Incidental Mutation 'IGL03053:Ehd3'
ID |
409146 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ehd3
|
Ensembl Gene |
ENSMUSG00000024065 |
Gene Name |
EH-domain containing 3 |
Synonyms |
Ehd2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03053
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
74111836-74139088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74112437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 67
(Y67C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024860]
|
AlphaFold |
Q9QXY6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024860
AA Change: Y67C
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024860 Gene: ENSMUSG00000024065 AA Change: Y67C
Domain | Start | End | E-Value | Type |
Pfam:EHD_N
|
24 |
56 |
1.6e-21 |
PFAM |
Pfam:MMR_HSR1
|
60 |
220 |
1.7e-8 |
PFAM |
Pfam:Dynamin_N
|
61 |
221 |
1.3e-12 |
PFAM |
low complexity region
|
420 |
433 |
N/A |
INTRINSIC |
EH
|
438 |
531 |
1.95e-45 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
G |
A |
4: 106,613,050 (GRCm39) |
Q342* |
probably null |
Het |
Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
Atp1a2 |
G |
A |
1: 172,105,923 (GRCm39) |
T914I |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
C1qtnf12 |
A |
T |
4: 156,050,921 (GRCm39) |
N297Y |
probably damaging |
Het |
Cgas |
A |
T |
9: 78,344,719 (GRCm39) |
F234Y |
probably benign |
Het |
Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,336,170 (GRCm39) |
V112A |
probably benign |
Het |
Elavl4 |
A |
T |
4: 110,108,691 (GRCm39) |
S16T |
possibly damaging |
Het |
F2rl1 |
A |
C |
13: 95,650,126 (GRCm39) |
V252G |
probably benign |
Het |
Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
Hnf1a |
T |
A |
5: 115,108,792 (GRCm39) |
M38L |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,905,564 (GRCm39) |
N793S |
probably benign |
Het |
Kit |
A |
G |
5: 75,771,574 (GRCm39) |
N244D |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,814,276 (GRCm39) |
E60G |
possibly damaging |
Het |
Obsl1 |
T |
C |
1: 75,469,723 (GRCm39) |
H1098R |
probably benign |
Het |
Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
Or4c123 |
A |
C |
2: 89,126,789 (GRCm39) |
I275S |
probably damaging |
Het |
Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,206 (GRCm39) |
R234G |
possibly damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,281,664 (GRCm39) |
I42T |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
Rasgrp2 |
T |
C |
19: 6,457,362 (GRCm39) |
|
probably benign |
Het |
Rc3h1 |
T |
A |
1: 160,783,387 (GRCm39) |
D734E |
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,737 (GRCm39) |
K619E |
probably benign |
Het |
Tnfrsf26 |
T |
C |
7: 143,168,597 (GRCm39) |
D147G |
possibly damaging |
Het |
Ufl1 |
A |
G |
4: 25,275,833 (GRCm39) |
I110T |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,933 (GRCm39) |
S151P |
possibly damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,800,077 (GRCm39) |
Y755C |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably damaging |
Het |
Zng1 |
T |
A |
19: 24,932,741 (GRCm39) |
E97D |
probably damaging |
Het |
Zzef1 |
G |
T |
11: 72,722,365 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ehd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01010:Ehd3
|
APN |
17 |
74,134,484 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01400:Ehd3
|
APN |
17 |
74,135,089 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01557:Ehd3
|
APN |
17 |
74,112,275 (GRCm39) |
missense |
probably benign |
|
IGL02214:Ehd3
|
APN |
17 |
74,127,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02796:Ehd3
|
UTSW |
17 |
74,123,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Ehd3
|
UTSW |
17 |
74,112,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Ehd3
|
UTSW |
17 |
74,136,928 (GRCm39) |
missense |
probably benign |
0.00 |
R1029:Ehd3
|
UTSW |
17 |
74,123,321 (GRCm39) |
missense |
probably benign |
0.00 |
R1295:Ehd3
|
UTSW |
17 |
74,135,181 (GRCm39) |
missense |
probably damaging |
0.97 |
R1386:Ehd3
|
UTSW |
17 |
74,127,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Ehd3
|
UTSW |
17 |
74,137,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Ehd3
|
UTSW |
17 |
74,134,390 (GRCm39) |
missense |
probably benign |
0.01 |
R4873:Ehd3
|
UTSW |
17 |
74,112,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Ehd3
|
UTSW |
17 |
74,112,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R5104:Ehd3
|
UTSW |
17 |
74,134,442 (GRCm39) |
missense |
probably benign |
0.44 |
R5244:Ehd3
|
UTSW |
17 |
74,136,995 (GRCm39) |
missense |
probably benign |
|
R5283:Ehd3
|
UTSW |
17 |
74,127,498 (GRCm39) |
missense |
probably benign |
|
R5339:Ehd3
|
UTSW |
17 |
74,135,202 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5966:Ehd3
|
UTSW |
17 |
74,134,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R5966:Ehd3
|
UTSW |
17 |
74,134,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R6255:Ehd3
|
UTSW |
17 |
74,112,408 (GRCm39) |
missense |
probably benign |
0.17 |
R6906:Ehd3
|
UTSW |
17 |
74,137,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Ehd3
|
UTSW |
17 |
74,137,179 (GRCm39) |
missense |
probably benign |
0.17 |
R7368:Ehd3
|
UTSW |
17 |
74,134,457 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7410:Ehd3
|
UTSW |
17 |
74,112,428 (GRCm39) |
missense |
probably benign |
0.04 |
R7891:Ehd3
|
UTSW |
17 |
74,123,387 (GRCm39) |
missense |
probably benign |
0.19 |
R8848:Ehd3
|
UTSW |
17 |
74,136,911 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9161:Ehd3
|
UTSW |
17 |
74,134,480 (GRCm39) |
nonsense |
probably null |
|
R9258:Ehd3
|
UTSW |
17 |
74,127,561 (GRCm39) |
missense |
probably benign |
|
R9347:Ehd3
|
UTSW |
17 |
74,137,391 (GRCm39) |
missense |
probably benign |
0.12 |
R9564:Ehd3
|
UTSW |
17 |
74,137,361 (GRCm39) |
missense |
probably benign |
0.06 |
Z1176:Ehd3
|
UTSW |
17 |
74,112,280 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ehd3
|
UTSW |
17 |
74,137,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |