Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Hsd17b4'

295838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b4

Ensembl Gene

ENSMUSG00000024507

Gene Name

hydroxysteroid (17-beta) dehydrogenase 4

Synonyms

D-bifunctional protein, MFP2, multifunctional protein 2, 17[b]-HSD, Mfp-2, perMFE-2, MFE-2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

50128201-50196269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50155153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 217 (Y217H)

Ref Sequence

ENSEMBL: ENSMUSP00000025385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025385]

AlphaFold

P51660

Predicted Effect

probably damaging
Transcript: ENSMUST00000025385
AA Change: Y217H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: Y217H

Domain	Start	End	E-Value	Type
Pfam:KR	10	186	2.1e-17	PFAM
Pfam:adh_short	10	208	2.3e-39	PFAM
Pfam:MaoC_dehydrat_N	346	451	1.4e-8	PFAM
low complexity region	458	470	N/A	INTRINSIC
Pfam:MaoC_dehydratas	479	600	1.8e-41	PFAM
Pfam:SCP2	627	730	8.4e-27	PFAM

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 is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in fatty acid metabolism, retarded growth, abnormal bile salt composition, impaired coordination, demyelination and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553 (GRCm38)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604 (GRCm38)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943 (GRCm38)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613 (GRCm38)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293 (GRCm38)	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495 (GRCm38)	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243 (GRCm38)		probably benign	Het
Csn1s1	C	T	5: 87,677,594 (GRCm38)		probably benign	Het
Cul9	G	T	17: 46,540,376 (GRCm38)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705 (GRCm38)	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363 (GRCm38)	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391 (GRCm38)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm38)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,685 (GRCm38)	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761 (GRCm38)	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678 (GRCm38)		probably benign	Het
Iba57	T	C	11: 59,158,946 (GRCm38)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687 (GRCm38)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928 (GRCm38)	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201 (GRCm38)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644 (GRCm38)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558 (GRCm38)		probably benign	Het
Mmp20	A	G	9: 7,654,041 (GRCm38)	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655 (GRCm38)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631 (GRCm38)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043 (GRCm38)		probably benign	Het
Ocrl	G	A	X: 47,933,438 (GRCm38)	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192 (GRCm38)	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804 (GRCm38)	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168 (GRCm38)	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002 (GRCm38)		probably null	Het
Parp8	T	C	13: 116,862,302 (GRCm38)		probably benign	Het
Pcdhb6	A	G	18: 37,335,454 (GRCm38)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376 (GRCm38)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094 (GRCm38)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663 (GRCm38)	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383 (GRCm38)		probably benign	Het
Pmaip1	A	G	18: 66,463,299 (GRCm38)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666 (GRCm38)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407 (GRCm38)	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484 (GRCm38)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144 (GRCm38)	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003 (GRCm38)	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879 (GRCm38)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726 (GRCm38)	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425 (GRCm38)		probably null	Het
Sipa1l1	T	A	12: 82,425,094 (GRCm38)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485 (GRCm38)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400 (GRCm38)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088 (GRCm38)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481 (GRCm38)	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448 (GRCm38)	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662 (GRCm38)	V704L	probably benign	Het
St5	C	A	7: 109,556,235 (GRCm38)	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492 (GRCm38)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418 (GRCm38)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561 (GRCm38)	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654 (GRCm38)	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823 (GRCm38)		probably benign	Het
Vmn1r8	G	T	6: 57,036,571 (GRCm38)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856 (GRCm38)	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431 (GRCm38)		probably benign	Het
Wfdc1	T	G	8: 119,680,170 (GRCm38)	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794 (GRCm38)	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395 (GRCm38)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992 (GRCm38)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042 (GRCm38)	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630 (GRCm38)	C731S	possibly damaging	Het

Other mutations in Hsd17b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Hsd17b4	APN	18	50,164,845 (GRCm38)	missense	probably benign
IGL01369:Hsd17b4	APN	18	50,172,033 (GRCm38)	missense	possibly damaging	0.95
IGL01411:Hsd17b4	APN	18	50,191,814 (GRCm38)	missense	probably damaging	1.00
IGL01986:Hsd17b4	APN	18	50,160,126 (GRCm38)	splice site	probably benign
IGL02126:Hsd17b4	APN	18	50,181,996 (GRCm38)	missense	probably benign
IGL02527:Hsd17b4	APN	18	50,160,164 (GRCm38)	missense	probably benign	0.00
IGL02553:Hsd17b4	APN	18	50,162,097 (GRCm38)	splice site	probably benign
IGL02813:Hsd17b4	APN	18	50,128,348 (GRCm38)	utr 5 prime	probably benign
inauspicious	UTSW	18	50,146,424 (GRCm38)	missense	probably damaging	1.00
I0000:Hsd17b4	UTSW	18	50,160,228 (GRCm38)	missense	probably benign	0.09
IGL02980:Hsd17b4	UTSW	18	50,146,518 (GRCm38)	missense	probably benign	0.06
R0352:Hsd17b4	UTSW	18	50,191,784 (GRCm38)	missense	probably benign
R0734:Hsd17b4	UTSW	18	50,170,777 (GRCm38)	missense	possibly damaging	0.90
R0967:Hsd17b4	UTSW	18	50,183,261 (GRCm38)	missense	probably benign	0.00
R1418:Hsd17b4	UTSW	18	50,130,187 (GRCm38)	splice site	probably benign
R1661:Hsd17b4	UTSW	18	50,160,215 (GRCm38)	missense	probably benign
R1665:Hsd17b4	UTSW	18	50,160,215 (GRCm38)	missense	probably benign
R1752:Hsd17b4	UTSW	18	50,170,767 (GRCm38)	missense	probably benign	0.27
R1804:Hsd17b4	UTSW	18	50,177,984 (GRCm38)	missense	probably damaging	1.00
R2197:Hsd17b4	UTSW	18	50,183,302 (GRCm38)	splice site	probably null
R4351:Hsd17b4	UTSW	18	50,142,634 (GRCm38)	missense	probably damaging	1.00
R4405:Hsd17b4	UTSW	18	50,128,314 (GRCm38)	start gained	probably benign
R4976:Hsd17b4	UTSW	18	50,160,135 (GRCm38)	missense	probably damaging	1.00
R5788:Hsd17b4	UTSW	18	50,173,709 (GRCm38)	missense	probably damaging	0.99
R5826:Hsd17b4	UTSW	18	50,183,172 (GRCm38)	missense	probably benign	0.00
R5889:Hsd17b4	UTSW	18	50,177,209 (GRCm38)	missense	probably damaging	1.00
R6475:Hsd17b4	UTSW	18	50,172,262 (GRCm38)	splice site	probably null
R6632:Hsd17b4	UTSW	18	50,179,102 (GRCm38)	missense	possibly damaging	0.70
R7151:Hsd17b4	UTSW	18	50,128,370 (GRCm38)	missense	probably damaging	1.00
R7367:Hsd17b4	UTSW	18	50,155,185 (GRCm38)	missense	probably damaging	1.00
R7383:Hsd17b4	UTSW	18	50,164,850 (GRCm38)	missense	probably benign	0.13
R7397:Hsd17b4	UTSW	18	50,146,424 (GRCm38)	missense	probably damaging	1.00
R7509:Hsd17b4	UTSW	18	50,164,682 (GRCm38)	missense	probably damaging	1.00
R7697:Hsd17b4	UTSW	18	50,130,141 (GRCm38)	missense	probably damaging	1.00
R7722:Hsd17b4	UTSW	18	50,146,524 (GRCm38)	missense	probably damaging	1.00
R7764:Hsd17b4	UTSW	18	50,146,415 (GRCm38)	nonsense	probably null
R8065:Hsd17b4	UTSW	18	50,170,752 (GRCm38)	missense	possibly damaging	0.90
R8264:Hsd17b4	UTSW	18	50,146,526 (GRCm38)	missense	possibly damaging	0.79
R8350:Hsd17b4	UTSW	18	50,164,667 (GRCm38)	missense	probably benign	0.00
R8450:Hsd17b4	UTSW	18	50,164,667 (GRCm38)	missense	probably benign	0.00
R9345:Hsd17b4	UTSW	18	50,166,914 (GRCm38)	missense	probably benign	0.04
R9654:Hsd17b4	UTSW	18	50,139,466 (GRCm38)	missense	probably benign	0.01
R9705:Hsd17b4	UTSW	18	50,191,724 (GRCm38)	missense	probably benign	0.41
R9790:Hsd17b4	UTSW	18	50,191,840 (GRCm38)	critical splice donor site	probably null
R9791:Hsd17b4	UTSW	18	50,191,840 (GRCm38)	critical splice donor site	probably null
Z1177:Hsd17b4	UTSW	18	50,181,980 (GRCm38)	missense	probably benign	0.06

Posted On

2015-04-16