Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Hsd17b4'

554168

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

045253-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50261268-50329336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50261437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 7 (F7L)

Ref Sequence

ENSEMBL: ENSMUSP00000025385 (fasta)

Gene Model

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

AlphaFold

P51660

Predicted Effect

probably damaging
Transcript: ENSMUST00000025385
AA Change: F7L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: F7L

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

0.3994

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,390,347 (GRCm39)	T215A	probably benign	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,323,816 (GRCm39)		probably null	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,888,085 (GRCm39)	Q129K	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Neu2	A	G	1: 87,524,297 (GRCm39)	E94G	probably benign	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,125,127 (GRCm39)	F183L	probably benign	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	possibly 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
R0734:Hsd17b4	UTSW	18	50,303,844 (GRCm39)	missense	possibly damaging	0.90
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
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'- CTACATTTCCCATGATGCCAAGC -3'
(R):5'- TTATAAGCTCCCTCCGGGCATG -3'

Sequencing Primer
(F):5'- TGATGCCAAGCCAGTCCC -3'
(R):5'- CATGGGACCCGGAGCAC -3'

Posted On

2019-05-15