Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01763:Hsd17b8'

153598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd17b8

Ensembl Gene

ENSMUSG00000073422

Gene Name

hydroxysteroid 17-beta dehydrogenase 8

Synonyms

H2-Ke6, Ring2, H-2Ke6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01763

Quality Score

Status

Chromosome

Chromosomal Location

34245007-34247029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34245835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000133546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000044858] [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 benign
Transcript: ENSMUST00000044858

SMART Domains

Protein: ENSMUSP00000036585
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	66	85	N/A	INTRINSIC
low complexity region	94	121	N/A	INTRINSIC
low complexity region	124	147	N/A	INTRINSIC
low complexity region	179	186	N/A	INTRINSIC
ZnF_C4	189	260	3.98e-39	SMART
low complexity region	269	282	N/A	INTRINSIC
low complexity region	305	316	N/A	INTRINSIC
HOLI	328	491	1.91e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000045467
AA Change: V212A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: V212A

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 damaging
Transcript: ENSMUST00000114303
AA Change: V219A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
AA Change: V219A

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: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	C	T	7: 97,915,339 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,414,943 (GRCm39)	E244G	probably benign	Het
Cdh20	T	C	1: 109,993,520 (GRCm39)	I325T	probably benign	Het
Dennd2c	T	C	3: 103,064,224 (GRCm39)	L623P	probably damaging	Het
Eef1akmt3	T	C	10: 126,876,952 (GRCm39)	D65G	probably benign	Het
Gimap3	T	A	6: 48,742,430 (GRCm39)	S167C	probably damaging	Het
Gm12185	A	T	11: 48,806,671 (GRCm39)	F173L	probably benign	Het
Gm5611	A	G	9: 16,941,699 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,144,820 (GRCm39)	S387P	probably benign	Het
Mtfr2	G	A	10: 20,228,683 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,177,245 (GRCm39)	K437R	probably benign	Het
Myo15a	A	G	11: 60,412,564 (GRCm39)	D3335G	probably benign	Het
Ndufaf7	C	T	17: 79,253,771 (GRCm39)	T323I	possibly damaging	Het
Or5g29	A	G	2: 85,421,691 (GRCm39)	N269S	probably benign	Het
Pcdh15	T	C	10: 74,046,293 (GRCm39)	V190A	probably benign	Het
Pdzd2	A	G	15: 12,372,632 (GRCm39)	V2501A	probably benign	Het
Piwil4	A	T	9: 14,617,562 (GRCm39)		probably null	Het
Plxnb2	C	T	15: 89,046,184 (GRCm39)		probably null	Het
Sgcd	A	G	11: 47,085,856 (GRCm39)		probably null	Het
Sin3b	A	G	8: 73,473,236 (GRCm39)	K519E	probably damaging	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Spty2d1	T	C	7: 46,649,596 (GRCm39)	D33G	probably damaging	Het
Txnrd3	C	T	6: 89,638,537 (GRCm39)	T242I	probably damaging	Het
Vps13b	A	G	15: 35,709,945 (GRCm39)	D1964G	possibly damaging	Het
Wdr24	A	G	17: 26,045,164 (GRCm39)	T300A	probably benign	Het
Zc2hc1c	C	A	12: 85,336,450 (GRCm39)	Q36K	probably benign	Het
Zfp719	A	T	7: 43,233,613 (GRCm39)	I11F	probably benign	Het

Other mutations in Hsd17b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3803: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

Posted On

2014-02-04