Incidental Mutation 'R9259:Sh3rf1'
| ID |
702103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R9259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 61806838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 379
(A379P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(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: A379P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: A379P
| 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: A379P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,155,816 (GRCm39) |
I255V |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,576,604 (GRCm39) |
I986N |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,053,863 (GRCm39) |
M164K |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,749,949 (GRCm39) |
H813Y |
|
Het |
| Alas1 |
A |
T |
9: 106,118,835 (GRCm39) |
S195T |
probably benign |
Het |
| Aldoart1 |
T |
C |
4: 72,770,680 (GRCm39) |
T43A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,644,873 (GRCm39) |
D2537G |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,302 (GRCm39) |
T1040A |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,784,532 (GRCm39) |
I120T |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,278 (GRCm39) |
E46G |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,559,661 (GRCm39) |
V199E |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,696,956 (GRCm39) |
S236P |
probably damaging |
Het |
| Atp5mc2 |
T |
A |
15: 102,571,561 (GRCm39) |
N110I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,576 (GRCm39) |
M280T |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,736,817 (GRCm39) |
T134A |
possibly damaging |
Het |
| Clec4n |
C |
A |
6: 123,212,424 (GRCm39) |
P80Q |
probably damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,375 (GRCm39) |
K274E |
probably benign |
Het |
| Cntrob |
A |
T |
11: 69,211,665 (GRCm39) |
D186E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,232,787 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Dcun1d3 |
A |
G |
7: 119,457,052 (GRCm39) |
V220A |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,242,757 (GRCm39) |
N1127K |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,614 (GRCm39) |
S206L |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,295,325 (GRCm39) |
E218G |
probably damaging |
Het |
| Fkbp2 |
G |
T |
19: 6,955,960 (GRCm39) |
Q82K |
probably benign |
Het |
| Gpr161 |
T |
C |
1: 165,138,025 (GRCm39) |
Y204H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,661,318 (GRCm39) |
D206V |
probably damaging |
Het |
| Hoxb9 |
G |
A |
11: 96,162,762 (GRCm39) |
G132D |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,454,875 (GRCm39) |
V117M |
possibly damaging |
Het |
| Inhbe |
A |
G |
10: 127,186,844 (GRCm39) |
F112S |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,766,561 (GRCm39) |
Y1481N |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,456,726 (GRCm39) |
H303L |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 942,640 (GRCm39) |
E1435G |
possibly damaging |
Het |
| Kifc1 |
G |
T |
17: 34,101,165 (GRCm39) |
T599K |
possibly damaging |
Het |
| Klhl38 |
T |
C |
15: 58,186,471 (GRCm39) |
E86G |
probably benign |
Het |
| Mcub |
G |
C |
3: 129,720,070 (GRCm39) |
T141R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,969 (GRCm39) |
V274D |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,118,229 (GRCm39) |
V803M |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,642 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pbld1 |
A |
G |
10: 62,897,436 (GRCm39) |
T46A |
possibly damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Perm1 |
C |
T |
4: 156,303,607 (GRCm39) |
T717I |
probably benign |
Het |
| Pim1 |
G |
A |
17: 29,710,181 (GRCm39) |
A22T |
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,043,714 (GRCm39) |
P156L |
probably damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,359,612 (GRCm39) |
R130C |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,430,525 (GRCm39) |
W321L |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,990,200 (GRCm39) |
D504V |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,975,639 (GRCm39) |
T65A |
probably damaging |
Het |
| Rtcb |
A |
G |
10: 85,774,925 (GRCm39) |
I490T |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,505,855 (GRCm39) |
L967I |
probably damaging |
Het |
| Sec63 |
A |
C |
10: 42,699,937 (GRCm39) |
M666L |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,376 (GRCm39) |
L174I |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,067,124 (GRCm39) |
S1935N |
possibly damaging |
Het |
| Susd6 |
A |
T |
12: 80,898,030 (GRCm39) |
Q55L |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,897,867 (GRCm39) |
E373G |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,379,640 (GRCm39) |
Y372C |
probably damaging |
Het |
| Tm6sf2 |
A |
T |
8: 70,530,585 (GRCm39) |
I222L |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,484 (GRCm39) |
V321E |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,670,350 (GRCm39) |
N172S |
|
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,838,989 (GRCm39) |
S2185F |
probably damaging |
Het |
| Wapl |
G |
T |
14: 34,463,052 (GRCm39) |
V1131L |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,224,280 (GRCm39) |
M852V |
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 |
|
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 |
|
|
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'- GTCTGTGTGACTTCGTCCAG -3'
(R):5'- GCTGCTGGCAAGAAACAGTC -3'
Sequencing Primer
(F):5'- CCAGGTCAACTTGTCTGGCATAAG -3'
(R):5'- CTGCTGGCAAGAAACAGTCTTTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation