Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00730:Hsd3b5'

11356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd3b5

Ensembl Gene

ENSMUSG00000038092

Gene Name

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

Synonyms

3(beta)HSDV

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL00730

Quality Score

Status

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98630057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 48 (S48T)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044094]

AlphaFold

Q61694

Predicted Effect

probably benign
Transcript: ENSMUST00000044094
AA Change: S48T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: S48T

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	261	1.8e-8	PFAM
Pfam:KR	5	133	3.2e-8	PFAM
Pfam:Polysacc_synt_2	6	134	5.9e-12	PFAM
Pfam:NmrA	6	147	2.7e-12	PFAM
Pfam:Epimerase	6	249	1.2e-23	PFAM
Pfam:GDP_Man_Dehyd	7	187	5.6e-12	PFAM
Pfam:3Beta_HSD	7	288	2e-105	PFAM
Pfam:NAD_binding_4	8	220	3.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	C	10: 116,113,026 (GRCm38)	D198E	probably benign	Het
Adnp2	A	T	18: 80,128,032 (GRCm38)	I1054N	probably benign	Het
Carf	C	T	1: 60,147,418 (GRCm38)	Q511*	probably null	Het
Dnaaf5	G	T	5: 139,151,668 (GRCm38)		probably null	Het
Gen1	T	C	12: 11,261,067 (GRCm38)	N55D	probably damaging	Het
Gsdmc4	T	A	15: 63,897,804 (GRCm38)	R190W	probably damaging	Het
Lactb2	T	G	1: 13,647,516 (GRCm38)		probably benign	Het
Mb21d1	G	A	9: 78,435,488 (GRCm38)	P344L	probably damaging	Het
Pdzk1	A	G	3: 96,868,426 (GRCm38)	D370G	probably benign	Het
Qtrt1	G	T	9: 21,419,549 (GRCm38)		probably null	Het
Tmem63c	T	A	12: 87,077,206 (GRCm38)	L486Q	probably benign	Het
Top2b	A	G	14: 16,389,831 (GRCm38)	Y223C	probably damaging	Het
Trpm2	T	C	10: 77,942,915 (GRCm38)		probably null	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Hsd3b5	APN	3	98,630,098 (GRCm38)	missense	probably benign	0.00
IGL01530:Hsd3b5	APN	3	98,619,123 (GRCm38)	missense	probably damaging	1.00
IGL01930:Hsd3b5	APN	3	98,622,159 (GRCm38)	missense	probably benign	0.01
IGL02363:Hsd3b5	APN	3	98,630,105 (GRCm38)	missense	probably benign	0.08
IGL02396:Hsd3b5	APN	3	98,622,027 (GRCm38)	missense	probably benign	0.05
IGL02448:Hsd3b5	APN	3	98,622,131 (GRCm38)	missense	probably damaging	1.00
R0045:Hsd3b5	UTSW	3	98,619,144 (GRCm38)	missense	probably benign
R0624:Hsd3b5	UTSW	3	98,619,404 (GRCm38)	missense	probably damaging	0.98
R0745:Hsd3b5	UTSW	3	98,619,539 (GRCm38)	missense	probably benign	0.12
R0848:Hsd3b5	UTSW	3	98,619,355 (GRCm38)	missense	probably damaging	1.00
R1112:Hsd3b5	UTSW	3	98,630,077 (GRCm38)	missense	probably benign	0.00
R1454:Hsd3b5	UTSW	3	98,619,530 (GRCm38)	missense	probably benign	0.01
R1631:Hsd3b5	UTSW	3	98,622,077 (GRCm38)	missense	probably damaging	1.00
R1657:Hsd3b5	UTSW	3	98,619,720 (GRCm38)	missense	possibly damaging	0.89
R1839:Hsd3b5	UTSW	3	98,619,728 (GRCm38)	missense	probably benign	0.30
R2930:Hsd3b5	UTSW	3	98,619,212 (GRCm38)	missense	probably benign	0.03
R2982:Hsd3b5	UTSW	3	98,619,800 (GRCm38)	missense	possibly damaging	0.88
R3158:Hsd3b5	UTSW	3	98,622,059 (GRCm38)	missense	probably benign	0.00
R4573:Hsd3b5	UTSW	3	98,619,648 (GRCm38)	missense	probably benign	0.04
R4941:Hsd3b5	UTSW	3	98,619,063 (GRCm38)	missense	probably damaging	1.00
R5104:Hsd3b5	UTSW	3	98,619,276 (GRCm38)	missense	probably damaging	1.00
R5416:Hsd3b5	UTSW	3	98,619,150 (GRCm38)	missense	probably damaging	1.00
R6311:Hsd3b5	UTSW	3	98,630,090 (GRCm38)	missense	possibly damaging	0.79
R6861:Hsd3b5	UTSW	3	98,622,012 (GRCm38)	missense	probably damaging	1.00
R7307:Hsd3b5	UTSW	3	98,619,769 (GRCm38)	missense	probably damaging	0.97
R7339:Hsd3b5	UTSW	3	98,622,074 (GRCm38)	missense	probably damaging	1.00
R7615:Hsd3b5	UTSW	3	98,630,104 (GRCm38)	missense	probably damaging	0.99
R7673:Hsd3b5	UTSW	3	98,619,441 (GRCm38)	missense	probably damaging	1.00
R7883:Hsd3b5	UTSW	3	98,622,140 (GRCm38)	missense	probably benign	0.00
R8398:Hsd3b5	UTSW	3	98,619,404 (GRCm38)	missense	possibly damaging	0.85
R9218:Hsd3b5	UTSW	3	98,619,038 (GRCm38)	missense	probably benign	0.03

Posted On

2012-12-06