Mutagenetix > Incidental Mutation

Incidental Mutation 'R0436:Ehd4'

38993

Institutional Source

Beutler Lab

Gene Symbol

Ehd4

Ensembl Gene

ENSMUSG00000027293

Gene Name

EH-domain containing 4

Synonyms

2210022F10Rik

MMRRC Submission

038637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R0436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119919958-119985028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119932822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 201 (D201E)

Ref Sequence

ENSEMBL: ENSMUSP00000028755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028755]

AlphaFold

Q9EQP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000028755
AA Change: D201E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028755
Gene: ENSMUSG00000027293
AA Change: D201E

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: ENSMUST00000150240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152366

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,682 (GRCm39)		probably benign	Het
Abcb10	C	T	8: 124,697,740 (GRCm39)	G195S	probably benign	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Alx4	A	T	2: 93,498,702 (GRCm39)	K145*	probably null	Het
Arl8a	G	A	1: 135,074,718 (GRCm39)	M1I	probably null	Het
Btbd16	G	A	7: 130,387,783 (GRCm39)	S134N	probably benign	Het
Ccdc136	T	A	6: 29,414,933 (GRCm39)	L474Q	probably damaging	Het
Cebpz	A	G	17: 79,243,079 (GRCm39)	Y192H	probably benign	Het
Cep95	A	G	11: 106,709,511 (GRCm39)	Q109R	probably null	Het
Cfap54	G	T	10: 92,874,837 (GRCm39)	Q520K	possibly damaging	Het
Cog2	C	T	8: 125,275,253 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,500,707 (GRCm39)	N702S	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmxl2	T	C	9: 54,291,034 (GRCm39)	D2472G	probably damaging	Het
Drgx	T	C	14: 32,330,040 (GRCm39)	F81S	probably damaging	Het
Ect2	A	G	3: 27,204,244 (GRCm39)	F22L	probably benign	Het
Eif4ebp3	A	G	18: 36,797,354 (GRCm39)		probably null	Het
Exd2	T	C	12: 80,537,544 (GRCm39)		probably benign	Het
Gtf2a1	A	C	12: 91,535,047 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,378,630 (GRCm39)	Y256C	probably damaging	Het
Haus6	T	C	4: 86,504,044 (GRCm39)	R527G	probably benign	Het
Helb	C	T	10: 119,930,117 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hk1	A	T	10: 62,135,054 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,295,624 (GRCm39)	K2611R	probably damaging	Het
Hrc	A	G	7: 44,985,557 (GRCm39)	H236R	possibly damaging	Het
Hunk	T	A	16: 90,261,042 (GRCm39)	Y178N	probably damaging	Het
Iftap	T	C	2: 101,440,864 (GRCm39)		probably benign	Het
Jakmip2	G	A	18: 43,691,234 (GRCm39)	Q616*	probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Msantd4	C	T	9: 4,385,180 (GRCm39)	R302C	probably damaging	Het
Nae1	T	C	8: 105,249,868 (GRCm39)		probably benign	Het
Nek4	C	T	14: 30,692,429 (GRCm39)	L293F	probably damaging	Het
Odf2l	C	T	3: 144,831,877 (GRCm39)	T44I	possibly damaging	Het
Or52s19	A	G	7: 103,007,948 (GRCm39)	V151A	possibly damaging	Het
Otog	G	A	7: 45,915,360 (GRCm39)		probably benign	Het
Ppp1r21	C	T	17: 88,873,117 (GRCm39)	T425I	possibly damaging	Het
Prrc2b	A	G	2: 32,120,672 (GRCm39)	E2204G	probably damaging	Het
Prrc2c	A	C	1: 162,532,883 (GRCm39)		probably benign	Het
Ptgs2	T	C	1: 149,980,028 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,371,455 (GRCm39)	V197E	probably damaging	Het
Syne3	A	G	12: 104,913,183 (GRCm39)	W593R	possibly damaging	Het
Tmem63a	A	T	1: 180,800,298 (GRCm39)	T696S	probably benign	Het
Tnks2	A	G	19: 36,826,758 (GRCm39)	D165G	possibly damaging	Het
Trim43a	T	C	9: 88,470,240 (GRCm39)	W349R	probably damaging	Het
Unc45b	T	C	11: 82,820,393 (GRCm39)		probably benign	Het
Vmn1r4	T	A	6: 56,933,947 (GRCm39)	N150K	probably damaging	Het
Wdfy4	C	A	14: 32,805,769 (GRCm39)		probably benign	Het
Wdr77	T	A	3: 105,867,342 (GRCm39)	D63E	probably damaging	Het
Zan	T	C	5: 137,463,164 (GRCm39)	T672A	unknown	Het
Zdhhc17	A	T	10: 110,817,851 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGTGTTGATGACCTTGCCC -3'
(R):5'- CATTGTGCCACCTATCCAAGACCTG -3'

Sequencing Primer
(F):5'- TTGATGACCTTGCCCAGAGAC -3'
(R):5'- CTATCCAAGACCTGTGCTGG -3'

Posted On

2013-05-23