Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Hsd17b8'

274455

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b8

Ensembl Gene

ENSMUSG00000073422

Gene Name

hydroxysteroid 17-beta dehydrogenase 8

Synonyms

H2-Ke6, Ring2, H-2Ke6

MMRRC Submission

040878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34245007-34247029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34245441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 231 (V231E)

Ref Sequence

ENSEMBL: ENSMUSP00000038069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000171872] [ENSMUST00000169397]

AlphaFold

P50171

Predicted Effect

probably benign
Transcript: ENSMUST00000025183

SMART Domains

Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325

Domain	Start	End	E-Value	Type
RING	48	87	7.92e-8	SMART
low complexity region	171	229	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
Pfam:RAWUL	272	400	4.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025186

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	2.4e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000045467
AA Change: V231E

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

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: V231E

Domain	Start	End	E-Value	Type
Pfam:KR	10	201	1.5e-16	PFAM
Pfam:adh_short	10	213	4.5e-52	PFAM
Pfam:adh_short_C2	16	258	8.6e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083621

Predicted Effect

probably benign
Transcript: ENSMUST00000114303

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	202	5.5e-16	PFAM
Pfam:adh_short	22	193	2.7e-30	PFAM
Pfam:adh_short_C2	23	234	1.4e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

probably benign
Transcript: ENSMUST00000171872

SMART Domains

Protein: ENSMUSP00000133146
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	246	4.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169397

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	1.9e-81	PFAM

Meta Mutation Damage Score

0.6994

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,033 (GRCm39)	N1263S	probably benign	Het
Alpk1	A	C	3: 127,473,486 (GRCm39)	V839G	possibly damaging	Het
Als2	A	C	1: 59,206,358 (GRCm39)	M1634R	probably damaging	Het
Aox1	T	A	1: 58,329,058 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Arhgap24	T	C	5: 103,040,308 (GRCm39)	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,165,386 (GRCm39)	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Clstn1	A	G	4: 149,719,796 (GRCm39)	H437R	probably damaging	Het
Col1a1	A	G	11: 94,828,895 (GRCm39)	E79G	unknown	Het
Cspp1	C	A	1: 10,196,598 (GRCm39)	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,763,858 (GRCm39)	S217P	possibly damaging	Het
Ddx50	C	A	10: 62,475,723 (GRCm39)	V333F	probably damaging	Het
Dnai2	A	G	11: 114,629,551 (GRCm39)	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293 (GRCm39)	H4236Q	probably benign	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,528,753 (GRCm39)	Y499F	probably damaging	Het
Fa2h	A	G	8: 112,082,030 (GRCm39)		probably null	Het
Fads2b	A	T	2: 85,338,682 (GRCm39)		probably null	Het
Gli1	T	A	10: 127,173,934 (GRCm39)		probably benign	Het
Gm14403	A	G	2: 177,200,569 (GRCm39)	S172G	probably benign	Het
Grhl1	C	T	12: 24,634,918 (GRCm39)	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Helz2	A	G	2: 180,881,789 (GRCm39)	F335L	probably damaging	Het
Hr	G	A	14: 70,795,333 (GRCm39)	A322T	probably benign	Het
Iapp	A	G	6: 142,249,151 (GRCm39)	N68S	probably benign	Het
Kctd4	A	T	14: 76,200,726 (GRCm39)	L232F	probably benign	Het
Kdm5b	A	G	1: 134,543,679 (GRCm39)	I783V	probably benign	Het
Larp4b	T	A	13: 9,208,590 (GRCm39)	N414K	probably benign	Het
Ldb2	T	C	5: 44,630,736 (GRCm39)	E337G	probably benign	Het
Lgr4	A	G	2: 109,838,542 (GRCm39)	K498E	probably benign	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,183,992 (GRCm39)		probably benign	Het
Ndrg2	C	A	14: 52,148,132 (GRCm39)		probably null	Het
Ndufaf3	C	A	9: 108,444,092 (GRCm39)	R12L	probably benign	Het
Nol4	A	T	18: 22,828,012 (GRCm39)	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,876 (GRCm39)	A257T	probably damaging	Het
Nrg3	G	A	14: 38,098,391 (GRCm39)	P496S	probably damaging	Het
Or4g17	A	T	2: 111,209,638 (GRCm39)	M98L	possibly damaging	Het
Or51a7	T	C	7: 102,615,228 (GRCm39)		probably null	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Pclo	C	T	5: 14,565,416 (GRCm39)	Q61*	probably null	Het
Phf19	A	G	2: 34,789,670 (GRCm39)	L350P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,356,531 (GRCm39)	L332P	probably benign	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Rgl3	A	G	9: 21,887,321 (GRCm39)	I500T	probably damaging	Het
Rgs7	T	A	1: 175,016,785 (GRCm39)	I62F	probably benign	Het
Rttn	A	G	18: 88,995,831 (GRCm39)	N205D	probably damaging	Het
Samd8	G	A	14: 21,825,133 (GRCm39)	V30M	probably damaging	Het
Scn7a	G	A	2: 66,510,590 (GRCm39)	Q1271*	probably null	Het
Skor1	A	G	9: 63,052,868 (GRCm39)	V339A	probably benign	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,200,295 (GRCm39)	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,555,150 (GRCm39)	K80N	probably benign	Het
Stc1	T	C	14: 69,275,924 (GRCm39)	I239T	probably benign	Het
Steap4	G	T	5: 8,026,979 (GRCm39)	R314L	probably damaging	Het
Suclg2	A	T	6: 95,474,649 (GRCm39)	I372N	probably damaging	Het
Trav7d-4	A	T	14: 53,007,575 (GRCm39)	K23*	probably null	Het
Ttn	A	G	2: 76,641,075 (GRCm39)	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 9,907,439 (GRCm39)	S96P	probably damaging	Het
Wdr25	T	C	12: 108,864,479 (GRCm39)	V208A	probably damaging	Het
Wdr27	C	T	17: 15,138,371 (GRCm39)	V360M	probably benign	Het
Zfp54	T	C	17: 21,653,814 (GRCm39)	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,051,256 (GRCm39)	E679G	probably damaging	Het
Zfp846	A	G	9: 20,505,735 (GRCm39)	I532V	probably benign	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	Het

Other mutations in Hsd17b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Hsd17b8	APN	17	34,245,835 (GRCm39)	missense	probably damaging	0.97
R1419:Hsd17b8	UTSW	17	34,246,617 (GRCm39)	missense	probably benign	0.01
R1565:Hsd17b8	UTSW	17	34,246,469 (GRCm39)	missense	possibly damaging	0.87
R2017:Hsd17b8	UTSW	17	34,245,187 (GRCm39)	missense	probably damaging	0.96
R3802:Hsd17b8	UTSW	17	34,245,441 (GRCm39)	missense	probably damaging	1.00
R4988:Hsd17b8	UTSW	17	34,246,262 (GRCm39)	missense	probably damaging	1.00
R5081:Hsd17b8	UTSW	17	34,246,552 (GRCm39)	unclassified	probably benign
R5164:Hsd17b8	UTSW	17	34,245,952 (GRCm39)	unclassified	probably benign
R5447:Hsd17b8	UTSW	17	34,245,886 (GRCm39)	missense	probably damaging	1.00
R5475:Hsd17b8	UTSW	17	34,246,287 (GRCm39)	unclassified	probably benign
R5667:Hsd17b8	UTSW	17	34,245,435 (GRCm39)	missense	probably null	1.00
R5671:Hsd17b8	UTSW	17	34,245,435 (GRCm39)	missense	probably null	1.00
R6052:Hsd17b8	UTSW	17	34,246,429 (GRCm39)	missense	probably damaging	1.00
R6833:Hsd17b8	UTSW	17	34,246,191 (GRCm39)	missense	probably damaging	1.00
R6834:Hsd17b8	UTSW	17	34,246,191 (GRCm39)	missense	probably damaging	1.00
R7853:Hsd17b8	UTSW	17	34,246,411 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- AAAGAAGGGATGTCTGCTCTG -3'
(R):5'- ATGATTCCGTTGGGACACATGG -3'

Sequencing Primer
(F):5'- GCCTCATACCACTGACTTC -3'
(R):5'- GGTCGCACAGGGATTAAT -3'

Posted On

2015-04-02