Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00907:Hsd17b2'

27994

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b2

Ensembl Gene

ENSMUSG00000031844

Gene Name

hydroxysteroid (17-beta) dehydrogenase 2

Synonyms

17 HSD type 2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

117701904-117759027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117734694 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 157 (I157L)

Ref Sequence

ENSEMBL: ENSMUSP00000034304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034304]

Predicted Effect

probably benign
Transcript: ENSMUST00000034304
AA Change: I157L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: I157L

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:adh_short	84	279	1.3e-48	PFAM
Pfam:KR	85	263	3.6e-7	PFAM
Pfam:DUF1776	85	361	3.2e-13	PFAM
Pfam:adh_short_C2	89	288	1.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212998

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,561,705	D502G	possibly damaging	Het
Brwd3	A	G	X: 108,784,246		probably benign	Het
Ccdc171	T	A	4: 83,864,249	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435	I1401T	probably damaging	Het
Csf1	T	C	3: 107,750,346	N76S	probably damaging	Het
Dld	A	G	12: 31,332,330		probably benign	Het
Eif5	T	A	12: 111,540,555	I141N	probably damaging	Het
Etl4	G	A	2: 20,766,478	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,213,526	R550W	probably damaging	Het
Hipk2	A	G	6: 38,818,273	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ibtk	A	G	9: 85,690,331	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,427,448		probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Kir3dl1	G	A	X: 136,525,162	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,144,651	V383A	probably benign	Het
Mael	A	G	1: 166,204,849	Y314H	probably damaging	Het
Npat	T	C	9: 53,563,290	V794A	possibly damaging	Het
Nr4a2	T	A	2: 57,109,217	I340F	probably damaging	Het
Olfr1195	A	G	2: 88,683,294	V146A	probably benign	Het
Olfr477	A	T	7: 107,990,890	D175V	probably damaging	Het
Olfr836	T	A	9: 19,121,232	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,107,564	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667	T264I	probably benign	Het
Sars2	G	T	7: 28,753,423		probably benign	Het
Scn1a	A	C	2: 66,327,797	S411A	probably damaging	Het
Srsf5	T	C	12: 80,947,834	V112A	probably damaging	Het
Susd2	T	C	10: 75,640,931	N206S	probably benign	Het
Thrap3	C	T	4: 126,165,578	G892S	probably benign	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	Het

Other mutations in Hsd17b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Hsd17b2	APN	8	117758671	missense	probably damaging	0.98
R0664:Hsd17b2	UTSW	8	117758701	missense	possibly damaging	0.67
R1506:Hsd17b2	UTSW	8	117702265	critical splice donor site	probably null
R1627:Hsd17b2	UTSW	8	117702170	missense	possibly damaging	0.53
R1822:Hsd17b2	UTSW	8	117758749	missense	possibly damaging	0.47
R1930:Hsd17b2	UTSW	8	117758904	missense	possibly damaging	0.56
R2055:Hsd17b2	UTSW	8	117702174	missense	possibly damaging	0.96
R3159:Hsd17b2	UTSW	8	117758752	missense	probably damaging	1.00
R6536:Hsd17b2	UTSW	8	117702182	missense	possibly damaging	0.96
R8074:Hsd17b2	UTSW	8	117758701	missense	possibly damaging	0.67
R8310:Hsd17b2	UTSW	8	117742416	missense	probably damaging	0.99

Posted On

2013-04-17