Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Hsd17b1'

528765

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b1

Ensembl Gene

ENSMUSG00000019301

Gene Name

hydroxysteroid (17-beta) dehydrogenase 1

Synonyms

Hsd17ba, 17beta-HSD

MMRRC Submission

044819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100969237-100971353 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 100970981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 312 (C312*)

Ref Sequence

ENSEMBL: ENSMUSP00000019445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001802] [ENSMUST00000001806] [ENSMUST00000019445] [ENSMUST00000107308]

AlphaFold

P51656

Predicted Effect

probably benign
Transcript: ENSMUST00000001802

SMART Domains

Protein: ENSMUSP00000001802
Gene: ENSMUSG00000001751

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:NAGLU_N	28	114	4.8e-24	PFAM
Pfam:NAGLU	128	463	8.2e-150	PFAM
Pfam:NAGLU_C	471	731	4.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001806

SMART Domains

Protein: ENSMUSP00000001806
Gene: ENSMUSG00000001755

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_2	194	338	1.4e-11	PFAM
Pfam:CoaE	358	536	5.6e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000019445
AA Change: C312*

SMART Domains

Protein: ENSMUSP00000019445
Gene: ENSMUSG00000019301
AA Change: C312*

Domain	Start	End	E-Value	Type
Pfam:KR	4	174	3.5e-9	PFAM
Pfam:adh_short	4	200	1.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107308

SMART Domains

Protein: ENSMUSP00000102929
Gene: ENSMUSG00000001755

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	159	170	N/A	INTRINSIC
Pfam:CTP_transf_like	194	338	5.3e-11	PFAM
Pfam:CoaE	358	536	1.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151686

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe female subfertility with defects in leteunization and progesterone production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Ddx21	T	C	10: 62,426,470 (GRCm39)	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5g9	A	G	2: 85,552,675 (GRCm39)	K309E	probably benign	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,669,751 (GRCm39)	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,159,274 (GRCm39)	L327P	probably damaging	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,336,446 (GRCm39)		probably null	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	probably benign	Het

Other mutations in Hsd17b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Hsd17b1	APN	11	100,970,884 (GRCm39)	missense	possibly damaging	0.74
IGL01602:Hsd17b1	APN	11	100,969,755 (GRCm39)	missense	probably damaging	1.00
IGL01605:Hsd17b1	APN	11	100,969,755 (GRCm39)	missense	probably damaging	1.00
IGL03121:Hsd17b1	APN	11	100,970,870 (GRCm39)	nonsense	probably null
R2184:Hsd17b1	UTSW	11	100,969,357 (GRCm39)	missense	probably benign	0.05
R2237:Hsd17b1	UTSW	11	100,970,652 (GRCm39)	missense	probably damaging	1.00
R2239:Hsd17b1	UTSW	11	100,969,289 (GRCm39)	missense	probably damaging	1.00
R2380:Hsd17b1	UTSW	11	100,969,289 (GRCm39)	missense	probably damaging	1.00
R3777:Hsd17b1	UTSW	11	100,969,529 (GRCm39)	missense	probably damaging	1.00
R4469:Hsd17b1	UTSW	11	100,970,838 (GRCm39)	missense	probably benign
R5185:Hsd17b1	UTSW	11	100,971,024 (GRCm39)	missense	possibly damaging	0.49
R7108:Hsd17b1	UTSW	11	100,970,035 (GRCm39)	missense	probably damaging	1.00
R7396:Hsd17b1	UTSW	11	100,970,033 (GRCm39)	missense	probably damaging	1.00
R9171:Hsd17b1	UTSW	11	100,969,832 (GRCm39)	missense	probably damaging	1.00
R9462:Hsd17b1	UTSW	11	100,969,806 (GRCm39)	missense	possibly damaging	0.72
Z1177:Hsd17b1	UTSW	11	100,970,571 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGCTACTTCTCCACGAAC -3'
(R):5'- CCATGAAGATGCTGGCACTATTTC -3'

Sequencing Primer
(F):5'- GAACCGCTTCCTACCCCTGG -3'
(R):5'- GTGGTTGCACACATCTAAGGTCC -3'

Posted On

2018-07-24