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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6276725-6300096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6294583 bp (GRCm38)

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: 75,730,465	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,772,099	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,819,636	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976	D129E	probably benign	Het
Arpc1b	A	G	5: 145,124,682	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,346,024	T251S	probably benign	Het
BC030499	A	T	11: 78,293,384	M225L	probably benign	Het
Best1	T	C	19: 9,991,663	I230V	possibly damaging	Het
Brca2	A	G	5: 150,560,148	T2888A	possibly damaging	Het
Cad	T	C	5: 31,058,106	V87A	probably damaging	Het
Ccdc39	C	T	3: 33,815,411		probably null	Het
Clcn1	T	A	6: 42,307,589	C548*	probably null	Het
Col18a1	A	G	10: 77,054,234	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,774,788	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,251,295	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,095,188	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,322	Y171H	unknown	Het
Eif3c	A	T	7: 126,547,897	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,356	T244S	probably benign	Het
Fam186b	T	A	15: 99,279,732	H571L	probably benign	Het
Fer1l5	A	G	1: 36,387,190	K360E	probably benign	Het
Fga	A	T	3: 83,030,851	I178F	probably damaging	Het
Gale	A	T	4: 135,967,676	T320S	probably benign	Het
Gm11232	A	T	4: 71,757,228	S99T	probably benign	Het
Gm8251	A	T	1: 44,060,834	I368K	possibly damaging	Het
Gpr137	C	T	19: 6,940,435	W94*	probably null	Het
Grm7	T	A	6: 111,246,319	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,435,049	F69L	probably damaging	Het
Hdac7	T	A	15: 97,808,370	H304L	probably damaging	Het
Herc1	T	A	9: 66,450,942	I2435N	probably benign	Het
Itgb7	G	A	15: 102,216,522	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,911,721	M1I	probably null	Het
Mitd1	A	G	1: 37,879,558		probably null	Het
Myh10	A	T	11: 68,797,409	Q1232L	probably benign	Het
Myo1a	C	A	10: 127,711,158	N362K	probably damaging	Het
N4bp1	G	A	8: 86,853,161	T671I	probably damaging	Het
Nav3	A	T	10: 109,823,277	D826E	probably damaging	Het
Negr1	C	T	3: 157,160,660	T282M	probably damaging	Het
Notch1	G	A	2: 26,464,905	H1837Y	possibly damaging	Het
Olfr1025-ps1	T	A	2: 85,918,063	I46N	probably damaging	Het
Olfr164	A	T	16: 19,286,101	V214E	probably benign	Het
Olfr603	A	T	7: 103,383,206	F265L	probably benign	Het
Olfr873	A	G	9: 20,300,797	N200S	probably benign	Het
Pard6a	T	C	8: 105,702,249	C47R	probably benign	Het
Parp2	T	C	14: 50,819,790		probably null	Het
Pck1	C	A	2: 173,157,271	A410D	probably damaging	Het
Pdzph1	G	A	17: 58,884,013	L85F	probably damaging	Het
Piezo2	A	G	18: 63,146,802	S1P	probably damaging	Het
Pld1	T	A	3: 28,085,876	V615D	probably damaging	Het
Plekha7	T	G	7: 116,307,929	I23L	probably benign	Het
Prkcz	T	G	4: 155,262,511	D388A	probably damaging	Het
Rab36	A	G	10: 75,052,503	R260G	probably benign	Het
Reln	C	A	5: 22,004,231	R1116S	probably damaging	Het
Rundc3b	T	G	5: 8,569,505	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,419,107	S859P	probably damaging	Het
Slc25a32	C	T	15: 39,099,886	R180H	probably benign	Het
Slc4a9	G	A	18: 36,532,143	G443E	possibly damaging	Het
Slmap	T	A	14: 26,429,810	K534N	probably damaging	Het
Sncaip	G	A	18: 52,838,016	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
Srrm1	A	T	4: 135,324,002	V789E	unknown	Het
Srrm2	A	T	17: 23,808,515		probably benign	Het
St7l	T	C	3: 104,868,057	F83S	probably damaging	Het
Taf15	C	T	11: 83,484,852	Q48*	probably null	Het
Tek	A	T	4: 94,799,166	D172V	probably benign	Het
Tmem232	T	C	17: 65,478,371	Y198C	probably damaging	Het
Tns3	A	T	11: 8,448,779	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,020,314	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,047,665	I66T	probably benign	Het
Ttn	T	A	2: 76,746,945	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,899,743	L911*	probably null	Het
Ube4a	A	G	9: 44,949,832	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,191,755	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,754,757	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,454,054	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,274,890	I463V	probably benign	Het
Wdr95	A	G	5: 149,573,996	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,213,325	H404L	probably damaging	Het
Zfp879	A	G	11: 50,837,930	M79T	probably benign	Het
Zmiz2	G	A	11: 6,402,441	C600Y	probably damaging	Het

Other mutations in Ehd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ehd1	APN	19	6298147	missense	possibly damaging	0.86
IGL02573:Ehd1	APN	19	6294300	missense	probably damaging	1.00
IGL03146:Ehd1	APN	19	6277338	missense	probably damaging	1.00
declining	UTSW	19	6294388	missense	probably damaging	1.00
R1376:Ehd1	UTSW	19	6294388	missense	probably damaging	1.00
R1376:Ehd1	UTSW	19	6294388	missense	probably damaging	1.00
R1593:Ehd1	UTSW	19	6298300	missense
R2062:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2064:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2065:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2066:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2067:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2068:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R2217:Ehd1	UTSW	19	6298472	missense	probably damaging	1.00
R3436:Ehd1	UTSW	19	6277014	nonsense	probably null
R3705:Ehd1	UTSW	19	6298300	missense
R4654:Ehd1	UTSW	19	6276964	utr 5 prime	probably benign
R4902:Ehd1	UTSW	19	6294243	missense	possibly damaging	0.91
R5001:Ehd1	UTSW	19	6297694	missense	probably benign	0.14
R5076:Ehd1	UTSW	19	6277221	missense	probably benign	0.02
R6327:Ehd1	UTSW	19	6298345	missense	possibly damaging	0.81
R6679:Ehd1	UTSW	19	6294444	missense	probably benign	0.01
R7120:Ehd1	UTSW	19	6297561	missense	probably benign	0.00
R7183:Ehd1	UTSW	19	6297654	missense	probably benign	0.02
R7215:Ehd1	UTSW	19	6297642	missense	possibly damaging	0.81
R7853:Ehd1	UTSW	19	6277195	missense	probably damaging	0.99
R8467:Ehd1	UTSW	19	6281288	missense	probably benign	0.24
R8879:Ehd1	UTSW	19	6298324	missense	probably damaging	0.97
R8957:Ehd1	UTSW	19	6294409	missense	probably damaging	1.00
R9011:Ehd1	UTSW	19	6298078	missense	probably benign	0.11
R9664:Ehd1	UTSW	19	6281232	missense	probably benign	0.01
R9687:Ehd1	UTSW	19	6298300	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