Incidental Mutation 'IGL00964:Ehd4'
| ID |
26977 |
| 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 # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119919958-119985028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119958163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 141
(C141R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028755]
|
| AlphaFold |
Q9EQP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028755
AA Change: C141R
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028755
Gene: ENSMUSG00000027293
AA Change: C141R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152366
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,228 (GRCm39) |
D144G |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,800,765 (GRCm39) |
|
probably null |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,421,518 (GRCm39) |
T124S |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slamf6 |
T |
A |
1: 171,745,347 (GRCm39) |
C25S |
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,703,190 (GRCm39) |
R79S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
probably damaging |
Het |
|
| Other mutations in Ehd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Ehd4
|
APN |
2 |
119,921,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation