Incidental Mutation 'IGL02148:Sh3rf3'
ID |
281870 |
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 # |
IGL02148
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
58649181-58974738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58922562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 546
(M546T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153031]
|
AlphaFold |
Q8C120 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148267
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152924
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153031
AA Change: M546T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000120938 Gene: ENSMUSG00000037990 AA Change: M546T
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
C |
T |
4: 63,300,716 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,733,469 (GRCm39) |
V663A |
possibly damaging |
Het |
Cdh13 |
A |
G |
8: 119,925,697 (GRCm39) |
D355G |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,315,983 (GRCm39) |
|
probably benign |
Het |
Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
Dclk1 |
T |
A |
3: 55,407,520 (GRCm39) |
V233D |
probably damaging |
Het |
Ddx59 |
T |
C |
1: 136,361,565 (GRCm39) |
S477P |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,353,748 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,045,835 (GRCm39) |
L453P |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,064,044 (GRCm39) |
H380R |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,669,298 (GRCm39) |
M51V |
probably benign |
Het |
Fgb |
T |
C |
3: 82,950,594 (GRCm39) |
M387V |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,302 (GRCm39) |
L1522S |
probably benign |
Het |
Gdf9 |
T |
A |
11: 53,327,569 (GRCm39) |
M175K |
probably benign |
Het |
Gm20547 |
C |
T |
17: 35,079,524 (GRCm39) |
D243N |
probably benign |
Het |
Gramd1b |
T |
A |
9: 40,227,060 (GRCm39) |
D299V |
probably damaging |
Het |
Gsg1l |
G |
T |
7: 125,522,671 (GRCm39) |
Q186K |
possibly damaging |
Het |
H2bl1 |
A |
T |
13: 99,120,691 (GRCm39) |
F112I |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,472,648 (GRCm39) |
|
probably null |
Het |
Kcnh5 |
A |
G |
12: 74,944,426 (GRCm39) |
L941P |
possibly damaging |
Het |
Lrrc8d |
A |
G |
5: 105,960,253 (GRCm39) |
D221G |
possibly damaging |
Het |
Med19 |
T |
C |
2: 84,515,603 (GRCm39) |
F96L |
probably damaging |
Het |
Mei1 |
C |
A |
15: 81,976,912 (GRCm39) |
S589* |
probably null |
Het |
Myh15 |
G |
T |
16: 48,936,678 (GRCm39) |
D708Y |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,753 (GRCm39) |
|
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,566 (GRCm39) |
Y276N |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,950,011 (GRCm39) |
C306Y |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,607,369 (GRCm39) |
K1279E |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,798,810 (GRCm39) |
T369I |
probably damaging |
Het |
Plekha8 |
A |
G |
6: 54,592,271 (GRCm39) |
S32G |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,304 (GRCm39) |
Y22N |
probably benign |
Het |
Sema4g |
A |
G |
19: 44,984,908 (GRCm39) |
T113A |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc27a5 |
A |
G |
7: 12,728,878 (GRCm39) |
V328A |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,688 (GRCm39) |
N78S |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,555,388 (GRCm39) |
T179A |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,244,547 (GRCm39) |
I475T |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,400,488 (GRCm38) |
Y621C |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,969,438 (GRCm39) |
F727L |
probably benign |
Het |
Tufm |
T |
C |
7: 126,088,332 (GRCm39) |
L75P |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,796 (GRCm39) |
D146E |
probably damaging |
Het |
Usp15 |
G |
A |
10: 122,963,742 (GRCm39) |
T533I |
probably damaging |
Het |
Vmn1r113 |
A |
G |
7: 20,521,747 (GRCm39) |
T180A |
probably benign |
Het |
Vmn1r205 |
G |
T |
13: 22,776,395 (GRCm39) |
P236T |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,838,013 (GRCm39) |
C825G |
probably damaging |
Het |
Zfp712 |
T |
A |
13: 67,190,222 (GRCm39) |
I102F |
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 |
IGL02108:Sh3rf3
|
APN |
10 |
58,971,650 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |