Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03279:Hsd17b14'

415536

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: 0.075) question?

Stock #

IGL03279

Quality Score

Status

Chromosome

Chromosomal Location

45204345-45216745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45215617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 206 (I206F)

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: I206F

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103381
Gene: ENSMUSG00000030825
AA Change: I206F

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

probably benign
Transcript: ENSMUST00000210300
AA Change: H183L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000210997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210383

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,904,504 (GRCm39)	D224V	probably damaging	Het
Abca4	C	A	3: 121,935,381 (GRCm39)	N1526K	probably benign	Het
Aif1	T	A	17: 35,390,523 (GRCm39)	K76*	probably null	Het
Arap2	A	G	5: 62,779,253 (GRCm39)	S1446P	probably damaging	Het
Cyb5rl	A	T	4: 106,941,325 (GRCm39)	E250V	possibly damaging	Het
Dock3	T	C	9: 106,788,447 (GRCm39)		probably benign	Het
Dppa2	A	G	16: 48,132,028 (GRCm39)	T42A	possibly damaging	Het
Drosha	C	T	15: 12,859,478 (GRCm39)	P562L	probably benign	Het
Egfl7	C	A	2: 26,480,719 (GRCm39)	H126N	probably benign	Het
Gm5852	T	C	3: 93,634,584 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,138,098 (GRCm39)	F228S	probably damaging	Het
Grid1	T	A	14: 34,667,722 (GRCm39)	M83K	probably damaging	Het
Gsdma2	T	C	11: 98,548,549 (GRCm39)	S434P	unknown	Het
Hao2	T	A	3: 98,787,712 (GRCm39)	N239I	possibly damaging	Het
Kansl1l	A	T	1: 66,774,825 (GRCm39)	V667E	probably damaging	Het
Kdm3a	T	C	6: 71,588,659 (GRCm39)	D450G	probably benign	Het
Lmo7	C	A	14: 102,137,944 (GRCm39)	A882E	probably benign	Het
P4ha3	A	G	7: 99,949,893 (GRCm39)	Y254C	probably damaging	Het
Pcdh15	A	G	10: 74,152,904 (GRCm39)	Y408C	probably damaging	Het
Pglyrp3	T	C	3: 91,933,834 (GRCm39)	Y160H	probably damaging	Het
Pnma5	G	A	X: 72,079,605 (GRCm39)	T359I	probably benign	Het
Ptbp3	A	T	4: 59,476,937 (GRCm39)	H440Q	possibly damaging	Het
Rbx1	A	G	15: 81,352,399 (GRCm39)	N41S	probably damaging	Het
Rpl3	G	A	15: 79,962,560 (GRCm39)	T340I	probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Sema6a	A	T	18: 47,433,157 (GRCm39)	C91*	probably null	Het
Slco6d1	T	A	1: 98,394,405 (GRCm39)	V363E	probably damaging	Het
Stk38	A	G	17: 29,203,179 (GRCm39)		probably benign	Het
Tanc2	G	A	11: 105,803,918 (GRCm39)		probably null	Het
Thada	A	G	17: 84,742,988 (GRCm39)	F812S	probably benign	Het
Tubb4b-ps1	A	G	5: 7,229,630 (GRCm39)		probably benign	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vps52	T	A	17: 34,176,848 (GRCm39)	D67E	probably damaging	Het

Other mutations in Hsd17b14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Hsd17b14	APN	7	45,216,137 (GRCm39)	missense	possibly damaging	0.72
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
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

2016-08-02