Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Ehd1'

377915

Institutional Source

Beutler Lab

Gene Symbol

Ehd1

Ensembl Gene

ENSMUSG00000024772

Gene Name

EH-domain containing 1

Synonyms

RME-1, Past1

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6326926-6350126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6344273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 178 (F178L)

Ref Sequence

ENSEMBL: ENSMUSP00000025684 (fasta)

Gene Model

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

AlphaFold

Q9WVK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025684
AA Change: F178L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: F178L

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

0.8026

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly 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
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'- CCTTGAGGCAAGAAAGACCG -3'
(R):5'- GTTGATGATCTTCCCCAGGGAC -3'

Sequencing Primer
(F):5'- AAGACCGTGAGTGTGCG -3'
(R):5'- CACATGAGGGCCCCGTATACTC -3'

Posted On

2016-04-15