Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:Ehd3'

609360

Institutional Source

Beutler Lab

Gene Symbol

Ehd3

Ensembl Gene

ENSMUSG00000024065

Gene Name

EH-domain containing 3

Synonyms

Ehd2

MMRRC Submission

045943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74111836-74139088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74123387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 130 (N130S)

Ref Sequence

ENSEMBL: ENSMUSP00000024860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024860]

AlphaFold

Q9QXY6

Predicted Effect

probably benign
Transcript: ENSMUST00000024860
AA Change: N130S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: N130S

Domain	Start	End	E-Value	Type
Pfam:EHD_N	24	56	1.6e-21	PFAM
Pfam:MMR_HSR1	60	220	1.7e-8	PFAM
Pfam:Dynamin_N	61	221	1.3e-12	PFAM
low complexity region	420	433	N/A	INTRINSIC
EH	438	531	1.95e-45	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are healthy and fertile. [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
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
9930111J21Rik2	T	C	11: 48,910,543 (GRCm39)	Q630R	probably benign	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Arid3b	A	G	9: 57,717,442 (GRCm39)	C233R	probably benign	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Chpf	T	C	1: 75,451,939 (GRCm39)	H667R	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Uggt2	T	A	14: 119,280,059 (GRCm39)	E806D	probably benign	Het
Ushbp1	T	G	8: 71,841,422 (GRCm39)	Q469P	possibly damaging	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	Het

Other mutations in Ehd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Ehd3	APN	17	74,134,484 (GRCm39)	missense	probably damaging	0.99
IGL01400:Ehd3	APN	17	74,135,089 (GRCm39)	missense	probably benign	0.06
IGL01557:Ehd3	APN	17	74,112,275 (GRCm39)	missense	probably benign
IGL02214:Ehd3	APN	17	74,127,541 (GRCm39)	missense	probably damaging	1.00
IGL03053:Ehd3	APN	17	74,112,437 (GRCm39)	missense	probably damaging	0.97
IGL02796:Ehd3	UTSW	17	74,123,396 (GRCm39)	missense	probably damaging	1.00
R0468:Ehd3	UTSW	17	74,112,374 (GRCm39)	missense	probably damaging	1.00
R0557:Ehd3	UTSW	17	74,136,928 (GRCm39)	missense	probably benign	0.00
R1029:Ehd3	UTSW	17	74,123,321 (GRCm39)	missense	probably benign	0.00
R1295:Ehd3	UTSW	17	74,135,181 (GRCm39)	missense	probably damaging	0.97
R1386:Ehd3	UTSW	17	74,127,538 (GRCm39)	missense	probably damaging	1.00
R1796:Ehd3	UTSW	17	74,137,354 (GRCm39)	missense	probably damaging	1.00
R3821:Ehd3	UTSW	17	74,134,390 (GRCm39)	missense	probably benign	0.01
R4873:Ehd3	UTSW	17	74,112,299 (GRCm39)	missense	probably damaging	1.00
R4875:Ehd3	UTSW	17	74,112,299 (GRCm39)	missense	probably damaging	1.00
R5104:Ehd3	UTSW	17	74,134,442 (GRCm39)	missense	probably benign	0.44
R5244:Ehd3	UTSW	17	74,136,995 (GRCm39)	missense	probably benign
R5283:Ehd3	UTSW	17	74,127,498 (GRCm39)	missense	probably benign
R5339:Ehd3	UTSW	17	74,135,202 (GRCm39)	missense	possibly damaging	0.63
R5966:Ehd3	UTSW	17	74,134,361 (GRCm39)	missense	probably damaging	1.00
R5966:Ehd3	UTSW	17	74,134,356 (GRCm39)	missense	probably damaging	1.00
R6255:Ehd3	UTSW	17	74,112,408 (GRCm39)	missense	probably benign	0.17
R6906:Ehd3	UTSW	17	74,137,333 (GRCm39)	missense	probably damaging	1.00
R7113:Ehd3	UTSW	17	74,137,179 (GRCm39)	missense	probably benign	0.17
R7368:Ehd3	UTSW	17	74,134,457 (GRCm39)	missense	possibly damaging	0.72
R7410:Ehd3	UTSW	17	74,112,428 (GRCm39)	missense	probably benign	0.04
R8848:Ehd3	UTSW	17	74,136,911 (GRCm39)	critical splice acceptor site	probably null
R9161:Ehd3	UTSW	17	74,134,480 (GRCm39)	nonsense	probably null
R9258:Ehd3	UTSW	17	74,127,561 (GRCm39)	missense	probably benign
R9347:Ehd3	UTSW	17	74,137,391 (GRCm39)	missense	probably benign	0.12
R9564:Ehd3	UTSW	17	74,137,361 (GRCm39)	missense	probably benign	0.06
Z1176:Ehd3	UTSW	17	74,112,280 (GRCm39)	missense	probably benign	0.01
Z1177:Ehd3	UTSW	17	74,137,100 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACCCAAGTATGACCAGCTGTG -3'
(R):5'- TCAGTTACACTCAGGCACCAG -3'

Sequencing Primer
(F):5'- CCCAAGTATGACCAGCTGTGTAGTAG -3'
(R):5'- GCACCAGTCAAGAAGCTGGTAC -3'

Posted On

2019-12-20