Incidental Mutation 'IGL02214:Ehd3'
ID |
284798 |
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 # |
IGL02214
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
74111836-74139088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74127541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 158
(L158H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024860]
|
AlphaFold |
Q9QXY6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024860
AA Change: L158H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024860 Gene: ENSMUSG00000024065 AA Change: L158H
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 |
9430097D07Rik |
T |
C |
2: 32,464,736 (GRCm39) |
|
probably benign |
Het |
A330008L17Rik |
T |
A |
8: 100,148,390 (GRCm39) |
|
noncoding transcript |
Het |
A930004D18Rik |
A |
G |
2: 18,032,067 (GRCm39) |
L17P |
unknown |
Het |
Abca14 |
A |
T |
7: 119,893,398 (GRCm39) |
M1283L |
probably benign |
Het |
Adarb1 |
A |
T |
10: 77,158,135 (GRCm39) |
V104E |
probably damaging |
Het |
Ano1 |
T |
A |
7: 144,209,445 (GRCm39) |
N252Y |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,930,666 (GRCm39) |
S498G |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,178,043 (GRCm39) |
V1942A |
probably benign |
Het |
Carf |
T |
A |
1: 60,187,240 (GRCm39) |
D579E |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,623,412 (GRCm39) |
S200R |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,021,805 (GRCm39) |
S113G |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Etfa |
C |
A |
9: 55,372,095 (GRCm39) |
G289W |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 105,469,435 (GRCm39) |
T1029I |
probably benign |
Het |
Gipr |
C |
A |
7: 18,891,471 (GRCm39) |
G402V |
possibly damaging |
Het |
Hacd1 |
C |
T |
2: 14,031,758 (GRCm39) |
V242M |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,474,978 (GRCm39) |
L520P |
probably damaging |
Het |
Ibtk |
A |
T |
9: 85,596,232 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
A |
C |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,184,939 (GRCm39) |
Y407F |
possibly damaging |
Het |
Mansc1 |
C |
T |
6: 134,587,323 (GRCm39) |
V285M |
probably benign |
Het |
Mindy4 |
A |
G |
6: 55,193,636 (GRCm39) |
R110G |
possibly damaging |
Het |
Morn1 |
C |
T |
4: 155,176,776 (GRCm39) |
H100Y |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,567 (GRCm39) |
S165T |
probably damaging |
Het |
Or13a24 |
A |
T |
7: 140,154,470 (GRCm39) |
R135* |
probably null |
Het |
Or5aq1 |
T |
G |
2: 86,965,849 (GRCm39) |
K272T |
probably damaging |
Het |
Prx |
G |
T |
7: 27,218,337 (GRCm39) |
R946M |
probably damaging |
Het |
Ptchd1 |
A |
G |
X: 154,356,706 (GRCm39) |
V833A |
possibly damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,163 (GRCm39) |
D481G |
probably benign |
Het |
Serpinb3a |
A |
G |
1: 106,976,218 (GRCm39) |
|
probably null |
Het |
Shtn1 |
T |
C |
19: 58,988,318 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,668,911 (GRCm39) |
D507V |
possibly damaging |
Het |
Sult1b1 |
C |
T |
5: 87,682,949 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,923,106 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
C |
T |
15: 72,884,731 (GRCm39) |
W416* |
probably null |
Het |
Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,189,138 (GRCm39) |
|
probably null |
Het |
Vmn2r76 |
A |
C |
7: 85,879,138 (GRCm39) |
F387L |
probably benign |
Het |
Vps8 |
G |
A |
16: 21,336,035 (GRCm39) |
C729Y |
probably damaging |
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 |
|
IGL03053:Ehd3
|
APN |
17 |
74,112,437 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2015-04-16 |