Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Hsd17b12'

478847

Institutional Source

Beutler Lab

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 #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93863042-93988254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93864322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 262 (T262A)

Ref Sequence

ENSEMBL: ENSMUSP00000028619 (fasta)

Gene Model

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

AlphaFold

O70503

Predicted Effect

probably damaging
Transcript: ENSMUST00000028619
AA Change: T262A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: T262A

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,036,439 (GRCm39)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,732,851 (GRCm39)	L41*	probably null	Het
Actn1	C	A	12: 80,221,229 (GRCm39)		probably null	Het
Adamts15	G	T	9: 30,813,358 (GRCm39)	R936S	probably benign	Het
Angel2	T	C	1: 190,665,068 (GRCm39)	S22P	probably benign	Het
Ank2	T	G	3: 126,740,470 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,337,563 (GRCm39)	D423G	probably damaging	Het
Casp9	A	G	4: 141,523,849 (GRCm39)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,940,887 (GRCm39)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,730,506 (GRCm39)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,167,105 (GRCm39)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,437,440 (GRCm39)	W335R	probably benign	Het
Ddr2	T	A	1: 169,832,671 (GRCm39)	I130F	probably benign	Het
Dnah2	C	T	11: 69,391,665 (GRCm39)	A677T	probably benign	Het
Dzip3	C	A	16: 48,772,205 (GRCm39)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,040,763 (GRCm39)	I637S	probably damaging	Het
Etv3	A	G	3: 87,436,671 (GRCm39)	D142G	probably benign	Het
Fabp5	C	T	3: 10,081,149 (GRCm39)	T126I	probably benign	Het
Fam13b	A	C	18: 34,627,827 (GRCm39)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,822,471 (GRCm39)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,674,905 (GRCm39)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,967,034 (GRCm39)	K57E	probably benign	Het
Gm7334	A	G	17: 51,006,265 (GRCm39)	M184V	probably benign	Het
Gm9894	T	C	13: 67,911,954 (GRCm39)		noncoding transcript	Het
Gpd2	T	A	2: 57,254,525 (GRCm39)	N674K	probably benign	Het
H2-M10.6	A	G	17: 37,123,959 (GRCm39)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,931,110 (GRCm39)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,029,118 (GRCm39)	T57A	probably benign	Het
Hrg	A	T	16: 22,773,268 (GRCm39)	N134Y	probably damaging	Het
Irak3	G	T	10: 119,979,042 (GRCm39)	P470T	probably damaging	Het
Itgbl1	A	T	14: 124,083,977 (GRCm39)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,863 (GRCm39)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,272,589 (GRCm39)	M1157K	probably damaging	Het
Lcor	G	A	19: 41,571,986 (GRCm39)	G247D	possibly damaging	Het
Mdc1	G	A	17: 36,159,525 (GRCm39)	G635D	probably benign	Het
Mdc1	A	G	17: 36,168,464 (GRCm39)	K1690R	probably benign	Het
Mpp3	A	T	11: 101,909,365 (GRCm39)		probably benign	Het
Ncor2	G	T	5: 125,097,075 (GRCm39)	H2285N	probably benign	Het
Neb	T	A	2: 52,147,839 (GRCm39)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,161,483 (GRCm39)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,084,150 (GRCm39)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,437,355 (GRCm39)	Q191P	probably damaging	Het
Or14j10	A	T	17: 37,934,858 (GRCm39)	S223T	possibly damaging	Het
Or1e30	C	T	11: 73,678,378 (GRCm39)	L205F	probably benign	Het
Or51ag1	T	A	7: 103,156,006 (GRCm39)	H49L	probably benign	Het
Patl1	T	G	19: 11,914,718 (GRCm39)	L623R	probably damaging	Het
Pdc	T	C	1: 150,209,117 (GRCm39)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Pglyrp3	A	T	3: 91,938,841 (GRCm39)	I339F	probably damaging	Het
Plxnb1	T	C	9: 108,945,679 (GRCm39)	V2070A	probably damaging	Het
Poln	G	A	5: 34,266,775 (GRCm39)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,567,491 (GRCm39)	V218L	probably damaging	Het
Pygl	T	C	12: 70,263,428 (GRCm39)	D55G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rsrp1	T	C	4: 134,651,692 (GRCm39)	F152S	probably damaging	Het
Sim2	T	C	16: 93,898,110 (GRCm39)	S115P	probably damaging	Het
Slc17a1	T	A	13: 24,059,593 (GRCm39)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,189,054 (GRCm39)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,500,342 (GRCm39)	N69K	probably benign	Het
Slc51a	T	G	16: 32,298,584 (GRCm39)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,278,261 (GRCm39)	H448R	probably benign	Het
Smc3	G	A	19: 53,613,594 (GRCm39)		probably null	Het
Sox6	A	T	7: 115,085,863 (GRCm39)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tsr1	C	T	11: 74,791,119 (GRCm39)		probably null	Het
Ttc12	T	C	9: 49,354,422 (GRCm39)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,452,768 (GRCm39)	V386E	probably benign	Het
Ush2a	T	A	1: 188,460,293 (GRCm39)		probably null	Het
Usp5	C	A	6: 124,794,576 (GRCm39)		probably benign	Het
Vmn1r216	T	C	13: 23,284,105 (GRCm39)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,655,606 (GRCm39)	L606*	probably null	Het
Wee2	T	A	6: 40,426,554 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,519,159 (GRCm39)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,523,594 (GRCm39)	P120L	probably benign	Het
Zscan4-ps3	T	C	7: 11,344,228 (GRCm39)	F62S	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
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
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
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'- CAGGTATCACACTCAGTTTTGTAGC -3'

Sequencing Primer
(F):5'- AAAGCCTATCTGCCACCTTCTAATTC -3'
(R):5'- GTAGCCTTCCTAATCAATGGCATGTG -3'

Posted On

2017-06-26