Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Ehd3'

571965

Institutional Source

Beutler Lab

Gene Symbol

Ehd3

Ensembl Gene

ENSMUSG00000024065

Gene Name

EH-domain containing 3

Synonyms

Ehd2

MMRRC Submission

045452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74111836-74139088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74134457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

Ref Sequence

ENSEMBL: ENSMUSP00000024860 (fasta)

Gene Model

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

AlphaFold

Q9QXY6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024860
AA Change: E272G

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: E272G

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,659,639 (GRCm39)	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,094,765 (GRCm39)	V564I	probably damaging	Het
Apol9b	T	C	15: 77,620,134 (GRCm39)	I310T	possibly damaging	Het
Arhgef28	C	A	13: 98,133,370 (GRCm39)	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,254,773 (GRCm39)	T199I	possibly damaging	Het
Carmil2	C	T	8: 106,417,467 (GRCm39)	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,386,691 (GRCm39)	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,989 (GRCm39)	S239T	probably damaging	Het
Cyrib	A	T	15: 63,810,507 (GRCm39)		probably null	Het
Ddit3	G	A	10: 127,131,776 (GRCm39)	G108D	probably damaging	Het
Dnah3	T	C	7: 119,628,239 (GRCm39)	I1473V	probably benign	Het
Dscam	A	G	16: 96,445,131 (GRCm39)	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 106,615,037 (GRCm39)		probably benign	Het
Ednrb	T	A	14: 104,057,453 (GRCm39)	I370F	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fkbp11	T	C	15: 98,622,307 (GRCm39)	K189E	unknown	Het
Frem1	T	A	4: 82,884,381 (GRCm39)	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,867,390 (GRCm39)	Y76*	probably null	Het
Gm11437	T	A	11: 84,058,298 (GRCm39)		probably benign	Het
Gm8947	C	A	1: 151,068,847 (GRCm39)	Q227K	probably benign	Het
Gm9195	A	G	14: 72,717,496 (GRCm39)	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,430,655 (GRCm39)	I42T	probably benign	Het
Hdac5	A	T	11: 102,088,207 (GRCm39)	V939E	probably null	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kitl	A	T	10: 99,851,943 (GRCm39)	I21F	probably benign	Het
Krt1	T	C	15: 101,755,307 (GRCm39)	D484G	probably damaging	Het
Larp1	C	A	11: 57,938,904 (GRCm39)	P527T	probably damaging	Het
Lrp5	A	G	19: 3,670,085 (GRCm39)	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,318 (GRCm39)	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	G	T	11: 60,381,741 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,424,384 (GRCm39)	K26E	possibly damaging	Het
Nek1	T	A	8: 61,542,741 (GRCm39)	I777N	probably benign	Het
Nlrc5	C	T	8: 95,203,021 (GRCm39)	R374*	probably null	Het
Nol8	T	C	13: 49,814,695 (GRCm39)	S268P	probably benign	Het
Nynrin	T	A	14: 56,107,968 (GRCm39)	L1025Q	probably damaging	Het
Or8h9	A	G	2: 86,789,602 (GRCm39)	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,325,078 (GRCm39)	L140H	probably damaging	Het
Pcnt	T	C	10: 76,235,835 (GRCm39)	N1382S	probably benign	Het
Pef1	T	A	4: 130,021,178 (GRCm39)	L244*	probably null	Het
Phf11a	T	C	14: 59,518,174 (GRCm39)	E191G	probably benign	Het
Polr3a	A	T	14: 24,517,144 (GRCm39)	D702E	probably damaging	Het
Ptch1	C	T	13: 63,659,798 (GRCm39)	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993 (GRCm39)	D566G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,033,992 (GRCm39)	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,067,685 (GRCm39)	D618E	possibly damaging	Het
Slc35f5	T	A	1: 125,512,256 (GRCm39)	V352E	probably damaging	Het
Sppl2c	A	G	11: 104,078,430 (GRCm39)	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stra6	G	A	9: 58,058,543 (GRCm39)	R468Q	probably benign	Het
Taf3	T	C	2: 9,921,188 (GRCm39)	H924R	unknown	Het
Tbx18	C	A	9: 87,612,750 (GRCm39)	V50L	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Unc45b	C	T	11: 82,833,321 (GRCm39)	T845I	probably benign	Het
Usp15	T	C	10: 123,032,798 (GRCm39)	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,821,355 (GRCm39)	D1288E	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het
Zfp638	A	G	6: 83,906,437 (GRCm39)	N201D	possibly damaging	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
R7410:Ehd3	UTSW	17	74,112,428 (GRCm39)	missense	probably benign	0.04
R7891:Ehd3	UTSW	17	74,123,387 (GRCm39)	missense	probably benign	0.19
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'- GCGCGTAGTGTTGAACAAAG -3'
(R):5'- TGGCCATCTAATTCAGAGCC -3'

Sequencing Primer
(F):5'- TGTTGAACAAAGCTGACCAGATC -3'
(R):5'- TCTAATTCAGAGCCAGCAACC -3'

Posted On

2019-09-13