Incidental Mutation 'R6327:Ehd1'
| ID |
510495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehd1
|
| Ensembl Gene |
ENSMUSG00000024772 |
| Gene Name |
EH-domain containing 1 |
| Synonyms |
RME-1, Past1 |
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6326926-6350126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6348375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 451
(I451T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025684]
|
| AlphaFold |
Q9WVK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025684
AA Change: I451T
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: I451T
| 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
|
| Meta Mutation Damage Score |
0.3267 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
| Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
| Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
| Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
| Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly 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 |
|
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'- CAAGTTCCAGGCCTTGAAGC -3'
(R):5'- CCTTGATAAGGTGGTTGGCC -3'
Sequencing Primer
(F):5'- TATGCTGGCCAACGATATAGCTCG -3'
(R):5'- TTGGCCAGGGCAAACTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation