Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:Hsd17b12'

213122

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

039940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93863042-93988254 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93875737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 196 (V196A)

Ref Sequence

ENSEMBL: ENSMUSP00000028619 (fasta)

Gene Model

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

AlphaFold

O70503

Predicted Effect

probably benign
Transcript: ENSMUST00000028619
AA Change: V196A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028619
Gene: ENSMUSG00000027195
AA Change: V196A

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: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,359,083 (GRCm39)	N574K	probably benign	Het
Adcy9	A	T	16: 4,129,521 (GRCm39)	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Amy1	T	A	3: 113,358,544 (GRCm39)	I163F	probably damaging	Het
Aoc1l2	A	C	6: 48,908,220 (GRCm39)	I407L	probably benign	Het
Armc5	A	G	7: 127,839,677 (GRCm39)	S332G	probably benign	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Chrna1	A	G	2: 73,398,576 (GRCm39)	S288P	probably damaging	Het
Cpe	T	A	8: 65,070,723 (GRCm39)	D174V	probably benign	Het
Dclre1c	T	C	2: 3,441,819 (GRCm39)	F235L	possibly damaging	Het
Ddx20	A	T	3: 105,585,900 (GRCm39)	V815D	probably damaging	Het
Dhx9	T	C	1: 153,336,020 (GRCm39)		probably null	Het
Dmxl2	A	C	9: 54,308,807 (GRCm39)	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,450,603 (GRCm39)	D293A	probably damaging	Het
Eif2a	C	T	3: 58,455,951 (GRCm39)	R317C	probably damaging	Het
Fancc	A	G	13: 63,478,381 (GRCm39)	V318A	possibly damaging	Het
Fes	A	T	7: 80,033,734 (GRCm39)	Y172*	probably null	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Glul	G	A	1: 153,783,070 (GRCm39)	M214I	probably benign	Het
Gm14496	A	G	2: 181,642,797 (GRCm39)	I823V	probably benign	Het
Gm6665	T	C	18: 31,953,318 (GRCm39)	N50S	probably benign	Het
Gm6729	T	C	10: 86,376,782 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,408,350 (GRCm39)	C299S	probably damaging	Het
Hapln2	T	A	3: 87,930,684 (GRCm39)	N196Y	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Kansl1	A	T	11: 104,234,466 (GRCm39)	L680Q	probably damaging	Het
Kcna3	T	C	3: 106,945,251 (GRCm39)	S505P	possibly damaging	Het
Klra1	A	C	6: 130,349,828 (GRCm39)	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,559,822 (GRCm39)	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,343,195 (GRCm39)	P1696T	probably damaging	Het
Mecom	T	C	3: 30,011,591 (GRCm39)	D647G	probably damaging	Het
Mn1	A	G	5: 111,566,612 (GRCm39)	D194G	probably damaging	Het
Muc5ac	A	G	7: 141,347,426 (GRCm39)	N407S	probably benign	Het
Mx2	C	T	16: 97,361,551 (GRCm39)	R584C	probably benign	Het
Myo1c	A	G	11: 75,559,055 (GRCm39)	R597G	probably benign	Het
Nav3	T	C	10: 109,541,467 (GRCm39)	D1932G	probably benign	Het
Nwd2	T	A	5: 63,951,585 (GRCm39)	D205E	probably benign	Het
Obi1	T	C	14: 104,716,622 (GRCm39)	K584E	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Osmr	T	C	15: 6,873,848 (GRCm39)	E183G	possibly damaging	Het
Peak1	A	T	9: 56,113,971 (GRCm39)	W627R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 106,105,017 (GRCm39)	L560Q	probably damaging	Het
Prg4	C	T	1: 150,325,750 (GRCm39)	W1217*	probably null	Het
Prkdc	A	G	16: 15,532,130 (GRCm39)	I1465V	probably benign	Het
Pus1	A	G	5: 110,925,505 (GRCm39)	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,206 (GRCm39)	S154P	probably damaging	Het
Rhbdl1	C	T	17: 26,054,513 (GRCm39)	G211S	probably damaging	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Sash1	T	A	10: 8,603,672 (GRCm39)	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,901,577 (GRCm39)	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,293,624 (GRCm39)	V587E	probably benign	Het
Slc38a2	A	G	15: 96,589,043 (GRCm39)	F454L	possibly damaging	Het
Sprn	A	T	7: 139,733,458 (GRCm39)		probably benign	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,468,564 (GRCm39)	E732G	probably damaging	Het
Tnfaip3	A	G	10: 18,879,355 (GRCm39)	F671S	possibly damaging	Het
Tor1aip2	C	A	1: 155,940,540 (GRCm39)	P282Q	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,789 (GRCm39)	F46Y	probably damaging	Het
Ttn	A	G	2: 76,564,494 (GRCm39)	S28548P	probably damaging	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Usp32	A	T	11: 84,897,830 (GRCm39)	C1170*	probably null	Het
Usp54	G	T	14: 20,610,972 (GRCm39)	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,898,296 (GRCm39)	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,523,771 (GRCm39)	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGACACTCCAGAAACC -3'
(R):5'- GAATTACGCTTCATTCACCGG -3'

Sequencing Primer
(F):5'- GTGACACTCCAGAAACCCATGTG -3'
(R):5'- TACCAACTGCTCATGAGAAGCAGG -3'

Posted On

2014-07-14