Mutagenetix > Incidental Mutation

Incidental Mutation 'R8523:Ehd1'

658695

Institutional Source

Beutler Lab

Gene Symbol

Ehd1

Ensembl Gene

ENSMUSG00000024772

Gene Name

EH-domain containing 1

Synonyms

RME-1, Past1

MMRRC Submission

067948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6326926-6350126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6344613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 291 (L291P)

Ref Sequence

ENSEMBL: ENSMUSP00000025684 (fasta)

Gene Model

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

AlphaFold

Q9WVK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025684
AA Change: L291P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025684
Gene: ENSMUSG00000024772
AA Change: L291P

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: 99.9%
10x: 99.7%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,905,152 (GRCm39)	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,709,648 (GRCm39)	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976 (GRCm39)	D129E	probably benign	Het
Arpc1b	A	G	5: 145,061,492 (GRCm39)	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,396,023 (GRCm39)	T251S	probably benign	Het
Best1	T	C	19: 9,969,027 (GRCm39)	I230V	possibly damaging	Het
Brca2	A	G	5: 150,483,613 (GRCm39)	T2888A	possibly damaging	Het
Cad	T	C	5: 31,215,450 (GRCm39)	V87A	probably damaging	Het
Ccdc168	A	T	1: 44,099,994 (GRCm39)	I368K	possibly damaging	Het
Ccdc39	C	T	3: 33,869,560 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,284,523 (GRCm39)	C548*	probably null	Het
Col18a1	A	G	10: 76,890,068 (GRCm39)	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,651,987 (GRCm39)	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,321,519 (GRCm39)	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,072,171 (GRCm39)	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,408 (GRCm39)	Y171H	unknown	Het
Eif3c	A	T	7: 126,147,069 (GRCm39)	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,502 (GRCm39)	T244S	probably benign	Het
Fam186b	T	A	15: 99,177,613 (GRCm39)	H571L	probably benign	Het
Fer1l5	A	G	1: 36,426,271 (GRCm39)	K360E	probably benign	Het
Fga	A	T	3: 82,938,158 (GRCm39)	I178F	probably damaging	Het
Gale	A	T	4: 135,694,987 (GRCm39)	T320S	probably benign	Het
Gm11232	A	T	4: 71,675,465 (GRCm39)	S99T	probably benign	Het
Gpr137	C	T	19: 6,917,803 (GRCm39)	W94*	probably null	Het
Grm7	T	A	6: 111,223,280 (GRCm39)	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,353,286 (GRCm39)	F69L	probably damaging	Het
Hdac7	T	A	15: 97,706,251 (GRCm39)	H304L	probably damaging	Het
Herc1	T	A	9: 66,358,224 (GRCm39)	I2435N	probably benign	Het
Itgb7	G	A	15: 102,124,957 (GRCm39)	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,981,946 (GRCm39)	M1I	probably null	Het
Mitd1	A	G	1: 37,918,639 (GRCm39)		probably null	Het
Myh10	A	T	11: 68,688,235 (GRCm39)	Q1232L	probably benign	Het
Myo1a	C	A	10: 127,547,027 (GRCm39)	N362K	probably damaging	Het
N4bp1	G	A	8: 87,579,789 (GRCm39)	T671I	probably damaging	Het
Nav3	A	T	10: 109,659,138 (GRCm39)	D826E	probably damaging	Het
Negr1	C	T	3: 156,866,297 (GRCm39)	T282M	probably damaging	Het
Notch1	G	A	2: 26,354,917 (GRCm39)	H1837Y	possibly damaging	Het
Or2m12	A	T	16: 19,104,851 (GRCm39)	V214E	probably benign	Het
Or52e19b	A	T	7: 103,032,413 (GRCm39)	F265L	probably benign	Het
Or5m13	T	A	2: 85,748,407 (GRCm39)	I46N	probably damaging	Het
Or7e177	A	G	9: 20,212,093 (GRCm39)	N200S	probably benign	Het
Pard6a	T	C	8: 106,428,881 (GRCm39)	C47R	probably benign	Het
Parp2	T	C	14: 51,057,247 (GRCm39)		probably null	Het
Pck1	C	A	2: 172,999,064 (GRCm39)	A410D	probably damaging	Het
Pdzph1	G	A	17: 59,191,008 (GRCm39)	L85F	probably damaging	Het
Piezo2	A	G	18: 63,279,873 (GRCm39)	S1P	probably damaging	Het
Pld1	T	A	3: 28,140,025 (GRCm39)	V615D	probably damaging	Het
Plekha7	T	G	7: 115,907,164 (GRCm39)	I23L	probably benign	Het
Prkcz	T	G	4: 155,346,968 (GRCm39)	D388A	probably damaging	Het
Rab36	A	G	10: 74,888,335 (GRCm39)	R260G	probably benign	Het
Reln	C	A	5: 22,209,229 (GRCm39)	R1116S	probably damaging	Het
Rskr	A	T	11: 78,184,210 (GRCm39)	M225L	probably benign	Het
Rundc3b	T	G	5: 8,619,505 (GRCm39)	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,316,988 (GRCm39)	S859P	probably damaging	Het
Slc25a32	C	T	15: 38,963,281 (GRCm39)	R180H	probably benign	Het
Slc4a9	G	A	18: 36,665,196 (GRCm39)	G443E	possibly damaging	Het
Slmap	T	A	14: 26,150,965 (GRCm39)	K534N	probably damaging	Het
Sncaip	G	A	18: 52,971,088 (GRCm39)	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Srrm1	A	T	4: 135,051,313 (GRCm39)	V789E	unknown	Het
Srrm2	A	T	17: 24,027,489 (GRCm39)		probably benign	Het
St7l	T	C	3: 104,775,373 (GRCm39)	F83S	probably damaging	Het
Taf15	C	T	11: 83,375,678 (GRCm39)	Q48*	probably null	Het
Tek	A	T	4: 94,687,403 (GRCm39)	D172V	probably benign	Het
Tmem232	T	C	17: 65,785,366 (GRCm39)	Y198C	probably damaging	Het
Tns3	A	T	11: 8,398,779 (GRCm39)	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,067,088 (GRCm39)	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,285,122 (GRCm39)	I66T	probably benign	Het
Ttn	T	A	2: 76,577,289 (GRCm39)	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,730,087 (GRCm39)	L911*	probably null	Het
Ube4a	A	G	9: 44,861,130 (GRCm39)	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,339,569 (GRCm39)	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,454,182 (GRCm39)	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,457,053 (GRCm39)	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,182,311 (GRCm39)	I463V	probably benign	Het
Wdr95	A	G	5: 149,497,461 (GRCm39)	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,370,669 (GRCm39)	H404L	probably damaging	Het
Zfp879	A	G	11: 50,728,757 (GRCm39)	M79T	probably benign	Het
Zmiz2	G	A	11: 6,352,441 (GRCm39)	C600Y	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
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
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'- AGCTGATGCGAGTATACGGG -3'
(R):5'- TAAAGTGATGTTGCAGCGCCC -3'

Sequencing Primer
(F):5'- AGTATACGGGGCCCTCATGTG -3'
(R):5'- TACCTTGGCCCCAGATGC -3'

Posted On

2021-01-18