Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Hsd17b4'

68185

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b4

Ensembl Gene

ENSMUSG00000024507

Gene Name

hydroxysteroid (17-beta) dehydrogenase 4

Synonyms

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

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R0734 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

50261268-50329336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50303844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 439 (V439A)

Ref Sequence

ENSEMBL: ENSMUSP00000025385 (fasta)

Gene Model

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

AlphaFold

P51660

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025385
AA Change: V439A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: V439A

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

Meta Mutation Damage Score

0.1393

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	Het

Other mutations in Hsd17b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Hsd17b4	APN	18	50,297,912 (GRCm39)	missense	probably benign
IGL01369:Hsd17b4	APN	18	50,305,100 (GRCm39)	missense	possibly damaging	0.95
IGL01411:Hsd17b4	APN	18	50,324,881 (GRCm39)	missense	probably damaging	1.00
IGL01986:Hsd17b4	APN	18	50,293,193 (GRCm39)	splice site	probably benign
IGL02126:Hsd17b4	APN	18	50,315,063 (GRCm39)	missense	probably benign
IGL02496:Hsd17b4	APN	18	50,288,220 (GRCm39)	missense	probably damaging	0.97
IGL02527:Hsd17b4	APN	18	50,293,231 (GRCm39)	missense	probably benign	0.00
IGL02553:Hsd17b4	APN	18	50,295,164 (GRCm39)	splice site	probably benign
IGL02813:Hsd17b4	APN	18	50,261,415 (GRCm39)	utr 5 prime	probably benign
inauspicious	UTSW	18	50,279,491 (GRCm39)	missense	probably damaging	1.00
I0000:Hsd17b4	UTSW	18	50,293,295 (GRCm39)	missense	probably benign	0.09
IGL02980:Hsd17b4	UTSW	18	50,279,585 (GRCm39)	missense	probably benign	0.06
R0352:Hsd17b4	UTSW	18	50,324,851 (GRCm39)	missense	probably benign
R0967:Hsd17b4	UTSW	18	50,316,328 (GRCm39)	missense	probably benign	0.00
R1418:Hsd17b4	UTSW	18	50,263,254 (GRCm39)	splice site	probably benign
R1661:Hsd17b4	UTSW	18	50,293,282 (GRCm39)	missense	probably benign
R1665:Hsd17b4	UTSW	18	50,293,282 (GRCm39)	missense	probably benign
R1752:Hsd17b4	UTSW	18	50,303,834 (GRCm39)	missense	probably benign	0.27
R1804:Hsd17b4	UTSW	18	50,311,051 (GRCm39)	missense	probably damaging	1.00
R2197:Hsd17b4	UTSW	18	50,316,369 (GRCm39)	splice site	probably null
R4351:Hsd17b4	UTSW	18	50,275,701 (GRCm39)	missense	probably damaging	1.00
R4405:Hsd17b4	UTSW	18	50,261,381 (GRCm39)	start gained	probably benign
R4976:Hsd17b4	UTSW	18	50,293,202 (GRCm39)	missense	probably damaging	1.00
R5788:Hsd17b4	UTSW	18	50,306,776 (GRCm39)	missense	probably damaging	0.99
R5826:Hsd17b4	UTSW	18	50,316,239 (GRCm39)	missense	probably benign	0.00
R5889:Hsd17b4	UTSW	18	50,310,276 (GRCm39)	missense	probably damaging	1.00
R6475:Hsd17b4	UTSW	18	50,305,329 (GRCm39)	splice site	probably null
R6632:Hsd17b4	UTSW	18	50,312,169 (GRCm39)	missense	possibly damaging	0.70
R7151:Hsd17b4	UTSW	18	50,261,437 (GRCm39)	missense	probably damaging	1.00
R7367:Hsd17b4	UTSW	18	50,288,252 (GRCm39)	missense	probably damaging	1.00
R7383:Hsd17b4	UTSW	18	50,297,917 (GRCm39)	missense	probably benign	0.13
R7397:Hsd17b4	UTSW	18	50,279,491 (GRCm39)	missense	probably damaging	1.00
R7509:Hsd17b4	UTSW	18	50,297,749 (GRCm39)	missense	probably damaging	1.00
R7697:Hsd17b4	UTSW	18	50,263,208 (GRCm39)	missense	probably damaging	1.00
R7722:Hsd17b4	UTSW	18	50,279,591 (GRCm39)	missense	probably damaging	1.00
R7764:Hsd17b4	UTSW	18	50,279,482 (GRCm39)	nonsense	probably null
R8065:Hsd17b4	UTSW	18	50,303,819 (GRCm39)	missense	possibly damaging	0.90
R8264:Hsd17b4	UTSW	18	50,279,593 (GRCm39)	missense	possibly damaging	0.79
R8350:Hsd17b4	UTSW	18	50,297,734 (GRCm39)	missense	probably benign	0.00
R8450:Hsd17b4	UTSW	18	50,297,734 (GRCm39)	missense	probably benign	0.00
R9345:Hsd17b4	UTSW	18	50,299,981 (GRCm39)	missense	probably benign	0.04
R9654:Hsd17b4	UTSW	18	50,272,533 (GRCm39)	missense	probably benign	0.01
R9705:Hsd17b4	UTSW	18	50,324,791 (GRCm39)	missense	probably benign	0.41
R9790:Hsd17b4	UTSW	18	50,324,907 (GRCm39)	critical splice donor site	probably null
R9791:Hsd17b4	UTSW	18	50,324,907 (GRCm39)	critical splice donor site	probably null
Z1177:Hsd17b4	UTSW	18	50,315,047 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCAATTAGACCTTCTAAGAGGAGGCAC -3'
(R):5'- GGGCCTAAGCAGTTTCACCTACTTAC -3'

Sequencing Primer
(F):5'- CCTTCTAAGAGGAGGCACTATATAAG -3'
(R):5'- AAGCAGTTTCACCTACTTACTGTCC -3'

Posted On

2013-09-03