Incidental Mutation 'R9568:Sh3rf1'
| ID |
721762 |
| 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: 0.276)
|
| Stock # |
R9568 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
61676906-61849105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61825585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 527
(A527S)
|
| 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: A527S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: A527S
| 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: A527S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
G |
12: 113,508,020 (GRCm39) |
V131G |
possibly damaging |
Het |
| Agr3 |
G |
T |
12: 35,998,349 (GRCm39) |
M149I |
probably benign |
Het |
| Alox12b |
T |
A |
11: 69,054,836 (GRCm39) |
C280S |
possibly damaging |
Het |
| Amhr2 |
C |
A |
15: 102,353,954 (GRCm39) |
Q16K |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,609,381 (GRCm39) |
T1387A |
probably benign |
Het |
| B3gnt9 |
A |
C |
8: 105,980,203 (GRCm39) |
F395C |
probably damaging |
Het |
| BC048562 |
A |
G |
9: 108,322,905 (GRCm39) |
D80G |
probably damaging |
Het |
| Ccdc65 |
T |
A |
15: 98,620,819 (GRCm39) |
M438K |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,938,251 (GRCm39) |
R240G |
probably damaging |
Het |
| Cish |
A |
T |
9: 107,177,593 (GRCm39) |
S90C |
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,430,998 (GRCm39) |
S881T |
possibly damaging |
Het |
| Col6a6 |
G |
A |
9: 105,657,926 (GRCm39) |
T762I |
possibly damaging |
Het |
| Cpa1 |
A |
G |
6: 30,640,060 (GRCm39) |
K49E |
probably benign |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 48,150,942 (GRCm39) |
S483P |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,831,044 (GRCm39) |
T1643I |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,599,638 (GRCm39) |
K314E |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,786,711 (GRCm39) |
P411T |
probably damaging |
Het |
| Fam186b |
T |
G |
15: 99,176,571 (GRCm39) |
K773T |
probably damaging |
Het |
| Fancl |
T |
A |
11: 26,418,672 (GRCm39) |
V259E |
probably benign |
Het |
| Fat4 |
T |
G |
3: 38,946,156 (GRCm39) |
I1683S |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,732,356 (GRCm39) |
H114Q |
probably damaging |
Het |
| Fndc11 |
T |
C |
2: 180,864,046 (GRCm39) |
F284L |
probably damaging |
Het |
| Galns |
A |
G |
8: 123,311,649 (GRCm39) |
|
probably null |
Het |
| Gch1 |
A |
G |
14: 47,426,637 (GRCm39) |
S30P |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,942,346 (GRCm39) |
I74T |
probably benign |
Het |
| Gfral |
A |
T |
9: 76,104,383 (GRCm39) |
C210S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,247 (GRCm39) |
A13T |
unknown |
Het |
| Gm9936 |
A |
T |
5: 114,995,166 (GRCm39) |
D150E |
unknown |
Het |
| Gsn |
C |
A |
2: 35,174,003 (GRCm39) |
D75E |
probably benign |
Het |
| Ighd2-7 |
T |
C |
12: 113,420,344 (GRCm39) |
T5A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,649,782 (GRCm39) |
R152L |
probably benign |
Het |
| Klhl3 |
A |
T |
13: 58,157,126 (GRCm39) |
L620Q |
probably damaging |
Het |
| Larp7-ps |
G |
T |
4: 92,079,915 (GRCm39) |
Y24* |
probably null |
Het |
| Lpl |
G |
A |
8: 69,340,235 (GRCm39) |
V77M |
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,058,916 (GRCm39) |
H436Q |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,569,227 (GRCm39) |
C3965R |
|
Het |
| Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
| Manea |
C |
A |
4: 26,340,468 (GRCm39) |
D165Y |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,394,476 (GRCm39) |
Q992L |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,821 (GRCm39) |
T472A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,394 (GRCm39) |
W546* |
probably null |
Het |
| Olfml3 |
T |
G |
3: 103,644,282 (GRCm39) |
Y129S |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,864 (GRCm39) |
D307E |
probably benign |
Het |
| Or5h19 |
C |
A |
16: 58,856,213 (GRCm39) |
V296F |
probably damaging |
Het |
| Or6z5 |
A |
G |
7: 6,477,334 (GRCm39) |
E75G |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,015,814 (GRCm39) |
I312F |
probably benign |
Het |
| P2rx6 |
A |
C |
16: 17,385,300 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
A |
T |
15: 89,045,160 (GRCm39) |
Y1095* |
probably null |
Het |
| Pmepa1 |
G |
A |
2: 173,069,794 (GRCm39) |
R216C |
probably damaging |
Het |
| Prodh |
A |
G |
16: 17,902,619 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
G |
13: 63,689,987 (GRCm39) |
Y389H |
probably damaging |
Het |
| Ptgs2 |
G |
T |
1: 149,976,842 (GRCm39) |
|
probably null |
Het |
| Rbm14 |
A |
G |
19: 4,861,464 (GRCm39) |
Y25H |
probably damaging |
Het |
| Rfc2 |
T |
C |
5: 134,622,112 (GRCm39) |
L197P |
probably damaging |
Het |
| Rnf19b |
G |
T |
4: 128,967,397 (GRCm39) |
W313L |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,032,218 (GRCm39) |
Y623C |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,005,932 (GRCm39) |
W147R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,680 (GRCm39) |
L401P |
probably damaging |
Het |
| Slc4a7 |
A |
G |
14: 14,796,073 (GRCm38) |
|
probably null |
Het |
| Stab2 |
A |
G |
10: 86,699,420 (GRCm39) |
Y1933H |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,688 (GRCm39) |
V1037E |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,775,428 (GRCm39) |
H466Q |
probably benign |
Het |
| Tmco5 |
G |
A |
2: 116,710,730 (GRCm39) |
E17K |
probably damaging |
Het |
| Tmem69 |
G |
A |
4: 116,411,972 (GRCm39) |
S12F |
probably damaging |
Het |
| Trp53 |
C |
A |
11: 69,478,392 (GRCm39) |
Y100* |
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,664,510 (GRCm39) |
H956Q |
probably benign |
Het |
| Tsnaxip1 |
G |
A |
8: 106,569,135 (GRCm39) |
R495H |
probably benign |
Het |
| Vmn1r237 |
A |
T |
17: 21,534,777 (GRCm39) |
I167F |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,368,292 (GRCm39) |
D260G |
probably benign |
Het |
| Zbtb38 |
G |
A |
9: 96,570,944 (GRCm39) |
H47Y |
probably damaging |
Het |
| Zfp184 |
G |
T |
13: 22,142,897 (GRCm39) |
C201F |
probably benign |
Het |
| Zfp384 |
T |
A |
6: 125,001,796 (GRCm39) |
I147N |
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 |
|
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 |
|
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'- AAGTGGTTCTGAGACCATTCACC -3'
(R):5'- ATGTGCAGCAGGACCTTAGC -3'
Sequencing Primer
(F):5'- GAGACCATTCACCGTCTCG -3'
(R):5'- GACCTTAGCCTGAGGACTTGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation