Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01102:Hsd3b2'

50738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd3b2

Ensembl Gene

ENSMUSG00000063730

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01102

Quality Score

Status

Chromosome

Chromosomal Location

98618423-98631859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98618995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 317 (R317S)

Ref Sequence

ENSEMBL: ENSMUSP00000136533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]

AlphaFold

P26149

Predicted Effect

probably damaging
Transcript: ENSMUST00000107021
AA Change: R317S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: R317S

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107022
AA Change: R317S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: R317S

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177651
AA Change: R317S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: R317S

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	136	1.2e-13	PFAM
Pfam:NmrA	6	140	1.7e-7	PFAM
Pfam:Epimerase	6	249	2.1e-25	PFAM
Pfam:GDP_Man_Dehyd	7	187	2.7e-13	PFAM
Pfam:3Beta_HSD	7	288	8.2e-114	PFAM
Pfam:NAD_binding_4	8	223	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,968 (GRCm39)		probably benign	Het
Bloc1s2-ps	C	T	2: 52,509,914 (GRCm39)	A50V	probably benign	Het
Bltp3b	T	C	10: 89,627,240 (GRCm39)	L435P	probably benign	Het
Col4a3	A	G	1: 82,647,441 (GRCm39)	D455G	unknown	Het
Col4a3	A	G	1: 82,647,976 (GRCm39)	I496V	unknown	Het
Coro1c	A	T	5: 113,987,675 (GRCm39)	M222K	probably benign	Het
Dnah5	T	A	15: 28,410,149 (GRCm39)		probably null	Het
Emc4	C	A	2: 112,197,871 (GRCm39)		probably benign	Het
Fcer2a	T	C	8: 3,738,842 (GRCm39)	D32G	possibly damaging	Het
Fhip1a	A	G	3: 85,572,808 (GRCm39)		probably benign	Het
Garnl3	T	C	2: 32,896,828 (GRCm39)	K559E	probably damaging	Het
Gckr	T	C	5: 31,466,381 (GRCm39)	L452P	probably damaging	Het
Gm4841	A	G	18: 60,403,124 (GRCm39)	V323A	probably damaging	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Gpr75	T	C	11: 30,841,755 (GRCm39)	V220A	probably benign	Het
Hdac6	A	G	X: 7,813,237 (GRCm39)	S42P	probably benign	Het
Hdhd2	A	G	18: 77,044,607 (GRCm39)	N128S	probably damaging	Het
Il23r	T	A	6: 67,400,909 (GRCm39)	I474F	probably damaging	Het
Itga5	T	C	15: 103,255,102 (GRCm39)	Y954C	probably benign	Het
Itgam	T	C	7: 127,679,445 (GRCm39)	F196L	possibly damaging	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Mblac2	T	C	13: 81,898,125 (GRCm39)	M167T	probably damaging	Het
Mterf4	C	T	1: 93,232,812 (GRCm39)	R13H	possibly damaging	Het
Npffr1	T	G	10: 61,449,987 (GRCm39)	V87G	probably damaging	Het
Or5h18	G	A	16: 58,848,192 (GRCm39)	P26L	probably benign	Het
Or6c76b	A	G	10: 129,692,497 (GRCm39)	I37V	probably benign	Het
Phldb2	A	G	16: 45,645,423 (GRCm39)	L386P	probably damaging	Het
Ppp1r13b	A	G	12: 111,799,653 (GRCm39)	I708T	probably benign	Het
Pramel31	A	G	4: 144,090,195 (GRCm39)	I412V	probably benign	Het
Ramp2	T	A	11: 101,138,453 (GRCm39)	Y85N	probably benign	Het
Rnf217	A	G	10: 31,484,499 (GRCm39)	Y228H	probably damaging	Het
Rock1	T	G	18: 10,080,502 (GRCm39)	D1014A	probably benign	Het
Scyl3	T	A	1: 163,762,338 (GRCm39)	C101*	probably null	Het
Sema6b	G	T	17: 56,439,761 (GRCm39)	L27I	possibly damaging	Het
Slc10a5	A	G	3: 10,400,369 (GRCm39)	V97A	probably benign	Het
Strc	C	A	2: 121,195,541 (GRCm39)	R1636L	probably benign	Het
Tm9sf1	T	A	14: 55,880,224 (GRCm39)	T58S	probably damaging	Het
Tmem106c	T	C	15: 97,864,825 (GRCm39)	Y85H	probably damaging	Het
Vmn2r9	A	G	5: 108,990,811 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,628,781 (GRCm39)		probably null	Het
Zfp976	A	T	7: 42,263,333 (GRCm39)	L168*	probably null	Het

Other mutations in Hsd3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hsd3b2	APN	3	98,618,859 (GRCm39)	missense	possibly damaging	0.47
IGL01733:Hsd3b2	APN	3	98,623,801 (GRCm39)	missense	probably damaging	1.00
IGL02202:Hsd3b2	APN	3	98,619,183 (GRCm39)	missense	possibly damaging	0.85
IGL02851:Hsd3b2	APN	3	98,623,740 (GRCm39)	missense	possibly damaging	0.84
R1737:Hsd3b2	UTSW	3	98,618,862 (GRCm39)	missense	probably damaging	1.00
R1800:Hsd3b2	UTSW	3	98,619,553 (GRCm39)	missense	probably damaging	1.00
R1917:Hsd3b2	UTSW	3	98,619,342 (GRCm39)	missense	probably benign
R4797:Hsd3b2	UTSW	3	98,618,979 (GRCm39)	missense	probably damaging	1.00
R5354:Hsd3b2	UTSW	3	98,619,631 (GRCm39)	missense	probably benign	0.39
R5412:Hsd3b2	UTSW	3	98,619,208 (GRCm39)	missense	possibly damaging	0.88
R5940:Hsd3b2	UTSW	3	98,619,287 (GRCm39)	missense	probably benign	0.02
R5954:Hsd3b2	UTSW	3	98,618,875 (GRCm39)	missense	probably benign	0.06
R6012:Hsd3b2	UTSW	3	98,619,333 (GRCm39)	missense	probably benign
R6083:Hsd3b2	UTSW	3	98,619,372 (GRCm39)	missense	possibly damaging	0.94
R6675:Hsd3b2	UTSW	3	98,620,788 (GRCm39)	missense	probably benign	0.02
R7436:Hsd3b2	UTSW	3	98,619,112 (GRCm39)	missense	probably benign	0.00
R8192:Hsd3b2	UTSW	3	98,620,908 (GRCm39)	missense	probably benign	0.00
R9380:Hsd3b2	UTSW	3	98,619,453 (GRCm39)	missense	probably damaging	0.99
R9445:Hsd3b2	UTSW	3	98,619,051 (GRCm39)	missense	possibly damaging	0.95
X0054:Hsd3b2	UTSW	3	98,620,816 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b2	UTSW	3	98,619,538 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21