Incidental Mutation 'R6679:Ehd1'
| ID |
527411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehd1
|
| Ensembl Gene |
ENSMUSG00000024772 |
| Gene Name |
EH-domain containing 1 |
| Synonyms |
RME-1, Past1 |
| MMRRC Submission |
044798-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6326926-6350126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6344474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 245
(N245D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025684]
|
| AlphaFold |
Q9WVK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025684
AA Change: N245D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: N245D
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
91% (40/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
| Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
| Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
| Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
| Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
| Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
| Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
| Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
| Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
| Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,698,574 (GRCm39) |
D257Y |
probably damaging |
Het |
| Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
| Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
| Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
| Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
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 |
|
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 |
|
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'- CAGGTTATGACTTTGCGGC -3'
(R):5'- CCGCTTGATGAGGTCATTGAG -3'
Sequencing Primer
(F):5'- CGTGTGGACCGCATCATCTTG -3'
(R):5'- CATTGAGCTTCCTGAGGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation