Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Hsd17b6'

197464

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b6

Ensembl Gene

ENSMUSG00000025396

Gene Name

hydroxysteroid (17-beta) dehydrogenase 6

Synonyms

Rdh8, 17betaHSD9, Hsd17b9

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127990936-128007611 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 127994327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026462] [ENSMUST00000026462] [ENSMUST00000219183] [ENSMUST00000219447] [ENSMUST00000219707] [ENSMUST00000219780] [ENSMUST00000219953]

AlphaFold

Q9R092

Predicted Effect

probably null
Transcript: ENSMUST00000026462

SMART Domains

Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	222	6.2e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000026462

SMART Domains

Protein: ENSMUSP00000026462
Gene: ENSMUSG00000025396

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	222	6.2e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000219183

Predicted Effect

probably null
Transcript: ENSMUST00000219447

Predicted Effect

probably benign
Transcript: ENSMUST00000219707

Predicted Effect

probably benign
Transcript: ENSMUST00000219780

Predicted Effect

probably benign
Transcript: ENSMUST00000219953

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	Het

Other mutations in Hsd17b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Hsd17b6	APN	10	127997908	missense	probably damaging	1.00
IGL03380:Hsd17b6	APN	10	127994338	splice site	probably null
IGL03399:Hsd17b6	APN	10	127993756	missense	probably benign	0.00
R0277:Hsd17b6	UTSW	10	127991405	missense	probably benign	0.05
R1731:Hsd17b6	UTSW	10	127994479	missense	possibly damaging	0.79
R4357:Hsd17b6	UTSW	10	127993768	splice site	probably null
R4668:Hsd17b6	UTSW	10	127994426	splice site	probably null
R4824:Hsd17b6	UTSW	10	127993655	missense	probably benign
R5390:Hsd17b6	UTSW	10	127991439	missense	probably benign
R5976:Hsd17b6	UTSW	10	127991439	missense	probably benign
R6382:Hsd17b6	UTSW	10	127991327	missense	probably damaging	0.97
R6442:Hsd17b6	UTSW	10	127993767	splice site	probably null
R7367:Hsd17b6	UTSW	10	127993623	missense	probably benign	0.02
R7597:Hsd17b6	UTSW	10	127991358	missense	probably benign	0.25
R7913:Hsd17b6	UTSW	10	127997776	missense	possibly damaging	0.60
R8719:Hsd17b6	UTSW	10	127993623	missense	possibly damaging	0.93
R9103:Hsd17b6	UTSW	10	127998007	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCTCCCAGGTTCAATTATGCTGAC -3'
(R):5'- CCTCATTGGTTTGACCCAGGTGAC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TTGACCCAGGTGACTATAAGC -3'

Posted On

2014-05-23