Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00486:Hsd17b14'

5253

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b14

Ensembl Gene

ENSMUSG00000030825

Gene Name

hydroxysteroid (17-beta) dehydrogenase 14

Synonyms

0610039E24Rik, retSDR3, Dhrs10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL00486

Quality Score

Status

Chromosome

Chromosomal Location

45204345-45216745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45216137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 236 (T236A)

Ref Sequence

ENSEMBL: ENSMUSP00000103381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033098] [ENSMUST00000107752] [ENSMUST00000120864] [ENSMUST00000209204] [ENSMUST00000210300]

AlphaFold

E9Q3D4

Predicted Effect

probably benign
Transcript: ENSMUST00000033098

SMART Domains

Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	101	351	5.4e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107752
AA Change: T236A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: T236A

Domain	Start	End	E-Value	Type
Pfam:KR	10	187	4.3e-12	PFAM
Pfam:adh_short	10	200	2.9e-53	PFAM
Pfam:Epimerase	12	184	4.2e-7	PFAM
Pfam:adh_short_C2	16	250	8.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120864

SMART Domains

Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826

Domain	Start	End	E-Value	Type
Pfam:Aminotran_4	119	370	7.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210866

Predicted Effect

probably benign
Transcript: ENSMUST00000210300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211530

Predicted Effect

probably benign
Transcript: ENSMUST00000210997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211029

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
PHENOTYPE: In a high-throughput phenotyping screen, male null mice exhibit infertility, decreased sperm production, testicular degeneration and an increased anxiety-like response to stress-induced hyperthermia. Homozygous null mice also show an increase in serum IgG2a in response to antigen challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,076 (GRCm39)	T576A	probably damaging	Het
As3mt	A	G	19: 46,708,864 (GRCm39)	E286G	probably benign	Het
Baiap3	G	T	17: 25,467,351 (GRCm39)		probably benign	Het
C1qc	T	C	4: 136,617,445 (GRCm39)	E217G	probably damaging	Het
Ccser2	A	G	14: 36,662,021 (GRCm39)	Y388H	probably damaging	Het
Clcn7	C	A	17: 25,370,097 (GRCm39)	A328D	probably damaging	Het
Clstn1	G	A	4: 149,719,700 (GRCm39)	R415Q	probably damaging	Het
Hcn4	T	C	9: 58,767,336 (GRCm39)	S966P	unknown	Het
Heph	A	T	X: 95,571,284 (GRCm39)	D748V	probably damaging	Het
Herc1	C	T	9: 66,383,402 (GRCm39)	T3691I	probably benign	Het
Kif28	C	A	1: 179,530,081 (GRCm39)	L693F	probably damaging	Het
Mnd1	T	C	3: 84,045,505 (GRCm39)	E33G	possibly damaging	Het
Nbas	T	G	12: 13,503,076 (GRCm39)	D1520E	probably benign	Het
Poli	C	T	18: 70,658,561 (GRCm39)	G81R	probably damaging	Het
Pou6f2	G	A	13: 18,314,170 (GRCm39)	S401F	probably damaging	Het
Ppp1r3c	G	A	19: 36,711,324 (GRCm39)	R149W	probably damaging	Het
Ptprc	C	A	1: 138,043,359 (GRCm39)	C64F	probably damaging	Het
Ptprz1	T	C	6: 22,973,053 (GRCm39)	Y274H	probably damaging	Het
Ranbp2	T	A	10: 58,313,434 (GRCm39)	L1385I	probably benign	Het
Sgms1	A	T	19: 32,137,025 (GRCm39)	F180L	probably damaging	Het
Slc7a9	T	A	7: 35,160,312 (GRCm39)	M396K	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tnxb	T	C	17: 34,911,356 (GRCm39)	L1553P	probably damaging	Het
Trim31	C	A	17: 37,220,133 (GRCm39)	Q350K	probably benign	Het
Wnk3	A	G	X: 150,016,025 (GRCm39)	R494G	probably damaging	Het
Zmym6	A	G	4: 127,017,978 (GRCm39)		probably benign	Het

Other mutations in Hsd17b14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02504:Hsd17b14	APN	7	45,205,799 (GRCm39)	missense	possibly damaging	0.84
IGL03126:Hsd17b14	APN	7	45,205,503 (GRCm39)	missense	possibly damaging	0.83
IGL03279:Hsd17b14	APN	7	45,215,617 (GRCm39)	missense	possibly damaging	0.72
IGL03493:Hsd17b14	APN	7	45,205,515 (GRCm39)	missense	probably damaging	1.00
BB004:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99
BB014:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99
R0085:Hsd17b14	UTSW	7	45,205,834 (GRCm39)	unclassified	probably benign
R4128:Hsd17b14	UTSW	7	45,212,432 (GRCm39)	missense	probably damaging	1.00
R4513:Hsd17b14	UTSW	7	45,212,339 (GRCm39)	missense	probably benign	0.24
R5903:Hsd17b14	UTSW	7	45,215,386 (GRCm39)	missense	probably damaging	1.00
R6649:Hsd17b14	UTSW	7	45,205,500 (GRCm39)	missense	probably damaging	1.00
R6899:Hsd17b14	UTSW	7	45,212,352 (GRCm39)	missense	possibly damaging	0.90
R7541:Hsd17b14	UTSW	7	45,215,570 (GRCm39)	missense	probably damaging	1.00
R7829:Hsd17b14	UTSW	7	45,216,209 (GRCm39)	missense	probably benign	0.11
R7927:Hsd17b14	UTSW	7	45,215,395 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20