Mutagenetix > Incidental Mutation

Incidental Mutation 'R2190:Hsd17b12'

238003

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b12

Ensembl Gene

ENSMUSG00000027195

Gene Name

hydroxysteroid (17-beta) dehydrogenase 12

Synonyms

2610510O05Rik, keratoadhesin, KIK-I, keratonectin

MMRRC Submission

040192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93863042-93988254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93864408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 233 (Y233C)

Ref Sequence

ENSEMBL: ENSMUSP00000028619 (fasta)

Gene Model

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

AlphaFold

O70503

Predicted Effect

probably benign
Transcript: ENSMUST00000028619
AA Change: Y233C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: Y233C

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,766,785 (GRCm39)	T56S	probably damaging	Het
Acbd6	A	T	1: 155,500,652 (GRCm39)	H204L	probably damaging	Het
Acnat2	T	A	4: 49,383,551 (GRCm39)	M1L	probably benign	Het
Adgrg5	A	T	8: 95,660,579 (GRCm39)	I73F	probably damaging	Het
Ankrd52	A	G	10: 128,219,487 (GRCm39)	T474A	probably benign	Het
Arid3a	A	G	10: 79,782,365 (GRCm39)	D252G	possibly damaging	Het
Aspg	G	T	12: 112,091,322 (GRCm39)	E501D	probably damaging	Het
Bicral	A	G	17: 47,136,049 (GRCm39)	I387T	probably damaging	Het
Bub1	T	C	2: 127,652,645 (GRCm39)	N574S	probably benign	Het
Casr	G	A	16: 36,315,778 (GRCm39)	T764M	probably damaging	Het
Ccdc60	A	G	5: 116,295,639 (GRCm39)	S259P	probably damaging	Het
Ccne2	A	T	4: 11,197,241 (GRCm39)	N181I	probably benign	Het
Chd4	A	G	6: 125,091,260 (GRCm39)	D89G	probably benign	Het
Col25a1	C	T	3: 130,378,364 (GRCm39)	P606S	probably damaging	Het
Dcc	A	G	18: 71,680,491 (GRCm39)	S582P	possibly damaging	Het
Dlg4	A	G	11: 69,933,430 (GRCm39)	D619G	probably damaging	Het
Elavl2	C	T	4: 91,152,331 (GRCm39)	V129I	probably benign	Het
Epha3	A	G	16: 63,366,552 (GRCm39)	I965T	probably benign	Het
Fbxw16	G	A	9: 109,265,739 (GRCm39)	S360L	probably damaging	Het
Fgf14	T	C	14: 124,221,330 (GRCm39)	Y158C	probably damaging	Het
Gm44511	A	G	6: 128,803,163 (GRCm39)	I16T	possibly damaging	Het
Has2	C	A	15: 56,531,183 (GRCm39)	V511F	probably benign	Het
Heatr5b	G	A	17: 79,109,185 (GRCm39)	R1025C	probably damaging	Het
Il36rn	A	T	2: 24,170,831 (GRCm39)	I43F	probably damaging	Het
Inpp5b	T	A	4: 124,678,988 (GRCm39)	I465N	probably damaging	Het
Irak2	T	A	6: 113,663,904 (GRCm39)	N423K	probably damaging	Het
Itga2	C	A	13: 115,007,141 (GRCm39)	V396L	probably benign	Het
Itprid1	A	G	6: 55,874,685 (GRCm39)	T212A	possibly damaging	Het
Lipo2	A	T	19: 33,725,969 (GRCm39)	N94K	probably damaging	Het
Lrrc37a	T	C	11: 103,390,869 (GRCm39)	T1519A	possibly damaging	Het
Macf1	A	G	4: 123,353,005 (GRCm39)	V1558A	probably benign	Het
Mocos	C	A	18: 24,797,114 (GRCm39)	H91Q	probably benign	Het
Myh14	G	A	7: 44,310,487 (GRCm39)	T132I	probably damaging	Het
Nlrp2	A	T	7: 5,322,237 (GRCm39)	D803E	possibly damaging	Het
Ntsr2	T	A	12: 16,704,018 (GRCm39)	I173N	probably damaging	Het
Or14c43	A	G	7: 86,115,573 (GRCm39)	Y318C	possibly damaging	Het
Or5b105	T	G	19: 13,079,857 (GRCm39)	K270N	probably damaging	Het
Pitx3	T	C	19: 46,125,486 (GRCm39)	Y86C	probably damaging	Het
Pkp1	T	C	1: 135,807,709 (GRCm39)	S520G	probably benign	Het
Pygo1	C	T	9: 72,852,529 (GRCm39)	Q239*	probably null	Het
Rab13	A	G	3: 90,130,851 (GRCm39)	E68G	probably damaging	Het
Rfx7	A	G	9: 72,525,201 (GRCm39)	E797G	probably benign	Het
Slc5a1	T	C	5: 33,261,937 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,508,893 (GRCm39)	T518A	probably benign	Het
Spint1	A	G	2: 119,068,661 (GRCm39)	I132V	probably benign	Het
Stard9	T	A	2: 120,544,601 (GRCm39)	I4514N	probably benign	Het
Tenm3	T	G	8: 48,848,579 (GRCm39)	S87R	probably damaging	Het
Thap4	G	T	1: 93,678,381 (GRCm39)	P135Q	probably damaging	Het
Tmed9	A	G	13: 55,741,156 (GRCm39)	E57G	probably benign	Het
Tnrc18	C	T	5: 142,761,644 (GRCm39)	V594I	unknown	Het
Trmt1	A	T	8: 85,416,470 (GRCm39)	K64*	probably null	Het
Usf2	A	G	7: 30,654,606 (GRCm39)	V198A	probably damaging	Het
Usp14	A	T	18: 10,007,835 (GRCm39)	C168S	probably damaging	Het
Vav3	C	A	3: 109,470,130 (GRCm39)	T525K	probably damaging	Het
Vmn1r52	A	G	6: 90,156,151 (GRCm39)	I152V	probably benign	Het
Vmn2r81	A	G	10: 79,104,085 (GRCm39)	D236G	possibly damaging	Het
Wdr19	G	A	5: 65,401,509 (GRCm39)	V975I	possibly damaging	Het

Other mutations in Hsd17b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Hsd17b12	APN	2	93,913,510 (GRCm39)	critical splice donor site	probably null
IGL00785:Hsd17b12	APN	2	93,875,759 (GRCm39)	missense	probably damaging	1.00
IGL02230:Hsd17b12	APN	2	93,875,743 (GRCm39)	missense	possibly damaging	0.94
IGL02635:Hsd17b12	APN	2	93,913,556 (GRCm39)	missense	possibly damaging	0.93
IGL03094:Hsd17b12	APN	2	93,864,339 (GRCm39)	missense	probably damaging	1.00
R0242:Hsd17b12	UTSW	2	93,988,160 (GRCm39)	missense	probably benign	0.14
R0242:Hsd17b12	UTSW	2	93,988,160 (GRCm39)	missense	probably benign	0.14
R0390:Hsd17b12	UTSW	2	93,945,335 (GRCm39)	splice site	probably benign
R0552:Hsd17b12	UTSW	2	93,874,280 (GRCm39)	missense	probably damaging	1.00
R0605:Hsd17b12	UTSW	2	93,863,987 (GRCm39)	missense	probably benign	0.00
R1585:Hsd17b12	UTSW	2	93,864,321 (GRCm39)	missense	probably damaging	1.00
R1681:Hsd17b12	UTSW	2	93,863,906 (GRCm39)	missense	unknown
R1922:Hsd17b12	UTSW	2	93,875,737 (GRCm39)	missense	probably benign	0.00
R2384:Hsd17b12	UTSW	2	93,863,964 (GRCm39)	missense	probably benign
R3123:Hsd17b12	UTSW	2	93,864,303 (GRCm39)	missense	probably benign	0.03
R3124:Hsd17b12	UTSW	2	93,864,303 (GRCm39)	missense	probably benign	0.03
R3125:Hsd17b12	UTSW	2	93,864,303 (GRCm39)	missense	probably benign	0.03
R4283:Hsd17b12	UTSW	2	93,863,931 (GRCm39)	missense	unknown
R5218:Hsd17b12	UTSW	2	93,913,608 (GRCm39)	missense	probably benign	0.02
R5357:Hsd17b12	UTSW	2	93,863,990 (GRCm39)	missense	possibly damaging	0.47
R6020:Hsd17b12	UTSW	2	93,864,322 (GRCm39)	missense	probably damaging	1.00
R6493:Hsd17b12	UTSW	2	93,874,228 (GRCm39)	missense	probably damaging	1.00
R7792:Hsd17b12	UTSW	2	93,863,986 (GRCm39)	missense	probably benign	0.00
R8769:Hsd17b12	UTSW	2	93,945,397 (GRCm39)	missense	probably damaging	0.97
R9651:Hsd17b12	UTSW	2	93,988,081 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAAGCCTATCTGCCACCTTC -3'
(R):5'- GATAGCATGTCTCTCCCACTG -3'

Sequencing Primer
(F):5'- GGATTAAAGATGTGTACCACTTTGTC -3'
(R):5'- CTGCTCTAAAGATGTGAACTCCAG -3'

Posted On

2014-10-02