Incidental Mutation 'R3436:Ehd1'
| ID |
334582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehd1
|
| Ensembl Gene |
ENSMUSG00000024772 |
| Gene Name |
EH-domain containing 1 |
| Synonyms |
RME-1, Past1 |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
77 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6326926-6350126 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 6327044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 14
(E14*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025684]
|
| AlphaFold |
Q9WVK4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025684
AA Change: E14*
|
| SMART Domains |
Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: E14*
| 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
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
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 |
|
IGL02573:Ehd1
|
APN |
19 |
6,344,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATAAAGGGGCGGCTCG -3'
(R):5'- ATGACCGCGATGAAGGAGTC -3'
Sequencing Primer
(F):5'- GCTGTCGTGGTCCTCAC -3'
(R):5'- GGAAGTCCTGCTCGATCAG -3'
|
| Posted On |
2015-09-14 |
Incidental Mutation