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

98525950-98537568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98537373 bp (GRCm39)

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
Adnp2	A	T	18: 80,171,247 (GRCm39)	I1054N	probably benign	Het
Carf	C	T	1: 60,186,577 (GRCm39)	Q511*	probably null	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dnaaf5	G	T	5: 139,137,423 (GRCm39)		probably null	Het
Gen1	T	C	12: 11,311,068 (GRCm39)	N55D	probably damaging	Het
Gsdmc4	T	A	15: 63,769,653 (GRCm39)	R190W	probably damaging	Het
Lactb2	T	G	1: 13,717,740 (GRCm39)		probably benign	Het
Pdzk1	A	G	3: 96,775,742 (GRCm39)	D370G	probably benign	Het
Qtrt1	G	T	9: 21,330,845 (GRCm39)		probably null	Het
Taf7l2	A	C	10: 115,948,931 (GRCm39)	D198E	probably benign	Het
Tmem63c	T	A	12: 87,123,980 (GRCm39)	L486Q	probably benign	Het
Top2b	A	G	14: 16,389,831 (GRCm38)	Y223C	probably damaging	Het
Trpm2	T	C	10: 77,778,749 (GRCm39)		probably null	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Hsd3b5	APN	3	98,537,414 (GRCm39)	missense	probably benign	0.00
IGL01530:Hsd3b5	APN	3	98,526,439 (GRCm39)	missense	probably damaging	1.00
IGL01930:Hsd3b5	APN	3	98,529,475 (GRCm39)	missense	probably benign	0.01
IGL02363:Hsd3b5	APN	3	98,537,421 (GRCm39)	missense	probably benign	0.08
IGL02396:Hsd3b5	APN	3	98,529,343 (GRCm39)	missense	probably benign	0.05
IGL02448:Hsd3b5	APN	3	98,529,447 (GRCm39)	missense	probably damaging	1.00
R0045:Hsd3b5	UTSW	3	98,526,460 (GRCm39)	missense	probably benign
R0624:Hsd3b5	UTSW	3	98,526,720 (GRCm39)	missense	probably damaging	0.98
R0745:Hsd3b5	UTSW	3	98,526,855 (GRCm39)	missense	probably benign	0.12
R0848:Hsd3b5	UTSW	3	98,526,671 (GRCm39)	missense	probably damaging	1.00
R1112:Hsd3b5	UTSW	3	98,537,393 (GRCm39)	missense	probably benign	0.00
R1454:Hsd3b5	UTSW	3	98,526,846 (GRCm39)	missense	probably benign	0.01
R1631:Hsd3b5	UTSW	3	98,529,393 (GRCm39)	missense	probably damaging	1.00
R1657:Hsd3b5	UTSW	3	98,527,036 (GRCm39)	missense	possibly damaging	0.89
R1839:Hsd3b5	UTSW	3	98,527,044 (GRCm39)	missense	probably benign	0.30
R2930:Hsd3b5	UTSW	3	98,526,528 (GRCm39)	missense	probably benign	0.03
R2982:Hsd3b5	UTSW	3	98,527,116 (GRCm39)	missense	possibly damaging	0.88
R3158:Hsd3b5	UTSW	3	98,529,375 (GRCm39)	missense	probably benign	0.00
R4573:Hsd3b5	UTSW	3	98,526,964 (GRCm39)	missense	probably benign	0.04
R4941:Hsd3b5	UTSW	3	98,526,379 (GRCm39)	missense	probably damaging	1.00
R5104:Hsd3b5	UTSW	3	98,526,592 (GRCm39)	missense	probably damaging	1.00
R5416:Hsd3b5	UTSW	3	98,526,466 (GRCm39)	missense	probably damaging	1.00
R6311:Hsd3b5	UTSW	3	98,537,406 (GRCm39)	missense	possibly damaging	0.79
R6861:Hsd3b5	UTSW	3	98,529,328 (GRCm39)	missense	probably damaging	1.00
R7307:Hsd3b5	UTSW	3	98,527,085 (GRCm39)	missense	probably damaging	0.97
R7339:Hsd3b5	UTSW	3	98,529,390 (GRCm39)	missense	probably damaging	1.00
R7615:Hsd3b5	UTSW	3	98,537,420 (GRCm39)	missense	probably damaging	0.99
R7673:Hsd3b5	UTSW	3	98,526,757 (GRCm39)	missense	probably damaging	1.00
R7883:Hsd3b5	UTSW	3	98,529,456 (GRCm39)	missense	probably benign	0.00
R8398:Hsd3b5	UTSW	3	98,526,720 (GRCm39)	missense	possibly damaging	0.85
R9218:Hsd3b5	UTSW	3	98,526,354 (GRCm39)	missense	probably benign	0.03

Posted On

2012-12-06