Incidental Mutation 'IGL00514:Ehd4'
ID |
7073 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ehd4
|
Ensembl Gene |
ENSMUSG00000027293 |
Gene Name |
EH-domain containing 4 |
Synonyms |
2210022F10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
IGL00514
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
119919958-119985028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119921694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 521
(P521S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028755]
|
AlphaFold |
Q9EQP2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028755
AA Change: P521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028755 Gene: ENSMUSG00000027293 AA Change: P521S
Domain | Start | End | E-Value | Type |
Pfam:EHD_N
|
27 |
59 |
3e-20 |
PFAM |
Pfam:MMR_HSR1
|
63 |
223 |
6.5e-7 |
PFAM |
Pfam:Dynamin_N
|
64 |
224 |
3.9e-14 |
PFAM |
EH
|
441 |
534 |
1.55e-39 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
Yes1 |
A |
C |
5: 32,812,473 (GRCm39) |
K248Q |
probably benign |
Het |
Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
Other mutations in Ehd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Ehd4
|
APN |
2 |
119,932,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00919:Ehd4
|
APN |
2 |
119,927,535 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL00964:Ehd4
|
APN |
2 |
119,958,163 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01801:Ehd4
|
APN |
2 |
119,932,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0436:Ehd4
|
UTSW |
2 |
119,932,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R1398:Ehd4
|
UTSW |
2 |
119,958,081 (GRCm39) |
missense |
probably benign |
0.07 |
R1818:Ehd4
|
UTSW |
2 |
119,932,885 (GRCm39) |
nonsense |
probably null |
|
R1927:Ehd4
|
UTSW |
2 |
119,921,973 (GRCm39) |
missense |
probably benign |
0.12 |
R3870:Ehd4
|
UTSW |
2 |
119,967,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R4178:Ehd4
|
UTSW |
2 |
119,984,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5551:Ehd4
|
UTSW |
2 |
119,958,100 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6153:Ehd4
|
UTSW |
2 |
119,932,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R6164:Ehd4
|
UTSW |
2 |
119,932,689 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6172:Ehd4
|
UTSW |
2 |
119,932,737 (GRCm39) |
nonsense |
probably null |
|
R6684:Ehd4
|
UTSW |
2 |
119,984,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Ehd4
|
UTSW |
2 |
119,927,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R7282:Ehd4
|
UTSW |
2 |
119,921,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7354:Ehd4
|
UTSW |
2 |
119,932,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Ehd4
|
UTSW |
2 |
119,921,874 (GRCm39) |
missense |
probably benign |
|
R7894:Ehd4
|
UTSW |
2 |
119,932,909 (GRCm39) |
nonsense |
probably null |
|
R8334:Ehd4
|
UTSW |
2 |
119,967,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R8901:Ehd4
|
UTSW |
2 |
119,932,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R9105:Ehd4
|
UTSW |
2 |
119,932,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Ehd4
|
UTSW |
2 |
119,967,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R9291:Ehd4
|
UTSW |
2 |
119,921,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Ehd4
|
UTSW |
2 |
119,921,708 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9508:Ehd4
|
UTSW |
2 |
119,921,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |