Incidental Mutation 'R4178:Ehd4'
| ID |
319580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehd4
|
| Ensembl Gene |
ENSMUSG00000027293 |
| Gene Name |
EH-domain containing 4 |
| Synonyms |
2210022F10Rik |
| MMRRC Submission |
040864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R4178 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119919958-119985028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119984829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 43
(Y43F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028755]
|
| AlphaFold |
Q9EQP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028755
AA Change: Y43F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028755
Gene: ENSMUSG00000027293
AA Change: Y43F
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
A |
G |
14: 33,776,928 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,770,679 (GRCm39) |
V410E |
probably damaging |
Het |
| C6 |
G |
A |
15: 4,764,621 (GRCm39) |
V106I |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,804,896 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,272,216 (GRCm39) |
L1323Q |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,328,490 (GRCm39) |
I90T |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,477 (GRCm39) |
Y662C |
probably benign |
Het |
| Fkbp14 |
A |
G |
6: 54,566,299 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Iqcd |
C |
A |
5: 120,740,476 (GRCm39) |
T269K |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,668,972 (GRCm39) |
C249* |
probably null |
Het |
| Kcnab2 |
T |
C |
4: 152,489,058 (GRCm39) |
R109G |
probably null |
Het |
| Obox7 |
A |
G |
7: 14,398,032 (GRCm39) |
Q24R |
probably damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,031 (GRCm39) |
Q24K |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,565 (GRCm39) |
N155D |
probably damaging |
Het |
| Or5p68 |
G |
A |
7: 107,945,765 (GRCm39) |
T141I |
probably benign |
Het |
| Or8g18 |
A |
C |
9: 39,149,375 (GRCm39) |
L115* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,191,688 (GRCm39) |
S1049P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,004,848 (GRCm39) |
F409I |
possibly damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,120,725 (GRCm39) |
Y338C |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,445,787 (GRCm39) |
E588G |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,873,666 (GRCm39) |
R63G |
probably damaging |
Het |
| Zfp775 |
A |
G |
6: 48,590,187 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,966,940 (GRCm39) |
C1010R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCGGAGTGTAACCTGAG -3'
(R):5'- CGCTGCTGAATAATGAGCGC -3'
Sequencing Primer
(F):5'- CGGAGTGTAACCTGAGGGCAG -3'
(R):5'- ACGCAGCGGCTGATGATTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation