript |
Het |
Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
Prkce |
A |
T |
17: 86,476,051 (GRCm39) |
K11* |
probably null |
Het |
Pros1 |
T |
C |
16: 62,720,692 (GRCm39) |
I117T |
possibly damaging |
Het |
Prpf38b |
T |
C |
3: 108,811,656 (GRCm39) |
|
probably benign |
Het |
Slit2 |
T |
C |
5: 48,414,225 (GRCm39) |
|
probably null |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Stambp |
C |
T |
6: 83,534,448 (GRCm39) |
E280K |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,730,781 (GRCm39) |
I1329T |
probably damaging |
Het |
Tex2 |
G |
A |
11: 106,420,156 (GRCm39) |
T869I |
unknown |
Het |
Tlk2 |
A |
G |
11: 105,138,390 (GRCm39) |
T281A |
probably benign |
Het |
Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
Trim3 |
A |
G |
7: 105,260,396 (GRCm39) |
F702L |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
Vmn2r20 |
T |
A |
6: 123,362,706 (GRCm39) |
T693S |
probably benign |
Het |
Zfand2b |
A |
G |
1: 75,146,499 (GRCm39) |
K125E |
possibly damaging |
Het |
Zfp422 |
C |
T |
6: 116,603,340 (GRCm39) |
A220T |
probably benign |
Het |
Zfp747 |
A |
T |
7: 126,973,762 (GRCm39) |
V136D |
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 |
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 |
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'- GCCTCCCAAGCTAAAGTCTC -3'
(R):5'- ACTGCTGGCCATATGGTTTGC -3'
Sequencing Primer
(F):5'- AGCTAAAGTCTCTATGTCTACTGCGG -3'
(R):5'- CTGGCCATATGGTTTGCTAGTTTG -3'
|
Posted On |
2015-03-18 |