Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01999:Hacd2'

182158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hacd2

Ensembl Gene

ENSMUSG00000035376

Gene Name

3-hydroxyacyl-CoA dehydratase 2

Synonyms

Ptplb, 6330408J20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL01999

Quality Score

Status

Chromosome

Chromosomal Location

34842798-34929547 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34869083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061156]

AlphaFold

Q9D3B1

Predicted Effect

probably benign
Transcript: ENSMUST00000061156

SMART Domains

Protein: ENSMUSP00000060462
Gene: ENSMUSG00000035376

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	12	27	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
Pfam:PTPLA	85	246	1.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231556

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cabs1	C	T	5: 88,127,787 (GRCm39)	T146I	possibly damaging	Het
Cfap161	C	T	7: 83,440,899 (GRCm39)	V118M	probably damaging	Het
Cfap95	C	A	19: 23,569,529 (GRCm39)	L130F	possibly damaging	Het
Chrna7	T	C	7: 62,753,539 (GRCm39)	M327V	probably damaging	Het
Ddx18	A	G	1: 121,489,457 (GRCm39)	I228T	probably benign	Het
Dnhd1	T	A	7: 105,370,422 (GRCm39)	S4616T	possibly damaging	Het
Dsp	T	A	13: 38,365,162 (GRCm39)	M515K	probably damaging	Het
Dysf	C	T	6: 84,090,600 (GRCm39)	P1002L	probably damaging	Het
Exoc7	T	C	11: 116,191,926 (GRCm39)		probably null	Het
Gria2	G	A	3: 80,639,398 (GRCm39)	R205W	probably damaging	Het
Helz	G	T	11: 107,493,754 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,202,155 (GRCm39)	N352S	probably benign	Het
Mfsd11	T	A	11: 116,752,411 (GRCm39)	F135I	probably damaging	Het
Mtmr10	A	G	7: 63,987,460 (GRCm39)	N667D	probably benign	Het
Mtmr9	A	C	14: 63,779,903 (GRCm39)	F62C	probably damaging	Het
Nelfcd	T	C	2: 174,265,308 (GRCm39)		probably benign	Het
Nfasc	A	G	1: 132,532,985 (GRCm39)		probably benign	Het
Npnt	C	T	3: 132,614,160 (GRCm39)	R150Q	probably damaging	Het
Or5b108	G	A	19: 13,168,924 (GRCm39)	A298T	probably damaging	Het
Or5p55	C	T	7: 107,566,675 (GRCm39)	R24C	probably benign	Het
Or6b13	C	T	7: 139,782,345 (GRCm39)	E113K	probably damaging	Het
Pcdhb2	C	T	18: 37,429,890 (GRCm39)	A621V	probably damaging	Het
Pkd1l1	C	A	11: 8,786,291 (GRCm39)	W1921L	probably benign	Het
Plcb1	G	A	2: 135,188,238 (GRCm39)	R777Q	probably damaging	Het
Plch1	G	A	3: 63,660,728 (GRCm39)	P297L	probably damaging	Het
Ppp2r2b	T	C	18: 42,778,788 (GRCm39)		probably benign	Het
Ppp6r2	A	G	15: 89,154,155 (GRCm39)	D372G	probably benign	Het
Rtn4r	A	G	16: 17,969,321 (GRCm39)	R250G	possibly damaging	Het
Sec61a2	A	G	2: 5,896,174 (GRCm39)		probably benign	Het
Sema3g	G	T	14: 30,939,922 (GRCm39)	V19L	probably benign	Het
Sult2a7	T	C	7: 14,225,648 (GRCm39)	T113A	probably benign	Het
Tcp11l1	T	C	2: 104,528,914 (GRCm39)	D128G	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Vcan	A	G	13: 89,832,557 (GRCm39)	L2150P	probably damaging	Het
Vmn1r40	A	C	6: 89,691,948 (GRCm39)	N255T	probably benign	Het
Vmn2r68	T	C	7: 84,871,439 (GRCm39)	N615D	probably damaging	Het
Zdhhc25	A	G	15: 88,485,217 (GRCm39)	E184G	probably damaging	Het

Other mutations in Hacd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02454:Hacd2	APN	16	34,926,761 (GRCm39)	missense	probably benign	0.03
R0057:Hacd2	UTSW	16	34,895,997 (GRCm39)	missense	probably damaging	1.00
R0057:Hacd2	UTSW	16	34,895,997 (GRCm39)	missense	probably damaging	1.00
R1831:Hacd2	UTSW	16	34,922,434 (GRCm39)	missense	probably damaging	1.00
R1945:Hacd2	UTSW	16	34,922,354 (GRCm39)	missense	possibly damaging	0.82
R2097:Hacd2	UTSW	16	34,869,090 (GRCm39)	missense	probably benign	0.01
R2392:Hacd2	UTSW	16	34,926,748 (GRCm39)	missense	probably benign	0.04
R4962:Hacd2	UTSW	16	34,842,921 (GRCm39)	missense	unknown
R5731:Hacd2	UTSW	16	34,922,374 (GRCm39)	missense	probably damaging	1.00
R7751:Hacd2	UTSW	16	34,922,434 (GRCm39)	missense	probably damaging	1.00
R7850:Hacd2	UTSW	16	34,922,477 (GRCm39)	missense	probably damaging	1.00
R9101:Hacd2	UTSW	16	34,920,156 (GRCm39)	missense	probably benign	0.43
Z1176:Hacd2	UTSW	16	34,926,695 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07