Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Hsd17b8'

175230

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

039604-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34026033-34028060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34027495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 105 (V105I)

Ref Sequence

ENSEMBL: ENSMUSP00000133546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000116612] [ENSMUST00000169397] [ENSMUST00000171872] [ENSMUST00000173354] [ENSMUST00000173554]

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 benign
Transcript: ENSMUST00000045467
AA Change: V98I

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: V98I

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

possibly damaging
Transcript: ENSMUST00000114303
AA Change: V105I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
AA Change: V105I

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

probably benign
Transcript: ENSMUST00000116612

SMART Domains

Protein: ENSMUSP00000112311
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	377	1.35e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168978

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: ENSMUST00000170491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

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

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

probably benign
Transcript: ENSMUST00000173354

SMART Domains

Protein: ENSMUSP00000133661
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.3e-10	PFAM
ZnF_C4	79	150	3.98e-39	SMART
low complexity region	159	172	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
HOLI	218	381	1.91e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174299

SMART Domains

Protein: ENSMUSP00000133775
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	25	52	N/A	INTRINSIC
low complexity region	55	78	N/A	INTRINSIC
low complexity region	110	117	N/A	INTRINSIC
ZnF_C4	120	191	3.98e-39	SMART
low complexity region	200	213	N/A	INTRINSIC
low complexity region	236	247	N/A	INTRINSIC
HOLI	259	418	1.35e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173554

SMART Domains

Protein: ENSMUSP00000134299
Gene: ENSMUSG00000039656

Domain	Start	End	E-Value	Type
Pfam:Nuc_recep-AF1	2	76	4.9e-11	PFAM
ZnF_C4	79	150	3.98e-39	SMART

Meta Mutation Damage Score

0.1356

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,880,501 (GRCm38)	G270S	probably benign	Het
Abtb1	T	C	6: 88,836,554 (GRCm38)	T401A	probably benign	Het
Adamts14	A	T	10: 61,270,897 (GRCm38)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,268,957 (GRCm38)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,757,318 (GRCm38)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,768,401 (GRCm38)	D168V	probably damaging	Het
Clpb	G	A	7: 101,785,461 (GRCm38)	R488Q	probably benign	Het
Cltrn	A	G	X: 164,118,234 (GRCm38)	D184G	possibly damaging	Het
Cpxm2	A	T	7: 132,062,145 (GRCm38)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,303,160 (GRCm38)	*406R	probably null	Het
Dnah10	T	A	5: 124,829,614 (GRCm38)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,370,617 (GRCm38)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,602,595 (GRCm38)	*118Q	probably null	Het
Fam222b	T	C	11: 78,154,662 (GRCm38)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,171 (GRCm38)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm38)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,841,930 (GRCm38)	T631A	possibly damaging	Het
Gpld1	T	A	13: 24,956,068 (GRCm38)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,280,214 (GRCm38)	M188T	probably benign	Het
Grk5	T	C	19: 61,089,972 (GRCm38)	V489A	probably damaging	Het
Hpdl	T	C	4: 116,820,883 (GRCm38)	N127S	probably damaging	Het
Id4	G	T	13: 48,262,294 (GRCm38)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 52,956,881 (GRCm38)	G802V	probably benign	Het
Lamc1	C	A	1: 153,242,743 (GRCm38)	S894I	probably benign	Het
Larp1b	A	G	3: 40,972,384 (GRCm38)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,519,821 (GRCm38)	S226T	probably benign	Het
Lmo7	A	T	14: 101,887,521 (GRCm38)	Q472L	probably damaging	Het
Mog	G	C	17: 37,017,582 (GRCm38)	N152K	possibly damaging	Het
Mttp	A	G	3: 138,116,405 (GRCm38)		probably null	Het
Mycbp2	A	G	14: 103,252,509 (GRCm38)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,340,280 (GRCm38)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,315,192 (GRCm38)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,132,201 (GRCm38)		probably null	Het
Nlrc4	A	T	17: 74,441,931 (GRCm38)	D771E	probably benign	Het
Nup160	A	T	2: 90,722,061 (GRCm38)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 120,862,600 (GRCm38)	N91I	probably damaging	Het
Or13p4	T	A	4: 118,690,192 (GRCm38)	N87Y	probably damaging	Het
Or4c120	A	T	2: 89,170,627 (GRCm38)	V195D	probably benign	Het
Or4c121	G	T	2: 89,193,883 (GRCm38)	S50R	probably damaging	Het
Parp4	T	C	14: 56,589,872 (GRCm38)		probably benign	Het
Pi4ka	G	A	16: 17,281,900 (GRCm38)	C96Y	probably null	Het
Pira2	A	T	7: 3,844,549 (GRCm38)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,347,457 (GRCm38)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,940,526 (GRCm38)	T394I	probably damaging	Het
Pramel22	G	A	4: 143,655,617 (GRCm38)	Q170*	probably null	Het
Psmd1	T	C	1: 86,091,997 (GRCm38)		probably benign	Het
Rab3ip	A	T	10: 116,939,223 (GRCm38)	C77S	probably benign	Het
Reln	A	T	5: 21,925,213 (GRCm38)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,073,946 (GRCm38)	T59A	probably benign	Het
Ric8b	G	T	10: 84,980,099 (GRCm38)	V405L	probably benign	Het
Rufy3	G	T	5: 88,640,632 (GRCm38)	A479S	probably damaging	Het
Sardh	A	T	2: 27,242,719 (GRCm38)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,934,408 (GRCm38)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 94,345,877 (GRCm38)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,327,370 (GRCm38)	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,950,090 (GRCm38)	T391S	probably benign	Het
Sumf2	C	A	5: 129,859,914 (GRCm38)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569 (GRCm38)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,596,041 (GRCm38)	S194T	possibly damaging	Het
Tnn	T	A	1: 160,097,265 (GRCm38)	Y1173F	probably damaging	Het
Top2a	A	G	11: 99,001,054 (GRCm38)	F1122L	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim39	G	A	17: 36,268,854 (GRCm38)	R70W	probably damaging	Het
Ttn	G	A	2: 76,794,261 (GRCm38)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,411,914 (GRCm38)	V373E	probably damaging	Het
Usp54	A	G	14: 20,607,159 (GRCm38)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,231,634 (GRCm38)	G51S	probably benign	Het
Xylt2	C	T	11: 94,667,594 (GRCm38)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,952,427 (GRCm38)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,777,088 (GRCm38)	P376L	probably benign	Het
Zfp251	T	A	15: 76,853,038 (GRCm38)	R613S	probably damaging	Het
Zfp251	C	T	15: 76,853,039 (GRCm38)	R613K	possibly damaging	Het
Zfp91	T	C	19: 12,779,075 (GRCm38)	D135G	probably benign	Het

Other mutations in Hsd17b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Hsd17b8	APN	17	34,026,861 (GRCm38)	missense	probably damaging	0.97
R1419:Hsd17b8	UTSW	17	34,027,643 (GRCm38)	missense	probably benign	0.01
R2017:Hsd17b8	UTSW	17	34,026,213 (GRCm38)	missense	probably damaging	0.96
R3802:Hsd17b8	UTSW	17	34,026,467 (GRCm38)	missense	probably damaging	1.00
R3803:Hsd17b8	UTSW	17	34,026,467 (GRCm38)	missense	probably damaging	1.00
R4988:Hsd17b8	UTSW	17	34,027,288 (GRCm38)	missense	probably damaging	1.00
R5081:Hsd17b8	UTSW	17	34,027,578 (GRCm38)	unclassified	probably benign
R5164:Hsd17b8	UTSW	17	34,026,978 (GRCm38)	unclassified	probably benign
R5447:Hsd17b8	UTSW	17	34,026,912 (GRCm38)	missense	probably damaging	1.00
R5475:Hsd17b8	UTSW	17	34,027,313 (GRCm38)	unclassified	probably benign
R5667:Hsd17b8	UTSW	17	34,026,461 (GRCm38)	missense	probably null	1.00
R5671:Hsd17b8	UTSW	17	34,026,461 (GRCm38)	missense	probably null	1.00
R6052:Hsd17b8	UTSW	17	34,027,455 (GRCm38)	missense	probably damaging	1.00
R6833:Hsd17b8	UTSW	17	34,027,217 (GRCm38)	missense	probably damaging	1.00
R6834:Hsd17b8	UTSW	17	34,027,217 (GRCm38)	missense	probably damaging	1.00
R7853:Hsd17b8	UTSW	17	34,027,437 (GRCm38)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- ATGTTGATGATGGAGCCACGACC -3'
(R):5'- TGAGTTTCAGTAACTTTGCGCCCC -3'

Sequencing Primer
(F):5'- CACTGGACACTAAAGCCTGG -3'
(R):5'- TGCCTTCCAAGCGGATGTG -3'

Posted On

2014-04-24