Mutagenetix > Incidental Mutation

Incidental Mutation 'R9160:Ehd4'

695629

Institutional Source

Beutler Lab

Gene Symbol

Ehd4

Ensembl Gene

ENSMUSG00000027293

Gene Name

EH-domain containing 4

Synonyms

2210022F10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R9160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119919958-119985028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119967440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 118 (V118A)

Ref Sequence

ENSEMBL: ENSMUSP00000028755 (fasta)

Gene Model

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

AlphaFold

Q9EQP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000028755
AA Change: V118A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028755
Gene: ENSMUSG00000027293
AA Change: V118A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	A	16: 20,379,246 (GRCm39)	R704H	possibly damaging	Het
Akap13	T	C	7: 75,385,526 (GRCm39)	F533L	possibly damaging	Het
Ank3	G	A	10: 69,838,304 (GRCm39)	V1771I	unknown	Het
Aspm	T	C	1: 139,417,862 (GRCm39)	L2911S	probably damaging	Het
Atp2b4	T	C	1: 133,660,143 (GRCm39)	I380V	probably benign	Het
C2cd3	T	A	7: 100,075,236 (GRCm39)	L739I		Het
Cacng6	T	C	7: 3,483,406 (GRCm39)	S245P	probably benign	Het
Chd5	A	G	4: 152,469,916 (GRCm39)	S1830G	probably damaging	Het
Col20a1	T	C	2: 180,641,538 (GRCm39)	M660T	probably benign	Het
Dnajc6	G	A	4: 101,470,258 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,857,962 (GRCm39)	S1451P	unknown	Het
Espl1	A	G	15: 102,206,953 (GRCm39)	D139G	probably damaging	Het
Fer1l6	G	A	15: 58,515,715 (GRCm39)	E1601K	possibly damaging	Het
Fermt3	A	T	19: 6,991,785 (GRCm39)	L142Q	probably damaging	Het
Gfral	A	T	9: 76,104,372 (GRCm39)	N213K	possibly damaging	Het
Gria4	A	G	9: 4,424,412 (GRCm39)	F818L	probably damaging	Het
H2-Eb1	A	T	17: 34,528,831 (GRCm39)	R121*	probably null	Het
Hoxd9	A	G	2: 74,529,761 (GRCm39)	D339G	unknown	Het
Hpn	G	T	7: 30,808,402 (GRCm39)	P78T	probably benign	Het
Inpp4b	T	A	8: 82,610,782 (GRCm39)	V175E	possibly damaging	Het
Itpr2	A	G	6: 146,276,099 (GRCm39)	L736P	probably damaging	Het
Klhl6	G	T	16: 19,775,772 (GRCm39)	P262Q	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mc5r	A	T	18: 68,472,205 (GRCm39)	Y188F	probably damaging	Het
Mob1b	T	C	5: 88,904,017 (GRCm39)	S218P	probably benign	Het
Mrgprb2	T	C	7: 48,201,982 (GRCm39)	I248V	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Or1e29	A	T	11: 73,667,881 (GRCm39)	S91T	probably benign	Het
Or2ah1	T	A	2: 85,653,318 (GRCm39)	M1K	probably null	Het
Or2o1	G	T	11: 49,051,261 (GRCm39)	W140L	probably damaging	Het
Or5j3	A	T	2: 86,128,330 (GRCm39)	T57S	probably benign	Het
Pcdhga8	T	A	18: 37,860,465 (GRCm39)	I507N	probably damaging	Het
Pkd1l2	T	C	8: 117,767,408 (GRCm39)	D1294G	possibly damaging	Het
Psg28	A	G	7: 18,164,640 (GRCm39)	L24P	probably damaging	Het
Ptk2	A	T	15: 73,087,933 (GRCm39)	D868E	probably benign	Het
Ptpn6	G	C	6: 124,705,135 (GRCm39)	R264G	possibly damaging	Het
Rnf10	T	A	5: 115,398,249 (GRCm39)	M95L	probably benign	Het
Rnf40	C	T	7: 127,190,993 (GRCm39)	T326I	probably damaging	Het
Rp1	G	T	1: 4,416,720 (GRCm39)	T1464K	probably benign	Het
Satb1	T	C	17: 52,047,053 (GRCm39)	E723G	probably benign	Het
Scgb3a2	T	A	18: 43,900,445 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,280 (GRCm39)		probably null	Het
Sorcs1	A	T	19: 50,213,658 (GRCm39)	C690S	probably damaging	Het
Spag16	T	A	1: 69,962,873 (GRCm39)	M340K	probably benign	Het
Stk3	A	G	15: 35,099,611 (GRCm39)	V107A	probably damaging	Het
Tlr1	T	A	5: 65,083,653 (GRCm39)	H308L	probably benign	Het
Tmx2	A	G	2: 84,503,907 (GRCm39)	F162S	probably damaging	Het
Vmn2r57	C	T	7: 41,076,159 (GRCm39)	S451N	possibly damaging	Het
Zbtb49	T	A	5: 38,363,246 (GRCm39)	I446F	probably damaging	Het
Zdhhc17	A	T	10: 110,783,189 (GRCm39)	I493N	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
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
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'- GGCTATGCTCAGTCACTTGG -3'
(R):5'- TGTCAGTGGGACCTCAGATATC -3'

Sequencing Primer
(F):5'- TGCTCAGTCACTTGGAACAG -3'
(R):5'- TTTGAGACAGGGCCTCATGTAACC -3'

Posted On

2022-01-20