Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02894:Hsd3b1'

363320

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

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

IGL02894

Quality Score

Status

Chromosome

Chromosomal Location

98759510-98767110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98760245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 249 (I249F)

Ref Sequence

ENSEMBL: ENSMUSP00000102630 (fasta)

Gene Model

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

AlphaFold

P24815

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029465
AA Change: I249F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: I249F

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

possibly damaging
Transcript: ENSMUST00000107016
AA Change: I249F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: I249F

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	T	A	14: 33,776,817 (GRCm39)		probably benign	Het
Aurka	T	A	2: 172,208,868 (GRCm39)		probably null	Het
Cacna2d3	C	T	14: 28,786,276 (GRCm39)		probably null	Het
Cdh12	A	G	15: 21,586,380 (GRCm39)	Y733C	probably damaging	Het
Cdon	A	T	9: 35,366,722 (GRCm39)	E199D	probably benign	Het
Celsr2	A	T	3: 108,302,526 (GRCm39)	L558Q	probably damaging	Het
Clcnkb	C	A	4: 141,135,130 (GRCm39)	R536L	probably benign	Het
Cyp3a11	G	A	5: 145,805,836 (GRCm39)	Q151*	probably null	Het
Dnah7a	A	T	1: 53,616,487 (GRCm39)	V1158E	probably benign	Het
Dnah8	G	T	17: 30,940,084 (GRCm39)	E1677*	probably null	Het
Dock3	T	C	9: 106,807,298 (GRCm39)	N1343S	probably benign	Het
Dock6	T	A	9: 21,723,111 (GRCm39)	E1603D	probably damaging	Het
Fam91a1	C	T	15: 58,315,080 (GRCm39)	T589M	probably benign	Het
Fat2	T	A	11: 55,147,479 (GRCm39)	N3921I	probably damaging	Het
Gm10188	A	G	1: 132,157,037 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,376,863 (GRCm39)	E976G	probably benign	Het
Hapln3	G	T	7: 78,771,521 (GRCm39)	Q123K	probably benign	Het
Hnrnpul1	G	A	7: 25,450,329 (GRCm39)	P128S	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,444 (GRCm39)	H606L	probably benign	Het
Krt82	T	C	15: 101,451,155 (GRCm39)	Y418C	probably damaging	Het
Mcm3ap	C	A	10: 76,313,601 (GRCm39)	A565E	probably benign	Het
Minar1	T	G	9: 89,485,155 (GRCm39)	I81L	probably damaging	Het
Naip2	A	G	13: 100,297,505 (GRCm39)	S844P	probably damaging	Het
Naip2	C	T	13: 100,320,297 (GRCm39)	V240I	probably benign	Het
Notch2	T	A	3: 98,009,748 (GRCm39)	C558*	probably null	Het
Npdc1	T	A	2: 25,298,007 (GRCm39)	H185Q	probably benign	Het
Or2a25	A	T	6: 42,888,451 (GRCm39)		probably benign	Het
Or4c31	T	G	2: 88,292,070 (GRCm39)	Y148D	probably damaging	Het
Or5d37	T	C	2: 87,924,107 (GRCm39)	I58V	possibly damaging	Het
Osbpl3	A	T	6: 50,323,312 (GRCm39)	I257N	possibly damaging	Het
Pkd1l2	T	A	8: 117,740,630 (GRCm39)	T2156S	probably damaging	Het
Ppp1r13b	A	G	12: 111,797,888 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,503,573 (GRCm39)	H49N	probably damaging	Het
Prrc2c	A	T	1: 162,505,626 (GRCm39)	L1100I	probably damaging	Het
Ptpn21	A	C	12: 98,655,891 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Ptprq	T	A	10: 107,503,285 (GRCm39)	Q791L	probably benign	Het
Ptprz1	G	A	6: 23,035,148 (GRCm39)	R1966H	probably damaging	Het
Ralgapa1	T	A	12: 55,763,854 (GRCm39)	Q1404L	possibly damaging	Het
Reln	C	A	5: 22,090,546 (GRCm39)	M3437I	possibly damaging	Het
S100a7l2	A	T	3: 90,995,700 (GRCm39)	F67L	probably benign	Het
Slc13a1	T	C	6: 24,137,041 (GRCm39)		probably benign	Het
Slc4a11	T	C	2: 130,529,075 (GRCm39)		probably null	Het
Slc9a2	A	G	1: 40,802,762 (GRCm39)	E604G	probably benign	Het
Sod3	T	G	5: 52,525,348 (GRCm39)	S16A	possibly damaging	Het
Taok3	A	G	5: 117,401,678 (GRCm39)	I650V	probably benign	Het
Uggt2	T	C	14: 119,319,211 (GRCm39)	I270M	probably damaging	Het
Ugt3a1	T	A	15: 9,367,487 (GRCm39)	I410N	probably damaging	Het
Ush2a	G	A	1: 188,184,043 (GRCm39)	S1449N	probably damaging	Het
Usp29	A	T	7: 6,964,633 (GRCm39)	M159L	probably benign	Het
Vmn1r122	A	T	7: 20,867,649 (GRCm39)	F135L	probably benign	Het
Wdr11	T	C	7: 129,232,890 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,725,202 (GRCm39)		probably null	Het
Zfp955a	A	T	17: 33,461,426 (GRCm39)	C235*	probably null	Het

Other mutations in Hsd3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Hsd3b1	APN	3	98,760,562 (GRCm39)	missense	probably damaging	1.00
IGL01955:Hsd3b1	APN	3	98,760,463 (GRCm39)	missense	probably benign	0.08
IGL03136:Hsd3b1	APN	3	98,760,301 (GRCm39)	missense	probably damaging	1.00
R0265:Hsd3b1	UTSW	3	98,760,089 (GRCm39)	missense	probably damaging	1.00
R0326:Hsd3b1	UTSW	3	98,760,590 (GRCm39)	missense	probably damaging	1.00
R0390:Hsd3b1	UTSW	3	98,760,355 (GRCm39)	missense	probably damaging	1.00
R1532:Hsd3b1	UTSW	3	98,760,214 (GRCm39)	missense	probably damaging	1.00
R2845:Hsd3b1	UTSW	3	98,760,094 (GRCm39)	missense	probably damaging	1.00
R2846:Hsd3b1	UTSW	3	98,760,094 (GRCm39)	missense	probably damaging	1.00
R2898:Hsd3b1	UTSW	3	98,760,623 (GRCm39)	missense	probably benign	0.00
R3153:Hsd3b1	UTSW	3	98,759,980 (GRCm39)	missense	probably damaging	0.99
R3950:Hsd3b1	UTSW	3	98,763,454 (GRCm39)	missense	possibly damaging	0.79
R4456:Hsd3b1	UTSW	3	98,763,459 (GRCm39)	missense	probably benign	0.01
R4792:Hsd3b1	UTSW	3	98,760,226 (GRCm39)	missense	probably benign	0.22
R4799:Hsd3b1	UTSW	3	98,760,181 (GRCm39)	missense	probably benign	0.07
R4898:Hsd3b1	UTSW	3	98,760,642 (GRCm39)	missense	probably benign	0.12
R5512:Hsd3b1	UTSW	3	98,760,521 (GRCm39)	missense	probably benign	0.06
R5834:Hsd3b1	UTSW	3	98,760,255 (GRCm39)	missense	possibly damaging	0.60
R5921:Hsd3b1	UTSW	3	98,765,215 (GRCm39)	missense	probably benign	0.06
R6221:Hsd3b1	UTSW	3	98,760,472 (GRCm39)	missense	probably benign	0.00
R6918:Hsd3b1	UTSW	3	98,760,425 (GRCm39)	missense	probably damaging	0.98
R7058:Hsd3b1	UTSW	3	98,765,131 (GRCm39)	splice site	probably null
R7242:Hsd3b1	UTSW	3	98,760,526 (GRCm39)	missense	probably damaging	1.00
R8181:Hsd3b1	UTSW	3	98,763,453 (GRCm39)	missense	probably damaging	1.00
R8187:Hsd3b1	UTSW	3	98,759,933 (GRCm39)	missense	probably damaging	1.00
R8237:Hsd3b1	UTSW	3	98,760,426 (GRCm39)	missense	possibly damaging	0.65
R8695:Hsd3b1	UTSW	3	98,760,223 (GRCm39)	missense	probably damaging	1.00
R8939:Hsd3b1	UTSW	3	98,760,299 (GRCm39)	missense	probably damaging	1.00
R9013:Hsd3b1	UTSW	3	98,759,977 (GRCm39)	missense	probably damaging	1.00
R9188:Hsd3b1	UTSW	3	98,760,216 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b1	UTSW	3	98,760,202 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18