Incidental Mutation 'IGL02573:Ehd1'
ID |
299099 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ehd1
|
Ensembl Gene |
ENSMUSG00000024772 |
Gene Name |
EH-domain containing 1 |
Synonyms |
RME-1, Past1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02573
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6326926-6350126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6344330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 197
(S197P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025684]
|
AlphaFold |
Q9WVK4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025684
AA Change: S197P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000025684 Gene: ENSMUSG00000024772 AA Change: S197P
Domain | Start | End | E-Value | Type |
Pfam:EHD_N
|
24 |
56 |
1.2e-19 |
PFAM |
Pfam:MMR_HSR1
|
60 |
220 |
5.1e-9 |
PFAM |
Pfam:Dynamin_N
|
61 |
221 |
6.6e-15 |
PFAM |
low complexity region
|
420 |
433 |
N/A |
INTRINSIC |
EH
|
438 |
531 |
1.82e-45 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171203
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,125,504 (GRCm39) |
|
probably null |
Het |
Mgat5b |
T |
C |
11: 116,868,540 (GRCm39) |
Y488H |
probably benign |
Het |
Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
Rbck1 |
A |
G |
2: 152,164,087 (GRCm39) |
I339T |
possibly damaging |
Het |
Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
Stxbp4 |
T |
C |
11: 90,431,095 (GRCm39) |
D405G |
probably damaging |
Het |
Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
Usp29 |
A |
T |
7: 6,965,617 (GRCm39) |
|
probably null |
Het |
Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
probably damaging |
Het |
|
Other mutations in Ehd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01109:Ehd1
|
APN |
19 |
6,348,177 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03146:Ehd1
|
APN |
19 |
6,327,368 (GRCm39) |
missense |
probably damaging |
1.00 |
declining
|
UTSW |
19 |
6,344,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Ehd1
|
UTSW |
19 |
6,344,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Ehd1
|
UTSW |
19 |
6,344,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Ehd1
|
UTSW |
19 |
6,348,330 (GRCm39) |
missense |
|
|
R2062:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2064:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2065:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2066:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2067:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2068:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R2217:Ehd1
|
UTSW |
19 |
6,348,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R3436:Ehd1
|
UTSW |
19 |
6,327,044 (GRCm39) |
nonsense |
probably null |
|
R3705:Ehd1
|
UTSW |
19 |
6,348,330 (GRCm39) |
missense |
|
|
R4654:Ehd1
|
UTSW |
19 |
6,326,994 (GRCm39) |
utr 5 prime |
probably benign |
|
R4902:Ehd1
|
UTSW |
19 |
6,344,273 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5001:Ehd1
|
UTSW |
19 |
6,347,724 (GRCm39) |
missense |
probably benign |
0.14 |
R5076:Ehd1
|
UTSW |
19 |
6,327,251 (GRCm39) |
missense |
probably benign |
0.02 |
R6327:Ehd1
|
UTSW |
19 |
6,348,375 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6679:Ehd1
|
UTSW |
19 |
6,344,474 (GRCm39) |
missense |
probably benign |
0.01 |
R7120:Ehd1
|
UTSW |
19 |
6,347,591 (GRCm39) |
missense |
probably benign |
0.00 |
R7183:Ehd1
|
UTSW |
19 |
6,347,684 (GRCm39) |
missense |
probably benign |
0.02 |
R7215:Ehd1
|
UTSW |
19 |
6,347,672 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7853:Ehd1
|
UTSW |
19 |
6,327,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R8467:Ehd1
|
UTSW |
19 |
6,331,318 (GRCm39) |
missense |
probably benign |
0.24 |
R8523:Ehd1
|
UTSW |
19 |
6,344,613 (GRCm39) |
missense |
probably damaging |
0.98 |
R8879:Ehd1
|
UTSW |
19 |
6,348,354 (GRCm39) |
missense |
probably damaging |
0.97 |
R8957:Ehd1
|
UTSW |
19 |
6,344,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R9011:Ehd1
|
UTSW |
19 |
6,348,108 (GRCm39) |
missense |
probably benign |
0.11 |
R9664:Ehd1
|
UTSW |
19 |
6,331,262 (GRCm39) |
missense |
probably benign |
0.01 |
R9687:Ehd1
|
UTSW |
19 |
6,348,330 (GRCm39) |
missense |
|
|
|
Posted On |
2015-04-16 |