Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02385:Hsd3b6'

291484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd3b6

Ensembl Gene

ENSMUSG00000027869

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6

Synonyms

3beta-HSD VI

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02385

Quality Score

Status

Chromosome

Chromosomal Location

98712820-98721759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98713888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 137 (I137K)

Ref Sequence

ENSEMBL: ENSMUSP00000129911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]

AlphaFold

O35469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029463
AA Change: I137K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: I137K

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	135	1.2e-13	PFAM
Pfam:NmrA	6	136	6.3e-8	PFAM
Pfam:Epimerase	6	250	1.4e-26	PFAM
Pfam:GDP_Man_Dehyd	7	212	1.3e-13	PFAM
Pfam:3Beta_HSD	7	288	5.9e-114	PFAM
Pfam:NAD_binding_4	8	225	1.4e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170847
AA Change: I137K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: I137K

Domain	Start	End	E-Value	Type
Pfam:KR	5	131	5.6e-7	PFAM
Pfam:adh_short	5	133	2.7e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.2e-13	PFAM
Pfam:NmrA	6	136	2.3e-8	PFAM
Pfam:NAD_binding_10	6	221	2.3e-10	PFAM
Pfam:Epimerase	6	256	4.5e-27	PFAM
Pfam:3Beta_HSD	7	288	1.9e-113	PFAM
Pfam:NAD_binding_4	8	226	2.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196706

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,201,630 (GRCm39)	D351E	probably damaging	Het
Adad2	A	G	8: 120,341,773 (GRCm39)		probably benign	Het
Adamts8	A	G	9: 30,873,026 (GRCm39)	N744D	probably benign	Het
Atad5	C	T	11: 79,985,453 (GRCm39)	T180I	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bcl9	A	T	3: 97,116,594 (GRCm39)	I700K	probably benign	Het
Bcr	T	C	10: 74,981,235 (GRCm39)	S685P	probably damaging	Het
Cd36	A	G	5: 18,019,717 (GRCm39)	V128A	probably benign	Het
Cfap20dc	A	G	14: 8,510,920 (GRCm38)	V498A	possibly damaging	Het
Chd2	T	C	7: 73,085,570 (GRCm39)	Y1688C	probably damaging	Het
Csmd1	A	G	8: 15,953,275 (GRCm39)	V3402A	probably benign	Het
Dsg3	T	C	18: 20,660,771 (GRCm39)	V370A	probably damaging	Het
Dus4l	A	G	12: 31,690,674 (GRCm39)		probably benign	Het
Fcrlb	A	G	1: 170,735,168 (GRCm39)	S320P	probably damaging	Het
Fer1l4	T	C	2: 155,887,348 (GRCm39)	D616G	probably benign	Het
Fxr2	C	T	11: 69,543,095 (GRCm39)	R631C	possibly damaging	Het
Gltpd2	T	A	11: 70,410,822 (GRCm39)	F152I	probably damaging	Het
Gpt2	T	A	8: 86,242,782 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,917 (GRCm39)	V324A	probably benign	Het
Kcnu1	C	T	8: 26,422,298 (GRCm39)	L188F	probably damaging	Het
Kdm1b	A	G	13: 47,221,982 (GRCm39)	I474V	possibly damaging	Het
Kifap3	C	T	1: 163,693,013 (GRCm39)	Q602*	probably null	Het
Lrp4	T	A	2: 91,305,065 (GRCm39)	C231S	possibly damaging	Het
Lrrc63	T	C	14: 75,323,640 (GRCm39)	D528G	probably benign	Het
Nosip	C	A	7: 44,726,156 (GRCm39)	R240S	possibly damaging	Het
Or11g26	T	C	14: 50,752,900 (GRCm39)	S80P	probably damaging	Het
Or4f57	G	A	2: 111,790,603 (GRCm39)	P272S	probably benign	Het
Or4k41	A	G	2: 111,279,695 (GRCm39)	D70G	probably damaging	Het
Orc5	A	T	5: 22,731,438 (GRCm39)	D231E	probably damaging	Het
Poli	A	T	18: 70,659,645 (GRCm39)	M62K	possibly damaging	Het
Ppp1r13b	A	C	12: 111,801,477 (GRCm39)	S402R	probably damaging	Het
Prl3b1	T	C	13: 27,433,366 (GRCm39)	S174P	possibly damaging	Het
Ptpra	T	C	2: 130,382,393 (GRCm39)		probably benign	Het
Sfpq	T	A	4: 126,919,929 (GRCm39)		probably null	Het
Sh3bp1	T	A	15: 78,790,088 (GRCm39)		probably benign	Het
Slc7a2	T	G	8: 41,352,048 (GRCm39)	V37G	probably damaging	Het
Smc1a	A	T	X: 150,820,655 (GRCm39)	E794D	possibly damaging	Het
Sox6	T	C	7: 115,149,274 (GRCm39)	R366G	possibly damaging	Het
Spaca7	A	G	8: 12,636,498 (GRCm39)	N108S	possibly damaging	Het
Spon1	T	G	7: 113,365,567 (GRCm39)	M1R	probably null	Het
Sult6b2	T	C	6: 142,747,498 (GRCm39)	R84G	probably benign	Het
Syt2	A	G	1: 134,673,553 (GRCm39)	N299S	probably benign	Het
Syvn1	T	C	19: 6,098,570 (GRCm39)	V104A	probably damaging	Het
Tbpl1	A	G	10: 22,583,568 (GRCm39)	L134P	probably damaging	Het
Tex11	A	T	X: 99,920,135 (GRCm39)		probably benign	Het
Tnfrsf21	A	G	17: 43,350,942 (GRCm39)	S369G	probably damaging	Het
Tram1l1	T	C	3: 124,115,707 (GRCm39)	V289A	probably benign	Het
Ttyh3	A	T	5: 140,619,060 (GRCm39)	F277L	probably benign	Het
Vmn2r17	T	G	5: 109,582,247 (GRCm39)	N545K	probably damaging	Het
Wdr20	A	T	12: 110,759,657 (GRCm39)	H181L	probably benign	Het
Zscan20	A	G	4: 128,498,392 (GRCm39)	M2T	possibly damaging	Het

Other mutations in Hsd3b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Hsd3b6	APN	3	98,713,594 (GRCm39)	missense	probably damaging	1.00
IGL00940:Hsd3b6	APN	3	98,713,940 (GRCm39)	missense	probably damaging	1.00
IGL02030:Hsd3b6	APN	3	98,713,489 (GRCm39)	missense	probably benign	0.07
IGL02819:Hsd3b6	APN	3	98,718,262 (GRCm39)	missense	probably benign	0.00
IGL03381:Hsd3b6	APN	3	98,715,128 (GRCm39)	missense	possibly damaging	0.83
R1444:Hsd3b6	UTSW	3	98,715,237 (GRCm39)	missense	probably benign	0.01
R1472:Hsd3b6	UTSW	3	98,715,255 (GRCm39)	splice site	probably null
R1996:Hsd3b6	UTSW	3	98,713,597 (GRCm39)	missense	probably damaging	0.98
R2101:Hsd3b6	UTSW	3	98,713,553 (GRCm39)	missense	possibly damaging	0.95
R2108:Hsd3b6	UTSW	3	98,713,503 (GRCm39)	nonsense	probably null
R4579:Hsd3b6	UTSW	3	98,713,541 (GRCm39)	missense	probably damaging	0.98
R4628:Hsd3b6	UTSW	3	98,713,895 (GRCm39)	missense	possibly damaging	0.93
R4808:Hsd3b6	UTSW	3	98,713,601 (GRCm39)	missense	probably damaging	1.00
R4850:Hsd3b6	UTSW	3	98,715,221 (GRCm39)	missense	probably benign	0.12
R5093:Hsd3b6	UTSW	3	98,715,120 (GRCm39)	missense	probably benign	0.01
R6221:Hsd3b6	UTSW	3	98,713,849 (GRCm39)	missense	probably benign
R6333:Hsd3b6	UTSW	3	98,713,540 (GRCm39)	missense	probably damaging	1.00
R6928:Hsd3b6	UTSW	3	98,718,269 (GRCm39)	missense	probably benign	0.03
R7404:Hsd3b6	UTSW	3	98,713,534 (GRCm39)	missense	probably benign	0.02
R7814:Hsd3b6	UTSW	3	98,718,259 (GRCm39)	missense	probably damaging	1.00
R8092:Hsd3b6	UTSW	3	98,713,456 (GRCm39)	missense	possibly damaging	0.88
R9055:Hsd3b6	UTSW	3	98,713,984 (GRCm39)	missense	probably damaging	1.00
R9249:Hsd3b6	UTSW	3	98,713,679 (GRCm39)	missense	probably benign	0.01
R9714:Hsd3b6	UTSW	3	98,713,645 (GRCm39)	missense	probably benign	0.00
RF001:Hsd3b6	UTSW	3	98,713,756 (GRCm39)	missense	probably benign	0.00
X0023:Hsd3b6	UTSW	3	98,713,849 (GRCm39)	missense	probably benign
Z1088:Hsd3b6	UTSW	3	98,713,648 (GRCm39)	missense	probably benign	0.21

Posted On

2015-04-16