Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Hsd17b12'

301471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b12

Ensembl Gene

ENSMUSG00000027195

Gene Name

hydroxysteroid (17-beta) dehydrogenase 12

Synonyms

2610510O05Rik, keratoadhesin, KIK-I, keratonectin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

93863042-93988254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93913556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 116 (D116V)

Ref Sequence

ENSEMBL: ENSMUSP00000028619 (fasta)

Gene Model

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

AlphaFold

O70503

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028619
AA Change: D116V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: D116V

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	C	12: 112,381,586 (GRCm39)		noncoding transcript	Het
Abcc12	C	T	8: 87,236,311 (GRCm39)		probably benign	Het
Akap9	T	C	5: 4,120,500 (GRCm39)	S3639P	possibly damaging	Het
Ankar	C	T	1: 72,691,590 (GRCm39)	V1124I	possibly damaging	Het
AW209491	C	T	13: 14,811,852 (GRCm39)	A235V	possibly damaging	Het
Cask	A	T	X: 13,581,009 (GRCm39)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,870,070 (GRCm39)	M25K	probably benign	Het
Clasp2	A	G	9: 113,737,910 (GRCm39)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,433,427 (GRCm39)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,365,902 (GRCm39)	L693P	probably damaging	Het
Golgb1	G	T	16: 36,735,375 (GRCm39)	V1541L	probably benign	Het
Gpr143	G	A	X: 151,591,257 (GRCm39)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,005,017 (GRCm39)	V253I	probably benign	Het
Gsap	T	A	5: 21,494,814 (GRCm39)	W10R	probably damaging	Het
Ifih1	A	T	2: 62,442,173 (GRCm39)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,083,615 (GRCm39)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,502,459 (GRCm39)	M112L	probably benign	Het
Lrrc59	T	A	11: 94,534,282 (GRCm39)	V280E	probably damaging	Het
Med17	A	T	9: 15,185,845 (GRCm39)	I223K	probably damaging	Het
Oog3	T	C	4: 143,884,715 (GRCm39)	N407S	probably damaging	Het
Or4e1	T	C	14: 52,701,251 (GRCm39)	I72V	probably damaging	Het
Pear1	T	C	3: 87,657,453 (GRCm39)	*1035W	probably null	Het
Pkd1	T	A	17: 24,791,785 (GRCm39)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,135,842 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,631 (GRCm39)	E888G	probably benign	Het
Prh1	G	A	6: 132,549,246 (GRCm39)	G251E	unknown	Het
Prkar2a	A	G	9: 108,605,476 (GRCm39)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,592,122 (GRCm39)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,505,739 (GRCm39)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,067,898 (GRCm39)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,020,133 (GRCm39)	N382K	possibly damaging	Het
Snrnp48	T	G	13: 38,393,845 (GRCm39)		probably benign	Het
Spg11	T	C	2: 121,943,549 (GRCm39)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,500,685 (GRCm39)	D625G	probably benign	Het
Supt6	T	C	11: 78,103,565 (GRCm39)	H1380R	probably damaging	Het
Tcp1	T	A	17: 13,142,296 (GRCm39)	M430K	probably benign	Het
Tlr12	A	T	4: 128,510,609 (GRCm39)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,505,195 (GRCm39)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,923,981 (GRCm39)	R735G	probably damaging	Het
Trpm1	A	G	7: 63,848,972 (GRCm39)	T73A	probably benign	Het
Ubr3	A	T	2: 69,850,827 (GRCm39)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,136,286 (GRCm39)	N282S	possibly damaging	Het
Zdhhc12	T	A	2: 29,983,531 (GRCm39)	I24F	probably 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
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
R2190:Hsd17b12	UTSW	2	93,864,408 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16