Incidental Mutation 'R9188:Sh3rf1'
| ID |
697523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
068980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R9188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 61814807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034060
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
| 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
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (71/71) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,139,230 (GRCm39) |
R385L |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,872,561 (GRCm39) |
C13* |
probably null |
Het |
| Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,571 (GRCm39) |
R10C |
probably damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,390,983 (GRCm39) |
I4V |
possibly damaging |
Het |
| Asic2 |
A |
G |
11: 81,042,738 (GRCm39) |
F185S |
probably benign |
Het |
| Asmt |
G |
A |
X: 169,111,583 (GRCm39) |
E322K |
probably damaging |
Het |
| Caprin2 |
T |
C |
6: 148,767,422 (GRCm39) |
D512G |
probably benign |
Het |
| Cltc |
A |
C |
11: 86,627,992 (GRCm39) |
I52S |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,443,276 (GRCm39) |
L1040P |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,509,614 (GRCm39) |
T3019A |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,192,990 (GRCm39) |
C242* |
probably null |
Het |
| Crocc |
G |
T |
4: 140,747,151 (GRCm39) |
N1716K |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,439,223 (GRCm39) |
E12G |
possibly damaging |
Het |
| Dnai4 |
T |
C |
4: 102,939,332 (GRCm39) |
T77A |
|
Het |
| Drc3 |
G |
T |
11: 60,249,615 (GRCm39) |
V45F |
probably damaging |
Het |
| Etv4 |
A |
G |
11: 101,666,202 (GRCm39) |
S108P |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,643,017 (GRCm39) |
D31E |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,698,736 (GRCm39) |
D469E |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,797 (GRCm39) |
H560R |
probably benign |
Het |
| Gabrp |
A |
G |
11: 33,517,252 (GRCm39) |
I140T |
possibly damaging |
Het |
| Get1 |
A |
G |
16: 95,955,363 (GRCm39) |
D140G |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,343,798 (GRCm39) |
T288A |
probably benign |
Het |
| Gucy2c |
T |
C |
6: 136,700,756 (GRCm39) |
D586G |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,484,778 (GRCm39) |
V213A |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,216 (GRCm39) |
D258E |
probably damaging |
Het |
| Ier3 |
G |
T |
17: 36,132,779 (GRCm39) |
G57W |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,426,171 (GRCm39) |
C85S |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,710,942 (GRCm39) |
G384C |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Jak2 |
A |
C |
19: 29,288,353 (GRCm39) |
D1068A |
probably damaging |
Het |
| Klk4 |
T |
C |
7: 43,534,797 (GRCm39) |
I252T |
probably damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,523 (GRCm39) |
C237S |
probably damaging |
Het |
| Krtap1-3 |
T |
C |
11: 99,481,887 (GRCm39) |
T87A |
unknown |
Het |
| Lbhd1 |
A |
T |
19: 8,864,397 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,838,935 (GRCm39) |
R481G |
possibly damaging |
Het |
| Lrrc1 |
T |
C |
9: 77,362,487 (GRCm39) |
Y247C |
probably benign |
Het |
| Marchf1 |
T |
A |
8: 66,908,803 (GRCm39) |
Y174* |
probably null |
Het |
| Mlxip |
A |
T |
5: 123,583,642 (GRCm39) |
T402S |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,560,957 (GRCm39) |
K93E |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,579,792 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,566,789 (GRCm39) |
I487V |
probably benign |
Het |
| Nectin2 |
A |
G |
7: 19,453,119 (GRCm39) |
|
probably null |
Het |
| Nfkbia |
A |
T |
12: 55,537,258 (GRCm39) |
L277H |
probably damaging |
Het |
| Or4n5 |
T |
C |
14: 50,132,366 (GRCm39) |
M298V |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,596 (GRCm39) |
I255F |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,534,095 (GRCm39) |
V1410M |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,188 (GRCm39) |
N506S |
probably damaging |
Het |
| Pik3c2g |
A |
C |
6: 139,599,401 (GRCm39) |
E172D |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,075 (GRCm39) |
D466G |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,747 (GRCm39) |
S509T |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,961,486 (GRCm39) |
D133G |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,263 (GRCm39) |
I394M |
probably benign |
Het |
| Rgl1 |
G |
T |
1: 152,394,922 (GRCm39) |
N715K |
probably damaging |
Het |
| Rnf212 |
G |
T |
5: 108,922,811 (GRCm39) |
S13* |
probably null |
Het |
| Rpgrip1l |
T |
C |
8: 92,031,638 (GRCm39) |
T80A |
probably damaging |
Het |
| Rsl1 |
G |
T |
13: 67,330,185 (GRCm39) |
S211I |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,843 (GRCm39) |
M304V |
probably damaging |
Het |
| Snx16 |
C |
A |
3: 10,485,835 (GRCm39) |
K261N |
possibly damaging |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Styxl1 |
T |
C |
5: 135,794,672 (GRCm39) |
|
probably null |
Het |
| Tarbp2 |
A |
G |
15: 102,430,946 (GRCm39) |
D233G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,421,234 (GRCm39) |
N633Y |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,693 (GRCm39) |
L190P |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,233,244 (GRCm39) |
G55D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,733,468 (GRCm39) |
Y4602* |
probably null |
Het |
| Unc5b |
A |
T |
10: 60,609,550 (GRCm39) |
L582Q |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,610,025 (GRCm39) |
D31G |
probably damaging |
Het |
| Zbtb32 |
C |
T |
7: 30,291,320 (GRCm39) |
|
probably benign |
Het |
| Zfp936 |
C |
T |
7: 42,839,768 (GRCm39) |
L412F |
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 |
|
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'- AGAGTATGAATCCTCCACTTCCC -3'
(R):5'- GAAAGGCCTTTTCTCAGCGG -3'
Sequencing Primer
(F):5'- GAATCCTCCACTTCCCCCACC -3'
(R):5'- TTTTCTCAGCGGGACAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation