Incidental Mutation 'R7625:Sh3rf1'
| ID |
589390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3rf1
|
| Ensembl Gene |
ENSMUSG00000031642 |
| Gene Name |
SH3 domain containing ring finger 1 |
| Synonyms |
Posh, Sh3md2, 2200003J05Rik |
| MMRRC Submission |
045719-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R7625 (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 61825756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 584
(S584T)
|
| 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: S584T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: S584T
| 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: S584T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,773,587 (GRCm39) |
V506E |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,937,213 (GRCm39) |
V366F |
possibly damaging |
Het |
| Ago1 |
G |
A |
4: 126,337,022 (GRCm39) |
R532C |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,846,449 (GRCm39) |
D182A |
probably damaging |
Het |
| Anxa4 |
T |
C |
6: 86,714,801 (GRCm39) |
D302G |
probably damaging |
Het |
| Apoa4 |
A |
T |
9: 46,154,410 (GRCm39) |
E337V |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,152,158 (GRCm39) |
|
probably null |
Het |
| Atp8b3 |
A |
C |
10: 80,355,980 (GRCm39) |
V1244G |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,085,412 (GRCm39) |
V132M |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,474,534 (GRCm39) |
P166S |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,706,086 (GRCm39) |
S1140R |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,414,377 (GRCm39) |
S783* |
probably null |
Het |
| Col6a1 |
A |
G |
10: 76,549,760 (GRCm39) |
S562P |
unknown |
Het |
| Cpb2 |
G |
A |
14: 75,509,989 (GRCm39) |
V250M |
possibly damaging |
Het |
| Cyp2c38 |
T |
A |
19: 39,451,368 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Dgat1 |
T |
C |
15: 76,387,395 (GRCm39) |
M325V |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,160,377 (GRCm39) |
M118L |
probably benign |
Het |
| Dpy19l3 |
T |
A |
7: 35,452,106 (GRCm39) |
I13L |
probably benign |
Het |
| Enkd1 |
A |
G |
8: 106,431,265 (GRCm39) |
|
probably null |
Het |
| Fam241b |
A |
G |
10: 61,970,479 (GRCm39) |
|
probably benign |
Het |
| Fhit |
T |
A |
14: 9,870,177 (GRCm38) |
|
probably null |
Het |
| Gp6 |
T |
C |
7: 4,373,173 (GRCm39) |
E250G |
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 148,987,150 (GRCm39) |
E84G |
probably benign |
Het |
| Hscb |
T |
A |
5: 110,977,012 (GRCm39) |
I227F |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,292,249 (GRCm39) |
L4047Q |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,541,901 (GRCm39) |
L775P |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,268,476 (GRCm39) |
S2947C |
probably benign |
Het |
| Intu |
T |
C |
3: 40,652,029 (GRCm39) |
S829P |
probably benign |
Het |
| Kcnn3 |
C |
A |
3: 89,516,977 (GRCm39) |
T462K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,517,930 (GRCm39) |
C1622Y |
possibly damaging |
Het |
| Lifr |
T |
C |
15: 7,198,723 (GRCm39) |
Y318H |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,378,543 (GRCm39) |
S332P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,253,598 (GRCm39) |
I489T |
possibly damaging |
Het |
| Mmp8 |
A |
T |
9: 7,566,218 (GRCm39) |
Q358L |
probably benign |
Het |
| Ms4a4a |
T |
A |
19: 11,367,728 (GRCm39) |
|
probably null |
Het |
| Nav1 |
G |
C |
1: 135,395,483 (GRCm39) |
S962C |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,271 (GRCm39) |
R653C |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,161,594 (GRCm39) |
I95N |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,906 (GRCm39) |
I738F |
probably damaging |
Het |
| Nrf1 |
G |
A |
6: 30,116,230 (GRCm39) |
V301I |
probably benign |
Het |
| Oog1 |
T |
C |
12: 87,655,082 (GRCm39) |
F410S |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,165 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or6k4 |
G |
A |
1: 173,964,733 (GRCm39) |
C141Y |
probably benign |
Het |
| Pcdhga8 |
G |
A |
18: 37,859,954 (GRCm39) |
V337I |
probably benign |
Het |
| Pelp1 |
G |
T |
11: 70,286,260 (GRCm39) |
N572K |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,307,036 (GRCm39) |
V1808A |
possibly damaging |
Het |
| Pirt |
A |
C |
11: 66,816,769 (GRCm39) |
S27R |
probably damaging |
Het |
| Pramel20 |
A |
T |
4: 143,298,821 (GRCm39) |
I255L |
probably benign |
Het |
| Rgs17 |
A |
T |
10: 5,791,488 (GRCm39) |
D96E |
probably benign |
Het |
| Senp1 |
A |
G |
15: 97,964,679 (GRCm39) |
F206L |
probably benign |
Het |
| Tex44 |
A |
T |
1: 86,354,459 (GRCm39) |
K123* |
probably null |
Het |
| Tpst2 |
C |
A |
5: 112,455,887 (GRCm39) |
T142K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,085 (GRCm39) |
G2040R |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,263,905 (GRCm39) |
I1042F |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,693 (GRCm39) |
S104P |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,003,252 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
G |
A |
2: 44,892,584 (GRCm39) |
A223V |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,096,520 (GRCm39) |
D303G |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 29,777,930 (GRCm39) |
S84P |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,420,736 (GRCm39) |
H71L |
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 |
|
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 |
|
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'- TGCCTCCCAAGCTAAAGTCTC -3'
(R):5'- ACTGCTGGCCATATGGTTTGC -3'
Sequencing Primer
(F):5'- AGCTAAAGTCTCTATGTCTACTGCGG -3'
(R):5'- CTGGCCATATGGTTTGCTAGTTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation