Incidental Mutation 'R3159:Sh3rf1'
| ID |
258062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61679321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 121
(P121L)
|
| 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: P121L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: P121L
| 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: P121L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Isg20 |
C |
A |
7: 78,564,201 (GRCm39) |
A36E |
possibly damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,105,760 (GRCm39) |
W332R |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,999 (GRCm39) |
C556R |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
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 |
|
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'- GAATGCCGGACTCTTGTTGG -3'
(R):5'- TGTCGGATCCAGTCTTATTTCAAG -3'
Sequencing Primer
(F):5'- GTCGACGAGCTCCCCAGTAAC -3'
(R):5'- TTTCAAGAGAAAATAAGGTCCTAAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation