Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02363:Hsd3b5'

290612

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: 0.052) question?

Stock #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98630105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 32 (I32V)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

probably benign
Transcript: ENSMUST00000044094
AA Change: I32V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: I32V

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,218,437	H1490L	possibly damaging	Het
Ak8	T	C	2: 28,812,898	S425P	probably damaging	Het
Comt	T	C	16: 18,411,131	D153G	probably benign	Het
Exoc6	T	C	19: 37,608,954	I601T	probably damaging	Het
F11	A	T	8: 45,241,531	C598S	probably damaging	Het
Galnt13	G	T	2: 55,112,860	D524Y	probably damaging	Het
Glb1l3	T	C	9: 26,853,644	E157G	probably damaging	Het
Hc	T	C	2: 35,000,835	H1323R	probably benign	Het
Il6ra	A	G	3: 89,871,253	S430P	probably benign	Het
Lama2	G	T	10: 27,366,066	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,208,045		probably benign	Het
Ntrk3	T	C	7: 78,453,337	D405G	probably benign	Het
Opn5	T	C	17: 42,557,491	D371G	probably benign	Het
Pcdh15	G	T	10: 74,317,086	A408S	probably damaging	Het
Pim3	T	C	15: 88,862,913	V54A	probably benign	Het
Prdm5	T	C	6: 65,794,319	F38S	probably damaging	Het
Ptgs2	C	T	1: 150,105,709		probably null	Het
Rnf185	A	G	11: 3,418,015	I221T	possibly damaging	Het
Slc27a2	T	C	2: 126,578,950	F318L	possibly damaging	Het
Spata1	T	C	3: 146,487,364	Y124C	possibly damaging	Het
Tmie	G	T	9: 110,870,753		probably benign	Het
Tph2	T	C	10: 115,079,981	K429R	probably benign	Het
Usp32	A	G	11: 85,044,787	Y388H	probably benign	Het
Vmn2r60	A	T	7: 42,195,154	Q647L	probably benign	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Hsd3b5	APN	3	98630057	missense	probably benign	0.05
IGL00827:Hsd3b5	APN	3	98630098	missense	probably benign	0.00
IGL01530:Hsd3b5	APN	3	98619123	missense	probably damaging	1.00
IGL01930:Hsd3b5	APN	3	98622159	missense	probably benign	0.01
IGL02396:Hsd3b5	APN	3	98622027	missense	probably benign	0.05
IGL02448:Hsd3b5	APN	3	98622131	missense	probably damaging	1.00
R0045:Hsd3b5	UTSW	3	98619144	missense	probably benign
R0624:Hsd3b5	UTSW	3	98619404	missense	probably damaging	0.98
R0745:Hsd3b5	UTSW	3	98619539	missense	probably benign	0.12
R0848:Hsd3b5	UTSW	3	98619355	missense	probably damaging	1.00
R1112:Hsd3b5	UTSW	3	98630077	missense	probably benign	0.00
R1454:Hsd3b5	UTSW	3	98619530	missense	probably benign	0.01
R1631:Hsd3b5	UTSW	3	98622077	missense	probably damaging	1.00
R1657:Hsd3b5	UTSW	3	98619720	missense	possibly damaging	0.89
R1839:Hsd3b5	UTSW	3	98619728	missense	probably benign	0.30
R2930:Hsd3b5	UTSW	3	98619212	missense	probably benign	0.03
R2982:Hsd3b5	UTSW	3	98619800	missense	possibly damaging	0.88
R3158:Hsd3b5	UTSW	3	98622059	missense	probably benign	0.00
R4573:Hsd3b5	UTSW	3	98619648	missense	probably benign	0.04
R4941:Hsd3b5	UTSW	3	98619063	missense	probably damaging	1.00
R5104:Hsd3b5	UTSW	3	98619276	missense	probably damaging	1.00
R5416:Hsd3b5	UTSW	3	98619150	missense	probably damaging	1.00
R6311:Hsd3b5	UTSW	3	98630090	missense	possibly damaging	0.79
R6861:Hsd3b5	UTSW	3	98622012	missense	probably damaging	1.00
R7307:Hsd3b5	UTSW	3	98619769	missense	probably damaging	0.97
R7339:Hsd3b5	UTSW	3	98622074	missense	probably damaging	1.00
R7615:Hsd3b5	UTSW	3	98630104	missense	probably damaging	0.99
R7673:Hsd3b5	UTSW	3	98619441	missense	probably damaging	1.00
R7883:Hsd3b5	UTSW	3	98622140	missense	probably benign	0.00
R8398:Hsd3b5	UTSW	3	98619404	missense	possibly damaging	0.85
R9218:Hsd3b5	UTSW	3	98619038	missense	probably benign	0.03

Posted On

2015-04-16