Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:Ehd1'

559139

Institutional Source

Beutler Lab

Gene Symbol

Ehd1

Ensembl Gene

ENSMUSG00000024772

Gene Name

EH-domain containing 1

Synonyms

RME-1, Past1

MMRRC Submission

045235-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6326926-6350126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6347684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 346 (H346R)

Ref Sequence

ENSEMBL: ENSMUSP00000025684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025684]

AlphaFold

Q9WVK4

Predicted Effect

probably benign
Transcript: ENSMUST00000025684
AA Change: H346R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: H346R

Domain	Start	End	E-Value	Type
Pfam:EHD_N	24	56	1.2e-19	PFAM
Pfam:MMR_HSR1	60	220	5.1e-9	PFAM
Pfam:Dynamin_N	61	221	6.6e-15	PFAM
low complexity region	420	433	N/A	INTRINSIC
EH	438	531	1.82e-45	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,706 (GRCm39)	M816L	possibly damaging	Het
Ahnak	T	C	19: 8,995,032 (GRCm39)	F5439L	probably damaging	Het
Apba2	G	A	7: 64,383,293 (GRCm39)	D369N	probably benign	Het
Arhgap32	A	G	9: 32,097,679 (GRCm39)	N228D	probably benign	Het
Arhgap33	T	A	7: 30,225,296 (GRCm39)		probably null	Het
Cacna1g	C	T	11: 94,330,563 (GRCm39)	C984Y	probably benign	Het
Cadm2	C	A	16: 66,679,720 (GRCm39)	G47*	probably null	Het
Ccdc125	A	G	13: 100,826,866 (GRCm39)	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,868,620 (GRCm39)	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc42bpg	A	G	19: 6,360,827 (GRCm39)	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,795,706 (GRCm39)	R275G	probably damaging	Het
Chst4	T	C	8: 110,756,630 (GRCm39)	N411S	possibly damaging	Het
Cir1	A	G	2: 73,116,730 (GRCm39)	V210A	probably damaging	Het
Col6a1	A	G	10: 76,552,093 (GRCm39)		probably null	Het
Crmp1	C	A	5: 37,446,161 (GRCm39)	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,367,418 (GRCm39)	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,097,990 (GRCm39)	Q677L	unknown	Het
Dnah17	G	A	11: 118,020,014 (GRCm39)	T11I	probably benign	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Emc3	G	T	6: 113,508,345 (GRCm39)	Y33*	probably null	Het
Ercc5	A	T	1: 44,200,968 (GRCm39)		probably null	Het
Ercc5	G	T	1: 44,200,969 (GRCm39)		probably null	Het
Fat3	A	C	9: 15,834,133 (GRCm39)	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,312,431 (GRCm39)		probably null	Het
Gmnc	C	T	16: 26,779,279 (GRCm39)	D249N	probably benign	Het
Gsn	C	T	2: 35,184,960 (GRCm39)	A305V	probably benign	Het
Haus6	A	T	4: 86,501,989 (GRCm39)	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,558,920 (GRCm39)		probably null	Het
Hoxd9	G	T	2: 74,528,709 (GRCm39)	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,609,200 (GRCm39)	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,436 (GRCm39)	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,722,469 (GRCm39)	V386M	probably damaging	Het
Masp2	A	G	4: 148,696,614 (GRCm39)	S404G	probably benign	Het
Or5b102	A	G	19: 13,041,680 (GRCm39)	I302V	probably benign	Het
Or5m12	T	A	2: 85,734,486 (GRCm39)	Q304L	probably benign	Het
Or7g20	G	T	9: 18,946,628 (GRCm39)	D70Y	probably damaging	Het
P4htm	A	T	9: 108,459,059 (GRCm39)	M291K	possibly damaging	Het
Pde6c	T	C	19: 38,121,538 (GRCm39)	S49P	probably benign	Het
Pdzd7	A	G	19: 45,025,553 (GRCm39)	V314A	probably benign	Het
Pfkl	G	A	10: 77,837,916 (GRCm39)	R31*	probably null	Het
Phlpp2	C	A	8: 110,666,585 (GRCm39)	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 132,994,203 (GRCm39)	S56P	probably benign	Het
Plec	A	G	15: 76,089,905 (GRCm39)	V145A	unknown	Het
Prg3	G	A	2: 84,821,848 (GRCm39)	V158I	probably benign	Het
Prg3	G	T	2: 84,823,367 (GRCm39)	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,677,161 (GRCm39)	T370A	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,287,066 (GRCm39)	M578K	probably damaging	Het
Siae	G	A	9: 37,528,242 (GRCm39)	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,660,511 (GRCm39)	D1864E	probably benign	Het
Smox	T	C	2: 131,362,486 (GRCm39)	I255T	possibly damaging	Het
Spata31e2	G	A	1: 26,721,914 (GRCm39)	L1089F	probably benign	Het
Tas2r123	A	G	6: 132,824,661 (GRCm39)	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,910,378 (GRCm39)	I74F	possibly damaging	Het
Timm44	T	C	8: 4,317,311 (GRCm39)	D238G	probably damaging	Het
Tlk2	T	C	11: 105,112,185 (GRCm39)		probably null	Het
Tnc	A	G	4: 63,931,365 (GRCm39)	S782P	probably damaging	Het
Tpr	A	T	1: 150,282,302 (GRCm39)	K336N	probably damaging	Het
Uggt2	A	T	14: 119,257,049 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,440 (GRCm39)	I812N	probably damaging	Het
Vps33a	T	C	5: 123,673,278 (GRCm39)	Q436R	probably null	Het
Ywhaq	T	C	12: 21,466,870 (GRCm39)	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,665,593 (GRCm39)	S290P	probably damaging	Het

Other mutations in Ehd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ehd1	APN	19	6,348,177 (GRCm39)	missense	possibly damaging	0.86
IGL02573:Ehd1	APN	19	6,344,330 (GRCm39)	missense	probably damaging	1.00
IGL03146:Ehd1	APN	19	6,327,368 (GRCm39)	missense	probably damaging	1.00
declining	UTSW	19	6,344,418 (GRCm39)	missense	probably damaging	1.00
R1376:Ehd1	UTSW	19	6,344,418 (GRCm39)	missense	probably damaging	1.00
R1376:Ehd1	UTSW	19	6,344,418 (GRCm39)	missense	probably damaging	1.00
R1593:Ehd1	UTSW	19	6,348,330 (GRCm39)	missense
R2062:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2064:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2065:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2066:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2067:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2068:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R2217:Ehd1	UTSW	19	6,348,502 (GRCm39)	missense	probably damaging	1.00
R3436:Ehd1	UTSW	19	6,327,044 (GRCm39)	nonsense	probably null
R3705:Ehd1	UTSW	19	6,348,330 (GRCm39)	missense
R4654:Ehd1	UTSW	19	6,326,994 (GRCm39)	utr 5 prime	probably benign
R4902:Ehd1	UTSW	19	6,344,273 (GRCm39)	missense	possibly damaging	0.91
R5001:Ehd1	UTSW	19	6,347,724 (GRCm39)	missense	probably benign	0.14
R5076:Ehd1	UTSW	19	6,327,251 (GRCm39)	missense	probably benign	0.02
R6327:Ehd1	UTSW	19	6,348,375 (GRCm39)	missense	possibly damaging	0.81
R6679:Ehd1	UTSW	19	6,344,474 (GRCm39)	missense	probably benign	0.01
R7120:Ehd1	UTSW	19	6,347,591 (GRCm39)	missense	probably benign	0.00
R7215:Ehd1	UTSW	19	6,347,672 (GRCm39)	missense	possibly damaging	0.81
R7853:Ehd1	UTSW	19	6,327,225 (GRCm39)	missense	probably damaging	0.99
R8467:Ehd1	UTSW	19	6,331,318 (GRCm39)	missense	probably benign	0.24
R8523:Ehd1	UTSW	19	6,344,613 (GRCm39)	missense	probably damaging	0.98
R8879:Ehd1	UTSW	19	6,348,354 (GRCm39)	missense	probably damaging	0.97
R8957:Ehd1	UTSW	19	6,344,439 (GRCm39)	missense	probably damaging	1.00
R9011:Ehd1	UTSW	19	6,348,108 (GRCm39)	missense	probably benign	0.11
R9664:Ehd1	UTSW	19	6,331,262 (GRCm39)	missense	probably benign	0.01
R9687:Ehd1	UTSW	19	6,348,330 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GTGTTAGAGGCACCCTTTCC -3'
(R):5'- TCTCGACCTAGGTCAACTCTG -3'

Sequencing Primer
(F):5'- ACTGAGCTTGAGGCACTGG -3'
(R):5'- TCAACTCTGACTCAGATAGGGAACTG -3'

Posted On

2019-06-26