Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02230:Hsd17b12'

285661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b12

Ensembl Gene

ENSMUSG00000027195

Gene Name

hydroxysteroid (17-beta) dehydrogenase 12

Synonyms

keratonectin, keratoadhesin, 2610510O05Rik, KIK-I

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

94032689-94157964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94045398 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 194 (L194P)

Ref Sequence

ENSEMBL: ENSMUSP00000028619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028619]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028619
AA Change: L194P

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: L194P

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:adh_short	51	248	1.5e-46	PFAM
Pfam:KR	52	125	4.4e-7	PFAM
Pfam:adh_short_C2	57	277	7.5e-10	PFAM
low complexity region	298	312	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146580

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels. [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
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Hsd17b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Hsd17b12	APN	2	94083165	critical splice donor site	probably null
IGL00785:Hsd17b12	APN	2	94045414	missense	probably damaging	1.00
IGL02635:Hsd17b12	APN	2	94083211	missense	possibly damaging	0.93
IGL03094:Hsd17b12	APN	2	94033994	missense	probably damaging	1.00
R0242:Hsd17b12	UTSW	2	94157815	missense	probably benign	0.14
R0242:Hsd17b12	UTSW	2	94157815	missense	probably benign	0.14
R0390:Hsd17b12	UTSW	2	94114990	splice site	probably benign
R0552:Hsd17b12	UTSW	2	94043935	missense	probably damaging	1.00
R0605:Hsd17b12	UTSW	2	94033642	missense	probably benign	0.00
R1585:Hsd17b12	UTSW	2	94033976	missense	probably damaging	1.00
R1681:Hsd17b12	UTSW	2	94033561	missense	unknown
R1922:Hsd17b12	UTSW	2	94045392	missense	probably benign	0.00
R2190:Hsd17b12	UTSW	2	94034063	missense	probably benign	0.02
R2384:Hsd17b12	UTSW	2	94033619	missense	probably benign
R3123:Hsd17b12	UTSW	2	94033958	missense	probably benign	0.03
R3124:Hsd17b12	UTSW	2	94033958	missense	probably benign	0.03
R3125:Hsd17b12	UTSW	2	94033958	missense	probably benign	0.03
R4283:Hsd17b12	UTSW	2	94033586	missense	unknown
R5218:Hsd17b12	UTSW	2	94083263	missense	probably benign	0.02
R5357:Hsd17b12	UTSW	2	94033645	missense	possibly damaging	0.47
R6020:Hsd17b12	UTSW	2	94033977	missense	probably damaging	1.00
R6493:Hsd17b12	UTSW	2	94043883	missense	probably damaging	1.00
R7792:Hsd17b12	UTSW	2	94033641	missense	probably benign	0.00
R8769:Hsd17b12	UTSW	2	94115052	missense	probably damaging	0.97

Posted On

2015-04-16