Incidental Mutation 'IGL02108:Sh3rf3'
| ID |
280022 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3rf3
|
| Ensembl Gene |
ENSMUSG00000037990 |
| Gene Name |
SH3 domain containing ring finger 3 |
| Synonyms |
Sh3md4, 4831416G18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58971650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 826
(V826E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153031]
|
| AlphaFold |
Q8C120 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153031
AA Change: V826E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: V826E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
RING
|
52 |
92 |
2.76e-7 |
SMART |
|
low complexity region
|
119 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
170 |
N/A |
INTRINSIC |
|
SH3
|
190 |
245 |
8.24e-18 |
SMART |
|
SH3
|
252 |
311 |
5.56e-15 |
SMART |
|
SH3
|
461 |
518 |
1.43e-17 |
SMART |
|
low complexity region
|
707 |
739 |
N/A |
INTRINSIC |
|
SH3
|
822 |
878 |
5.19e-15 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
C |
8: 56,325,346 (GRCm39) |
I369M |
probably damaging |
Het |
| Aff1 |
T |
G |
5: 103,958,975 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,407,827 (GRCm39) |
P2227T |
unknown |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,043,133 (GRCm39) |
|
probably benign |
Het |
| Bptf |
C |
A |
11: 106,965,814 (GRCm39) |
V1012L |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,407,087 (GRCm39) |
F268L |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,555 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccnb1 |
C |
T |
13: 100,917,665 (GRCm39) |
|
probably null |
Het |
| Cdh19 |
G |
T |
1: 110,817,461 (GRCm39) |
S760R |
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,739,519 (GRCm39) |
|
probably null |
Het |
| Chid1 |
A |
T |
7: 141,112,841 (GRCm39) |
M1K |
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,348,143 (GRCm39) |
T208A |
probably benign |
Het |
| Ecm2 |
T |
A |
13: 49,671,920 (GRCm39) |
Y140* |
probably null |
Het |
| Enox2 |
A |
G |
X: 48,102,393 (GRCm39) |
L533S |
possibly damaging |
Het |
| Fntb |
A |
G |
12: 76,934,631 (GRCm39) |
E167G |
possibly damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,461 (GRCm39) |
V92A |
probably benign |
Het |
| Grsf1 |
C |
T |
5: 88,813,762 (GRCm39) |
R329Q |
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,035,249 (GRCm39) |
D370V |
probably benign |
Het |
| H2ac4 |
T |
C |
13: 23,935,207 (GRCm39) |
V31A |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,690,977 (GRCm39) |
Y491F |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,014,530 (GRCm39) |
Q563L |
probably damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,617 (GRCm39) |
L124Q |
probably damaging |
Het |
| Mbl1 |
T |
C |
14: 40,875,608 (GRCm39) |
S21P |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,296,631 (GRCm39) |
|
probably null |
Het |
| Nmur2 |
T |
C |
11: 55,931,190 (GRCm39) |
T174A |
probably benign |
Het |
| Odf1 |
C |
A |
15: 38,226,623 (GRCm39) |
Y174* |
probably null |
Het |
| Optn |
A |
G |
2: 5,036,084 (GRCm39) |
V466A |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,494 (GRCm39) |
D301E |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,234 (GRCm39) |
V40E |
possibly damaging |
Het |
| Or8g54 |
A |
T |
9: 39,706,808 (GRCm39) |
I46F |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,680,667 (GRCm39) |
S316N |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,869,032 (GRCm39) |
I672K |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,044,710 (GRCm39) |
I63F |
probably damaging |
Het |
| Plet1 |
T |
C |
9: 50,410,387 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,822,433 (GRCm39) |
D211V |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,542,494 (GRCm39) |
W384R |
probably damaging |
Het |
| Prdm11 |
T |
C |
2: 92,806,048 (GRCm39) |
I301V |
probably damaging |
Het |
| Prkar1a |
C |
T |
11: 109,558,351 (GRCm39) |
R357C |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,548 (GRCm39) |
T886A |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,260,831 (GRCm39) |
E156V |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,482,478 (GRCm39) |
T1032A |
probably damaging |
Het |
| Rras2 |
A |
G |
7: 113,659,623 (GRCm39) |
I47T |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Tmem127 |
T |
A |
2: 127,099,026 (GRCm39) |
S132T |
probably damaging |
Het |
| Tnrc6c |
C |
A |
11: 117,612,025 (GRCm39) |
P221Q |
probably benign |
Het |
| Tstd3 |
A |
T |
4: 21,759,366 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
T |
G |
5: 74,189,867 (GRCm39) |
T55P |
probably damaging |
Het |
|
| Other mutations in Sh3rf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Sh3rf3
|
APN |
10 |
58,885,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01898:Sh3rf3
|
APN |
10 |
58,885,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02148:Sh3rf3
|
APN |
10 |
58,922,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
exasperated
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
strained
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Sh3rf3
|
UTSW |
10 |
58,819,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Sh3rf3
|
UTSW |
10 |
58,842,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1313:Sh3rf3
|
UTSW |
10 |
58,907,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1615:Sh3rf3
|
UTSW |
10 |
58,966,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1797:Sh3rf3
|
UTSW |
10 |
58,922,489 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Sh3rf3
|
UTSW |
10 |
58,919,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Sh3rf3
|
UTSW |
10 |
58,939,989 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Sh3rf3
|
UTSW |
10 |
58,649,809 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2353:Sh3rf3
|
UTSW |
10 |
58,842,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Sh3rf3
|
UTSW |
10 |
58,922,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3769:Sh3rf3
|
UTSW |
10 |
58,820,013 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4059:Sh3rf3
|
UTSW |
10 |
58,919,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Sh3rf3
|
UTSW |
10 |
58,919,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Sh3rf3
|
UTSW |
10 |
58,649,526 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4832:Sh3rf3
|
UTSW |
10 |
58,649,905 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4853:Sh3rf3
|
UTSW |
10 |
58,919,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Sh3rf3
|
UTSW |
10 |
58,649,545 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4917:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Sh3rf3
|
UTSW |
10 |
58,922,646 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5125:Sh3rf3
|
UTSW |
10 |
58,967,012 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5640:Sh3rf3
|
UTSW |
10 |
58,649,769 (GRCm39) |
missense |
probably benign |
|
|
R5716:Sh3rf3
|
UTSW |
10 |
58,967,105 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5756:Sh3rf3
|
UTSW |
10 |
58,940,204 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5848:Sh3rf3
|
UTSW |
10 |
58,819,975 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5908:Sh3rf3
|
UTSW |
10 |
58,885,270 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5930:Sh3rf3
|
UTSW |
10 |
58,966,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6036:Sh3rf3
|
UTSW |
10 |
58,649,806 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6392:Sh3rf3
|
UTSW |
10 |
58,842,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6450:Sh3rf3
|
UTSW |
10 |
58,819,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Sh3rf3
|
UTSW |
10 |
58,819,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Sh3rf3
|
UTSW |
10 |
58,919,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Sh3rf3
|
UTSW |
10 |
58,922,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7292:Sh3rf3
|
UTSW |
10 |
58,907,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Sh3rf3
|
UTSW |
10 |
58,922,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7941:Sh3rf3
|
UTSW |
10 |
58,842,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7959:Sh3rf3
|
UTSW |
10 |
58,842,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Sh3rf3
|
UTSW |
10 |
58,885,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8142:Sh3rf3
|
UTSW |
10 |
58,885,205 (GRCm39) |
nonsense |
probably null |
|
|
R8241:Sh3rf3
|
UTSW |
10 |
58,940,242 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8406:Sh3rf3
|
UTSW |
10 |
58,919,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8727:Sh3rf3
|
UTSW |
10 |
58,939,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9341:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Sh3rf3
|
UTSW |
10 |
58,966,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF020:Sh3rf3
|
UTSW |
10 |
58,649,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation