Incidental Mutation 'R8217:Sh3rf1'
| ID |
636421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
067658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R8217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61782964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034060
AA Change: V226A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: V226A
| 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 |
possibly damaging
Transcript: ENSMUST00000209611
AA Change: V226A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,037,921 (GRCm39) |
L406P |
probably damaging |
Het |
| Aph1b |
T |
C |
9: 66,686,554 (GRCm39) |
K239E |
possibly damaging |
Het |
| Atp13a4 |
C |
A |
16: 29,222,619 (GRCm39) |
V1102F |
|
Het |
| B3gat1 |
G |
A |
9: 26,668,165 (GRCm39) |
A265T |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,988,850 (GRCm39) |
E419G |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,080,197 (GRCm39) |
L380P |
probably damaging |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cfi |
A |
C |
3: 129,648,650 (GRCm39) |
N178T |
possibly damaging |
Het |
| Col5a1 |
T |
A |
2: 27,812,135 (GRCm39) |
D72E |
unknown |
Het |
| Cspg4 |
T |
A |
9: 56,797,637 (GRCm39) |
V1367D |
possibly damaging |
Het |
| D5Ertd579e |
A |
C |
5: 36,771,402 (GRCm39) |
S998A |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,109,976 (GRCm39) |
E77G |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,820,937 (GRCm39) |
I662T |
probably benign |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Klhl8 |
A |
G |
5: 104,015,466 (GRCm39) |
V486A |
possibly damaging |
Het |
| Lrrc72 |
A |
T |
12: 36,258,676 (GRCm39) |
D60E |
probably damaging |
Het |
| Marchf5 |
C |
T |
19: 37,185,210 (GRCm39) |
|
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,259,726 (GRCm39) |
I365T |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nod2 |
A |
C |
8: 89,390,785 (GRCm39) |
D364A |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,641,876 (GRCm39) |
M108K |
possibly damaging |
Het |
| Nutm2 |
G |
T |
13: 50,623,759 (GRCm39) |
R152L |
probably benign |
Het |
| Or14c43 |
A |
G |
7: 86,115,390 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,792 (GRCm39) |
M41L |
probably benign |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Pak1ip1 |
T |
A |
13: 41,166,126 (GRCm39) |
S350R |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,079,974 (GRCm39) |
F239L |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pkm |
C |
T |
9: 59,586,092 (GRCm39) |
T524I |
possibly damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,067,717 (GRCm39) |
Q245L |
probably null |
Het |
| Pola2 |
T |
A |
19: 6,013,855 (GRCm39) |
K26N |
possibly damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,480 (GRCm39) |
A995S |
probably benign |
Het |
| Rap2b |
C |
A |
3: 61,272,551 (GRCm39) |
T25K |
possibly damaging |
Het |
| Scrib |
A |
G |
15: 75,939,004 (GRCm39) |
S165P |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,197,713 (GRCm39) |
H2122L |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,599 (GRCm39) |
F200I |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,070,286 (GRCm39) |
H141L |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,089,956 (GRCm39) |
E638V |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,221,202 (GRCm39) |
C15R |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,612,959 (GRCm39) |
D854N |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tec |
A |
T |
5: 72,921,602 (GRCm39) |
M372K |
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,745,373 (GRCm39) |
F237L |
probably benign |
Het |
| Trio |
A |
T |
15: 27,819,055 (GRCm39) |
L1597Q |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,957,247 (GRCm39) |
M723K |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,783,694 (GRCm39) |
I592T |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,986 (GRCm39) |
E768G |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,047,295 (GRCm39) |
|
probably null |
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 |
|
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'- GTTACTGCTTGGCTTATGACAAC -3'
(R):5'- ACTCTTTCTAATCTAACAGCAGAGC -3'
Sequencing Primer
(F):5'- CTGCTTGGCTTATGACAACAGCATAG -3'
(R):5'- CAGAGCCTTTCAAATCTGAGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation