Mutagenetix > Incidental Mutation

Incidental Mutation 'R6833:Hsd17b8'

534463

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

044942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34245007-34247029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34246191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 161 (S161G)

Ref Sequence

ENSEMBL: ENSMUSP00000133546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000044858] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000169397] [ENSMUST00000171872] [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 damaging
Transcript: ENSMUST00000045467
AA Change: S154G

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

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
AA Change: S154G

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

probably damaging
Transcript: ENSMUST00000114303
AA Change: S161G

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

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
AA Change: S161G

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: 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

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: 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

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

Meta Mutation Damage Score

0.6953

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

96% (54/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,658,733 (GRCm39)	W215R	probably damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Alpk2	T	C	18: 65,439,480 (GRCm39)	K1105E	probably benign	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
Ccdc122	G	T	14: 77,326,371 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,429,419 (GRCm39)		probably null	Het
Dcaf10	T	C	4: 45,373,043 (GRCm39)	C95R	probably damaging	Het
Dcxr	A	G	11: 120,616,917 (GRCm39)	Y149H	probably damaging	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Dnhd1	T	A	7: 105,352,580 (GRCm39)	C2578S	probably benign	Het
Dnttip2	T	C	3: 122,070,452 (GRCm39)	S556P	probably damaging	Het
Efr3a	T	G	15: 65,714,535 (GRCm39)	V301G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Enpp3	T	A	10: 24,685,768 (GRCm39)	H44L	probably damaging	Het
Fam120a	A	G	13: 49,087,517 (GRCm39)	V281A	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Ferd3l	G	A	12: 33,978,537 (GRCm39)	V17I	probably damaging	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gm9195	T	C	14: 72,671,856 (GRCm39)	T2586A	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lgals7	G	A	7: 28,565,087 (GRCm39)	R75Q	probably damaging	Het
Lpcat3	A	G	6: 124,676,974 (GRCm39)	Y124C	probably damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Mro	G	T	18: 73,997,003 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,955,773 (GRCm39)		probably null	Het
Myh14	T	A	7: 44,273,803 (GRCm39)	K1356*	probably null	Het
Myo5b	A	C	18: 74,903,396 (GRCm39)	Q1804P	probably benign	Het
Nol10	A	G	12: 17,402,728 (GRCm39)	I67V	probably benign	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Pmfbp1	T	C	8: 110,265,307 (GRCm39)		probably null	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Poglut3	A	G	9: 53,303,308 (GRCm39)	I67V	possibly damaging	Het
Prap1	C	A	7: 139,674,995 (GRCm39)	A20E	possibly damaging	Het
Prox1	G	A	1: 189,892,975 (GRCm39)	A490V	probably damaging	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Sema3b	T	A	9: 107,480,515 (GRCm39)	E144V	probably benign	Het
Sft2d1	C	T	17: 8,537,707 (GRCm39)	T32I	possibly damaging	Het
Smpd2	C	T	10: 41,364,442 (GRCm39)	A160T	probably damaging	Het
Stard9	G	T	2: 120,531,740 (GRCm39)	V2666F	probably damaging	Het
Syt7	T	A	19: 10,421,508 (GRCm39)	M400K	probably damaging	Het
Thoc5	T	C	11: 4,869,804 (GRCm39)	L402P	probably damaging	Het
Tinf2	A	T	14: 55,919,037 (GRCm39)	M1K	probably null	Het
Ttc21a	A	G	9: 119,771,701 (GRCm39)	I167V	probably benign	Het
Vldlr	T	C	19: 27,217,974 (GRCm39)	L474P	probably damaging	Het
Xirp2	T	C	2: 67,340,294 (GRCm39)	V845A	probably benign	Het
Zdhhc7	A	T	8: 120,811,663 (GRCm39)	M180K	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	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
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
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'- CAATCACTCCTGCTTTGGACG -3'
(R):5'- CCACATGTCAGAAGAAGACTGG -3'

Sequencing Primer
(F):5'- GCTTTGGACGACGCATAATTC -3'
(R):5'- CTCAAGGTGGTGATCTCTAAACCTG -3'

Posted On

2018-09-12