Mutagenetix > Incidental Mutation

Incidental Mutation 'R8848:Ehd3'

674856

Institutional Source

Beutler Lab

Gene Symbol

Ehd3

Ensembl Gene

ENSMUSG00000024065

Gene Name

EH-domain containing 3

Synonyms

Ehd2

MMRRC Submission

068671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74111836-74139088 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 74136911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024860 (fasta)

Gene Model

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

AlphaFold

Q9QXY6

Predicted Effect

probably null
Transcript: ENSMUST00000024860

SMART Domains

Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065

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

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,106 (GRCm39)	D46G	probably benign	Het
Abcc8	A	T	7: 45,766,769 (GRCm39)	W1004R	possibly damaging	Het
Acbd3	T	A	1: 180,562,084 (GRCm39)		probably null	Het
Adh1	G	T	3: 137,986,262 (GRCm39)	C83F	probably benign	Het
Arhgef18	T	C	8: 3,477,481 (GRCm39)	V20A	probably benign	Het
Bmal1	T	C	7: 112,905,327 (GRCm39)	I506T	possibly damaging	Het
Brf2	T	C	8: 27,616,140 (GRCm39)	I82V	probably benign	Het
C7	A	G	15: 5,088,911 (GRCm39)	V10A	probably damaging	Het
Cacna1d	C	T	14: 29,845,283 (GRCm39)	V651M	possibly damaging	Het
Cacna2d2	T	C	9: 107,391,855 (GRCm39)	I458T	possibly damaging	Het
Cadps2	C	A	6: 23,344,256 (GRCm39)	W897L	probably damaging	Het
Cdhr1	T	A	14: 36,802,531 (GRCm39)	N644I	probably benign	Het
Cox7c	A	T	13: 86,193,900 (GRCm39)	I55K	possibly damaging	Het
Cox8c	T	A	12: 102,865,577 (GRCm39)		probably benign	Het
Cyp2c40	G	A	19: 39,801,244 (GRCm39)	R4C	unknown	Het
Eif2b4	A	T	5: 31,348,210 (GRCm39)	C227S	probably damaging	Het
Erlec1	T	C	11: 30,898,411 (GRCm39)	Y213C	probably damaging	Het
F11	G	T	8: 45,695,281 (GRCm39)	Y562*	probably null	Het
Fam186a	A	G	15: 99,838,034 (GRCm39)	S2737P	possibly damaging	Het
Fat3	T	C	9: 15,878,398 (GRCm39)	E3361G	probably damaging	Het
Fbxl7	T	A	15: 26,552,902 (GRCm39)	M122L	probably benign	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm12185	T	A	11: 48,806,280 (GRCm39)	T304S	possibly damaging	Het
Grin3b	A	T	10: 79,809,667 (GRCm39)	D391V	probably benign	Het
Hao2	T	A	3: 98,784,528 (GRCm39)	D279V	probably damaging	Het
Il4i1	C	A	7: 44,489,175 (GRCm39)	D313E	probably damaging	Het
Kcnk7	T	A	19: 5,756,743 (GRCm39)	L244Q	probably damaging	Het
Lingo4	A	T	3: 94,310,840 (GRCm39)	M593L	probably benign	Het
Lix1	G	A	17: 17,663,955 (GRCm39)	A98T	probably damaging	Het
Lpo	T	A	11: 87,708,603 (GRCm39)	I132L	probably benign	Het
Mymx	A	T	17: 45,912,935 (GRCm39)		probably null	Het
Nms	T	C	1: 38,978,391 (GRCm39)	S9P	probably benign	Het
Nom1	A	G	5: 29,645,137 (GRCm39)	D535G	probably damaging	Het
Or2t43	T	A	11: 58,457,902 (GRCm39)	I90F	probably damaging	Het
Or5p81	T	A	7: 108,266,929 (GRCm39)	I102N	probably benign	Het
Or8k25	T	C	2: 86,243,821 (GRCm39)	T192A	probably benign	Het
Pgbd1	A	G	13: 21,607,052 (GRCm39)	C381R	probably damaging	Het
Pkp1	T	C	1: 135,807,652 (GRCm39)	S539G	probably damaging	Het
Plcd3	C	A	11: 102,971,446 (GRCm39)	R66L	probably benign	Het
Polr3a	A	T	14: 24,500,834 (GRCm39)	L1318Q	probably damaging	Het
Ppara	T	A	15: 85,673,188 (GRCm39)	F126L	possibly damaging	Het
Rab11a	T	C	9: 64,624,264 (GRCm39)	Y173C	probably damaging	Het
Rev3l	T	A	10: 39,722,705 (GRCm39)	M2566K	probably damaging	Het
Rwdd1	A	G	10: 33,884,987 (GRCm39)		probably null	Het
Scn7a	G	A	2: 66,530,393 (GRCm39)	R651*	probably null	Het
Slc15a4	T	G	5: 127,679,021 (GRCm39)	I440L	probably benign	Het
Slc28a2	A	G	2: 122,290,902 (GRCm39)	T623A	probably benign	Het
Snd1	T	A	6: 28,874,962 (GRCm39)	S628T	possibly damaging	Het
Speg	T	C	1: 75,404,082 (GRCm39)		probably null	Het
Spta1	G	A	1: 174,025,310 (GRCm39)	R725K	probably benign	Het
Stag3	A	G	5: 138,288,528 (GRCm39)	E185G	probably null	Het
Svop	G	T	5: 114,183,687 (GRCm39)	T195K		Het
Tbc1d5	A	T	17: 51,226,082 (GRCm39)	F254I	probably damaging	Het
Ulk3	T	C	9: 57,496,890 (GRCm39)	L8P	probably benign	Het
Unc13c	T	C	9: 73,433,263 (GRCm39)	I1973V	probably benign	Het
Upb1	T	A	10: 75,264,178 (GRCm39)		probably null	Het
Usp53	C	T	3: 122,742,825 (GRCm39)	G704S	probably benign	Het
Usp53	T	C	3: 122,743,235 (GRCm39)	D567G	probably benign	Het
Vmn1r72	T	A	7: 11,404,269 (GRCm39)	I60F	probably damaging	Het
Vmn2r34	C	T	7: 7,675,307 (GRCm39)	V694I	probably benign	Het
Vmn2r60	T	C	7: 41,786,169 (GRCm39)	F324S	probably damaging	Het
Vps37d	A	G	5: 135,102,519 (GRCm39)	S238P	probably damaging	Het
Zfp407	T	A	18: 84,578,819 (GRCm39)	I765F	probably damaging	Het
Zfp455	A	G	13: 67,356,089 (GRCm39)	I387M	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
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
R7891:Ehd3	UTSW	17	74,123,387 (GRCm39)	missense	probably benign	0.19
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'- GACCTATCCTTAGCCCATCAG -3'
(R):5'- CATACATAGGCTTGTCCCGC -3'

Sequencing Primer
(F):5'- AGCCCATCAGGTCCTTGC -3'
(R):5'- CCACTCGGCATCATCGATG -3'

Posted On

2021-07-15