Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Ehd1'

395795

Institutional Source

Beutler Lab

Gene Symbol

Ehd1

Ensembl Gene

ENSMUSG00000024772

Gene Name

EH-domain containing 1

Synonyms

RME-1, Past1

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5076 (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 6327251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 83 (F83L)

Ref Sequence

ENSEMBL: ENSMUSP00000025684 (fasta)

Gene Model

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

AlphaFold

Q9WVK4

Predicted Effect

probably benign
Transcript: ENSMUST00000025684
AA Change: F83L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: F83L

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: ENSMUST00000146751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165797

Meta Mutation Damage Score

0.2054

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,963,559 (GRCm39)	I72V	probably benign	Het
Aadacl3	G	A	4: 144,182,640 (GRCm39)	P276L	possibly damaging	Het
Acp6	T	A	3: 97,075,305 (GRCm39)	S180T	probably benign	Het
Adgrd1	A	T	5: 129,221,053 (GRCm39)	R449*	probably null	Het
Ak1	T	C	2: 32,523,460 (GRCm39)	V176A	probably damaging	Het
Capzb	A	T	4: 139,015,125 (GRCm39)	D226V	possibly damaging	Het
Cd34	A	T	1: 194,630,338 (GRCm39)		probably benign	Het
Cdh15	C	A	8: 123,591,087 (GRCm39)	D445E	possibly damaging	Het
Chil4	A	G	3: 106,109,913 (GRCm39)	F367L	probably damaging	Het
Clstn2	T	C	9: 97,365,132 (GRCm39)	Y458C	probably damaging	Het
Cplane2	A	G	4: 140,944,696 (GRCm39)	I82M	probably benign	Het
Ctsw	T	C	19: 5,518,486 (GRCm39)	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,706,255 (GRCm39)	D50G	probably benign	Het
Dnah14	A	G	1: 181,584,799 (GRCm39)	K3177E	probably benign	Het
Eif5a2	G	A	3: 28,836,886 (GRCm39)	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,751,238 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,975,066 (GRCm39)	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984 (GRCm39)	G493D	probably damaging	Het
Gm11596	C	T	11: 99,683,698 (GRCm39)	G141R	unknown	Het
Gpi-ps	T	G	8: 5,690,130 (GRCm39)		noncoding transcript	Het
H2-Q4	T	C	17: 35,599,417 (GRCm39)	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,382,490 (GRCm39)		probably null	Het
Kif2c	A	T	4: 117,032,066 (GRCm39)		probably benign	Het
Klrb1-ps1	C	T	6: 129,096,751 (GRCm39)		noncoding transcript	Het
Krtap9-5	A	T	11: 99,840,294 (GRCm39)	T332S	unknown	Het
Lrrc39	A	T	3: 116,373,189 (GRCm39)	E283V	probably benign	Het
Mdga1	A	G	17: 30,069,528 (GRCm39)	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,202,710 (GRCm39)	V425M	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,442,772 (GRCm39)	Y280*	probably null	Het
Muc3a	T	A	5: 137,244,997 (GRCm39)	T159S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,642 (GRCm39)	I295F	probably damaging	Het
Or4a79	T	A	2: 89,551,745 (GRCm39)	T237S	probably damaging	Het
Or4f6	A	T	2: 111,838,937 (GRCm39)	M198K	probably damaging	Het
Pcdhga4	G	A	18: 37,818,648 (GRCm39)	V66I	probably benign	Het
Pdhx	T	C	2: 102,871,422 (GRCm39)	T203A	probably damaging	Het
Pdss1	A	G	2: 22,789,929 (GRCm39)		probably null	Het
Pdxk	G	T	10: 78,286,141 (GRCm39)	Q103K	probably benign	Het
Peg3	A	G	7: 6,711,419 (GRCm39)	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,187,093 (GRCm39)	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990 (GRCm39)		probably benign	Het
Poc1b	C	T	10: 98,943,703 (GRCm39)	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,060,001 (GRCm39)	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,680 (GRCm39)	F189S	probably damaging	Het
Rbks	T	A	5: 31,807,795 (GRCm39)	Y99*	probably null	Het
Sh3rf2	G	T	18: 42,186,989 (GRCm39)	C36F	probably damaging	Het
Spock3	T	A	8: 63,798,889 (GRCm39)	N303K	probably damaging	Het
Tasor2	C	T	13: 3,626,357 (GRCm39)	V1198I	probably benign	Het
Tcaf2	T	C	6: 42,606,401 (GRCm39)	T518A	probably benign	Het
Tmem163	A	T	1: 127,428,013 (GRCm39)	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,097,094 (GRCm39)	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,199,280 (GRCm39)		noncoding transcript	Het
Unc5d	C	T	8: 29,184,704 (GRCm39)	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 25,966,346 (GRCm39)	M31L	probably benign	Het
Vrtn	C	A	12: 84,696,248 (GRCm39)	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,298,008 (GRCm39)	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,602,421 (GRCm39)	R458H	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
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'- TCTCCGGCATCATGTTCAG -3'
(R):5'- TTAGTGGGACGCAGCAAAGC -3'

Sequencing Primer
(F):5'- CGGCATCATGTTCAGCTGGG -3'
(R):5'- CGGAGGCCTTTGGTATCCTC -3'

Posted On

2016-06-21