Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Ehd1'

226895

Institutional Source

Beutler Lab

Gene Symbol

Ehd1

Ensembl Gene

ENSMUSG00000024772

Gene Name

EH-domain containing 1

Synonyms

RME-1, Past1

MMRRC Submission

040073-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6326926-6350126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6348108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 362 (L362P)

Ref Sequence

ENSEMBL: ENSMUSP00000025684 (fasta)

Gene Model

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

AlphaFold

Q9WVK4

Predicted Effect

probably benign
Transcript: ENSMUST00000025684
AA Change: L362P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: L362P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171203

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fance	T	C	17: 28,539,799 (GRCm39)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pdzrn3	T	C	6: 101,127,660 (GRCm39)	E1002G	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	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
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
R7183:Ehd1	UTSW	19	6,347,684 (GRCm39)	missense	probably benign	0.02
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'- AGGGATAGTGCAGTTGTGACC -3'
(R):5'- ATCATCAATGCCCTCGCCAG -3'

Sequencing Primer
(F):5'- TAGCCTGAACTGGTAGGT -3'
(R):5'- CAAAGGGCCCATTCATGGTG -3'

Posted On

2014-09-17