Incidental Mutation 'IGL03146:Ehd1'
| ID |
410932 |
| 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 # |
IGL03146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6326926-6350126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6327368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 122
(F122L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025684]
|
| AlphaFold |
Q9WVK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025684
AA Change: F122L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: F122L
| 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: ENSMUST00000146751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165797
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,294,519 (GRCm39) |
D360G |
probably damaging |
Het |
| Adam6a |
A |
T |
12: 113,509,144 (GRCm39) |
T506S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,863 (GRCm39) |
V224A |
probably damaging |
Het |
| Arhgef12 |
G |
T |
9: 42,885,866 (GRCm39) |
D1251E |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Ccdc85c |
G |
A |
12: 108,173,395 (GRCm39) |
R387* |
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,456,216 (GRCm39) |
I493F |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,586,035 (GRCm39) |
I176T |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,234,112 (GRCm39) |
V572L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,744,873 (GRCm39) |
N1374I |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,350,134 (GRCm39) |
M273K |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,061 (GRCm39) |
E414G |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,170,074 (GRCm39) |
|
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,631 (GRCm39) |
E312G |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,214,399 (GRCm39) |
R132C |
probably damaging |
Het |
| Inpp4b |
A |
T |
8: 82,470,410 (GRCm39) |
I35F |
possibly damaging |
Het |
| Izumo3 |
T |
G |
4: 92,033,276 (GRCm39) |
I107L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,660,681 (GRCm39) |
Q484K |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,828,955 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,874,163 (GRCm39) |
N1735S |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,402 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,488 (GRCm39) |
M187K |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,130,630 (GRCm39) |
L374P |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,678,823 (GRCm39) |
Q382* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,821,714 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,198,122 (GRCm39) |
V146A |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,164,032 (GRCm39) |
A900V |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,099,312 (GRCm39) |
D130V |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,793,457 (GRCm39) |
R1344L |
probably benign |
Het |
| Scgb1b12 |
C |
A |
7: 32,033,969 (GRCm39) |
D76E |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,311,585 (GRCm39) |
E633D |
probably benign |
Het |
| Slc1a7 |
T |
A |
4: 107,850,189 (GRCm39) |
I100N |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,859,678 (GRCm39) |
K64E |
possibly damaging |
Het |
| Spmip4 |
A |
T |
6: 50,550,853 (GRCm39) |
V532E |
probably damaging |
Het |
| Stil |
C |
A |
4: 114,881,612 (GRCm39) |
Q719K |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,070,562 (GRCm39) |
L265Q |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,246 (GRCm39) |
E169G |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,504,174 (GRCm39) |
L101P |
probably damaging |
Het |
| Trgv3 |
C |
A |
13: 19,427,337 (GRCm39) |
Y73* |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,330,846 (GRCm39) |
Q458* |
probably null |
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 |
|
IGL02573:Ehd1
|
APN |
19 |
6,344,330 (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 |
2016-08-02 |
Incidental Mutation