Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Hsd17b4'

582000

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

045582-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50261268-50329336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50297749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 346 (Y346F)

Ref Sequence

ENSEMBL: ENSMUSP00000025385 (fasta)

Gene Model

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

AlphaFold

P51660

Predicted Effect

probably damaging
Transcript: ENSMUST00000025385
AA Change: Y346F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025385
Gene: ENSMUSG00000024507
AA Change: Y346F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hgsnat	A	G	8: 26,445,754 (GRCm39)	V380A	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mei4	T	A	9: 81,907,630 (GRCm39)	L320Q	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Pole	A	T	5: 110,478,571 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Strada	C	A	11: 106,077,920 (GRCm39)	V15F	unknown	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tmtc3	A	T	10: 100,301,956 (GRCm39)	F331Y	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	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
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
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
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'- TCCCCTGGTATTTTGTGACCTAGG -3'
(R):5'- GGACCAAACAATGCTCCTGG -3'

Sequencing Primer
(F):5'- ACCTAGGGATCTGTCAATGTCAG -3'
(R):5'- AACAATGCTCCTGGTAGGC -3'

Posted On

2019-10-17