Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Hsd3b1'

410523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd3b1

Ensembl Gene

ENSMUSG00000027871

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

Synonyms

D3Ertd383e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

98852194-98859794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98852985 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 230 (A230V)

Ref Sequence

ENSEMBL: ENSMUSP00000102630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029465] [ENSMUST00000107016]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029465
AA Change: A230V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: A230V

Domain	Start	End	E-Value	Type
Pfam:Epimerase	24	248	3.8e-23	PFAM
Pfam:NAD_binding_4	25	226	3.4e-18	PFAM
Pfam:Polysacc_synt_2	30	129	1.3e-8	PFAM
Pfam:3Beta_HSD	34	282	1.8e-102	PFAM
Pfam:NAD_binding_10	35	228	1.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107016
AA Change: A230V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: A230V

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	264	4.3e-8	PFAM
Pfam:KR	5	133	1.1e-7	PFAM
Pfam:Ldh_1_N	5	135	4.3e-7	PFAM
Pfam:Polysacc_synt_2	6	136	3e-14	PFAM
Pfam:NmrA	6	138	6.2e-10	PFAM
Pfam:Epimerase	6	250	2.9e-30	PFAM
Pfam:GDP_Man_Dehyd	7	216	6.6e-16	PFAM
Pfam:3Beta_HSD	7	288	2.1e-122	PFAM
Pfam:NAD_binding_4	8	219	4e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in Hsd3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Hsd3b1	APN	3	98853246	missense	probably damaging	1.00
IGL01955:Hsd3b1	APN	3	98853147	missense	probably benign	0.08
IGL02894:Hsd3b1	APN	3	98852929	missense	possibly damaging	0.88
R0265:Hsd3b1	UTSW	3	98852773	missense	probably damaging	1.00
R0326:Hsd3b1	UTSW	3	98853274	missense	probably damaging	1.00
R0390:Hsd3b1	UTSW	3	98853039	missense	probably damaging	1.00
R1532:Hsd3b1	UTSW	3	98852898	missense	probably damaging	1.00
R2845:Hsd3b1	UTSW	3	98852778	missense	probably damaging	1.00
R2846:Hsd3b1	UTSW	3	98852778	missense	probably damaging	1.00
R2898:Hsd3b1	UTSW	3	98853307	missense	probably benign	0.00
R3153:Hsd3b1	UTSW	3	98852664	missense	probably damaging	0.99
R3950:Hsd3b1	UTSW	3	98856138	missense	possibly damaging	0.79
R4456:Hsd3b1	UTSW	3	98856143	missense	probably benign	0.01
R4792:Hsd3b1	UTSW	3	98852910	missense	probably benign	0.22
R4799:Hsd3b1	UTSW	3	98852865	missense	probably benign	0.07
R4898:Hsd3b1	UTSW	3	98853326	missense	probably benign	0.12
R5512:Hsd3b1	UTSW	3	98853205	missense	probably benign	0.06
R5834:Hsd3b1	UTSW	3	98852939	missense	possibly damaging	0.60
R5921:Hsd3b1	UTSW	3	98857899	missense	probably benign	0.06
R6221:Hsd3b1	UTSW	3	98853156	missense	probably benign	0.00
R6918:Hsd3b1	UTSW	3	98853109	missense	probably damaging	0.98
R7058:Hsd3b1	UTSW	3	98857815	splice site	probably null
R7242:Hsd3b1	UTSW	3	98853210	missense	probably damaging	1.00
R8181:Hsd3b1	UTSW	3	98856137	missense	probably damaging	1.00
R8187:Hsd3b1	UTSW	3	98852617	missense	probably damaging	1.00
R8237:Hsd3b1	UTSW	3	98853110	missense	possibly damaging	0.65
Z1176:Hsd3b1	UTSW	3	98852886	missense	probably damaging	0.99

Posted On

2016-08-02