Incidental Mutation 'R8711:Sh3rf1'
| ID |
669572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
068565-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R8711 (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 A
at 61783030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 248
(I248K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034060]
[ENSMUST00000209611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034060
AA Change: I248K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: I248K
| 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 damaging
Transcript: ENSMUST00000209611
AA Change: I248K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,969,120 (GRCm39) |
S122T |
probably benign |
Het |
| Abcb11 |
G |
A |
2: 69,095,856 (GRCm39) |
T828I |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,369 (GRCm39) |
N222K |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,313 (GRCm39) |
T211A |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,384,146 (GRCm39) |
S410T |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,100,485 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,824 (GRCm39) |
K265N |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,529,660 (GRCm39) |
M237K |
possibly damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,962 (GRCm39) |
|
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,135 (GRCm39) |
F90L |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,214,598 (GRCm39) |
D1121G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,859 (GRCm39) |
E84D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,743,371 (GRCm39) |
I2187V |
probably benign |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,130 (GRCm39) |
D143V |
unknown |
Het |
| Eif4g2 |
T |
C |
7: 110,673,127 (GRCm39) |
Y855C |
probably damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,709,944 (GRCm39) |
D371G |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,159,129 (GRCm39) |
S3348P |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,684,924 (GRCm39) |
N472Y |
probably benign |
Het |
| Flad1 |
A |
G |
3: 89,316,415 (GRCm39) |
V49A |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,554 (GRCm39) |
T196A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,815,246 (GRCm39) |
N3660D |
possibly damaging |
Het |
| Gabrp |
T |
A |
11: 33,505,023 (GRCm39) |
L259F |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,473 (GRCm39) |
W119R |
unknown |
Het |
| Gng2 |
C |
T |
14: 19,941,438 (GRCm39) |
M1I |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,290,721 (GRCm39) |
N384S |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,606,208 (GRCm39) |
I440V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,767,539 (GRCm39) |
D297G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,928,496 (GRCm39) |
I726V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,867,996 (GRCm39) |
N56S |
probably benign |
Het |
| Laptm4b |
T |
A |
15: 34,277,648 (GRCm39) |
V193E |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,388,350 (GRCm39) |
C2358* |
probably null |
Het |
| Ltbp2 |
C |
T |
12: 84,900,515 (GRCm39) |
S269N |
probably benign |
Het |
| Morc2a |
T |
G |
11: 3,630,013 (GRCm39) |
Y450D |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,407,430 (GRCm39) |
I2740K |
probably benign |
Het |
| Naif1 |
T |
A |
2: 32,344,848 (GRCm39) |
V184E |
probably damaging |
Het |
| Neurl1b |
T |
C |
17: 26,660,747 (GRCm39) |
V540A |
probably damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,431,450 (GRCm39) |
F451Y |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,148 (GRCm39) |
S174P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,951,894 (GRCm39) |
E3953G |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,440,291 (GRCm39) |
S52A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,595 (GRCm39) |
C136S |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,815,550 (GRCm39) |
H1904Y |
|
Het |
| Plec |
C |
T |
15: 76,059,531 (GRCm39) |
D3469N |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,943,064 (GRCm39) |
T20A |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,286 (GRCm39) |
E404K |
possibly damaging |
Het |
| Prkce |
T |
A |
17: 86,795,625 (GRCm39) |
N287K |
probably damaging |
Het |
| Rchy1 |
C |
A |
5: 92,105,397 (GRCm39) |
C108F |
probably damaging |
Het |
| Scpppq1 |
G |
A |
5: 104,219,956 (GRCm39) |
T78I |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,502,232 (GRCm39) |
Y572C |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,026 (GRCm39) |
L30P |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,313 (GRCm39) |
G106S |
probably damaging |
Het |
| Slc43a2 |
A |
C |
11: 75,457,879 (GRCm39) |
M385L |
probably benign |
Het |
| Slc43a3 |
A |
G |
2: 84,768,671 (GRCm39) |
T97A |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,030,351 (GRCm39) |
S223T |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,243,058 (GRCm39) |
C118S |
probably damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,472,491 (GRCm39) |
D94G |
probably damaging |
Het |
| Spred3 |
A |
G |
7: 28,866,086 (GRCm39) |
V71A |
possibly damaging |
Het |
| Srsf5 |
T |
A |
12: 80,994,328 (GRCm39) |
S86T |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 177,990,088 (GRCm39) |
V1386A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,104,258 (GRCm39) |
L743P |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,806,971 (GRCm39) |
V62A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,047,578 (GRCm39) |
L637P |
probably damaging |
Het |
| Tcf12 |
T |
G |
9: 71,757,097 (GRCm39) |
S697R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,508 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Trav5n-4 |
T |
C |
14: 53,550,362 (GRCm39) |
M1T |
probably null |
Het |
| Trbv13-2 |
A |
G |
6: 41,098,716 (GRCm39) |
E97G |
probably benign |
Het |
| Trpa1 |
G |
A |
1: 14,980,998 (GRCm39) |
P135S |
probably damaging |
Het |
| Ugt1a6a |
A |
C |
1: 88,066,590 (GRCm39) |
D132A |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,962 (GRCm39) |
D548E |
possibly damaging |
Het |
| Zbtb39 |
A |
T |
10: 127,578,815 (GRCm39) |
D463V |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,037,858 (GRCm39) |
|
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,004 (GRCm39) |
P161L |
possibly damaging |
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 |
|
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'- TGCTTGGCTTATGACAACAGCATAG -3'
(R):5'- GGACACAAGGAAGGAACTCTTTC -3'
Sequencing Primer
(F):5'- GGCTTATGACAACAGCATAGTTTTG -3'
(R):5'- TCTTTCTAATCTAACAGCAGAGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation