Mutagenetix > Incidental Mutation

Incidental Mutation 'R3153:Hsd3b1'

264452

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b1

Ensembl Gene

ENSMUSG00000027871

Gene Name

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

Synonyms

D3Ertd383e

MMRRC Submission

040604-MU

Accession Numbers

Essential gene?

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

Stock #

R3153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98759510-98767110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98759980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 337 (D337G)

Ref Sequence

ENSEMBL: ENSMUSP00000102630 (fasta)

Gene Model

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

AlphaFold

P24815

Predicted Effect

probably damaging
Transcript: ENSMUST00000029465
AA Change: D337G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029465
Gene: ENSMUSG00000027871
AA Change: D337G

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: D337G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102630
Gene: ENSMUSG00000027871
AA Change: D337G

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Abhd12	A	G	2: 150,676,275 (GRCm39)	F361L	probably benign	Het
Abr	A	T	11: 76,377,295 (GRCm39)	I59N	probably damaging	Het
Agbl1	A	G	7: 76,369,944 (GRCm39)	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,648,716 (GRCm39)	R27L	probably benign	Het
Cct8l1	A	C	5: 25,722,137 (GRCm39)	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174 (GRCm39)	N2134K	probably benign	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,686,722 (GRCm39)	M433I	probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Col20a1	C	T	2: 180,650,386 (GRCm39)	P1074L	probably damaging	Het
Coq6	G	A	12: 84,418,309 (GRCm39)	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,406,430 (GRCm39)	Y132C	probably damaging	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Eps8l1	A	T	7: 4,474,798 (GRCm39)	I321F	probably damaging	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,350,987 (GRCm39)	F166L	probably benign	Het
Gatc	T	C	5: 115,473,546 (GRCm39)	E131G	probably benign	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gprc5b	G	A	7: 118,575,770 (GRCm39)	P385L	probably damaging	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Kank1	T	A	19: 25,388,052 (GRCm39)	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,916,339 (GRCm39)	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,764,243 (GRCm39)	Y125*	probably null	Het
Lce1h	C	T	3: 92,670,982 (GRCm39)	G57R	unknown	Het
Lgalsl	A	G	11: 20,776,487 (GRCm39)	F135S	probably damaging	Het
Lrba	A	G	3: 86,192,526 (GRCm39)	M147V	probably damaging	Het
Mdm2	T	C	10: 117,545,618 (GRCm39)	E23G	possibly damaging	Het
Mthfd1	C	A	12: 76,358,737 (GRCm39)	Q67K	probably benign	Het
Mtus2	T	C	5: 148,019,870 (GRCm39)	L755P	probably damaging	Het
Or5m13b	T	C	2: 85,754,074 (GRCm39)	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124 (GRCm39)	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,476,126 (GRCm39)	P421S	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,817,207 (GRCm39)	S1364A	probably benign	Het
Rin3	A	C	12: 102,334,800 (GRCm39)	E157A	unknown	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Rph3a	T	C	5: 121,111,440 (GRCm39)	T47A	probably damaging	Het
Sap18	T	C	14: 58,039,402 (GRCm39)	M68T	probably benign	Het
Sfrp2	A	G	3: 83,680,577 (GRCm39)	T246A	probably benign	Het
Slc18a3	A	G	14: 32,185,228 (GRCm39)	V385A	probably benign	Het
Slitrk3	C	T	3: 72,956,315 (GRCm39)	W819*	probably null	Het
Smap1	A	T	1: 23,892,630 (GRCm39)	D111E	probably damaging	Het
Spesp1	G	A	9: 62,189,376 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Sv2a	T	A	3: 96,092,574 (GRCm39)	D91E	possibly damaging	Het
Tbc1d5	A	G	17: 51,275,264 (GRCm39)	I77T	probably damaging	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,570,302 (GRCm39)	K261E	probably benign	Het
Zfp202	T	C	9: 40,119,734 (GRCm39)	L179P	probably benign	Het
Zkscan5	T	A	5: 145,149,437 (GRCm39)	S251R	probably benign	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
IGL02894:Hsd3b1	APN	3	98,760,245 (GRCm39)	missense	possibly damaging	0.88
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTGACTTGAGAAAGATACCAAG -3'
(R):5'- TAATGCCAGCTGGAGCCTTC -3'

Sequencing Primer
(F):5'- ACAGCAGGACCTGGCTTGTG -3'
(R):5'- AGCTGGAGCCTTCCTCTG -3'

Posted On

2015-02-05