Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Ehd3'

506076

Institutional Source

Beutler Lab

Gene Symbol

Ehd3

Ensembl Gene

ENSMUSG00000024065

Gene Name

EH-domain containing 3

Synonyms

Ehd2

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73804841-73832093 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73805413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 57 (N57K)

Ref Sequence

ENSEMBL: ENSMUSP00000024860 (fasta)

Gene Model

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

AlphaFold

Q9QXY6

Predicted Effect

probably benign
Transcript: ENSMUST00000024860
AA Change: N57K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: N57K

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Ehd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Ehd3	APN	17	73827489	missense	probably damaging	0.99
IGL01400:Ehd3	APN	17	73828094	missense	probably benign	0.06
IGL01557:Ehd3	APN	17	73805280	missense	probably benign
IGL02214:Ehd3	APN	17	73820546	missense	probably damaging	1.00
IGL03053:Ehd3	APN	17	73805442	missense	probably damaging	0.97
IGL02796:Ehd3	UTSW	17	73816401	missense	probably damaging	1.00
R0468:Ehd3	UTSW	17	73805379	missense	probably damaging	1.00
R0557:Ehd3	UTSW	17	73829933	missense	probably benign	0.00
R1029:Ehd3	UTSW	17	73816326	missense	probably benign	0.00
R1295:Ehd3	UTSW	17	73828186	missense	probably damaging	0.97
R1386:Ehd3	UTSW	17	73820543	missense	probably damaging	1.00
R1796:Ehd3	UTSW	17	73830359	missense	probably damaging	1.00
R3821:Ehd3	UTSW	17	73827395	missense	probably benign	0.01
R4873:Ehd3	UTSW	17	73805304	missense	probably damaging	1.00
R4875:Ehd3	UTSW	17	73805304	missense	probably damaging	1.00
R5104:Ehd3	UTSW	17	73827447	missense	probably benign	0.44
R5244:Ehd3	UTSW	17	73830000	missense	probably benign
R5283:Ehd3	UTSW	17	73820503	missense	probably benign
R5339:Ehd3	UTSW	17	73828207	missense	possibly damaging	0.63
R5966:Ehd3	UTSW	17	73827361	missense	probably damaging	1.00
R5966:Ehd3	UTSW	17	73827366	missense	probably damaging	1.00
R6906:Ehd3	UTSW	17	73830338	missense	probably damaging	1.00
R7113:Ehd3	UTSW	17	73830184	missense	probably benign	0.17
R7368:Ehd3	UTSW	17	73827462	missense	possibly damaging	0.72
R7410:Ehd3	UTSW	17	73805433	missense	probably benign	0.04
R7891:Ehd3	UTSW	17	73816392	missense	probably benign	0.19
R8848:Ehd3	UTSW	17	73829916	critical splice acceptor site	probably null
R9161:Ehd3	UTSW	17	73827485	nonsense	probably null
R9258:Ehd3	UTSW	17	73820566	missense	probably benign
R9347:Ehd3	UTSW	17	73830396	missense	probably benign	0.12
Z1176:Ehd3	UTSW	17	73805285	missense	probably benign	0.01
Z1177:Ehd3	UTSW	17	73830105	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGGTAAGGCAGTAGTG -3'
(R):5'- GGGACTCGGTAGTAGGATCAAC -3'

Sequencing Primer
(F):5'- CCAGCTGTCACAATGTTCAGTTGG -3'
(R):5'- AGTAGGATCAACTTTTGAGGCCTCC -3'

Posted On

2018-02-28