Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Hsd3b5'

186449

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b5

Ensembl Gene

ENSMUSG00000038092

Gene Name

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

Synonyms

3(beta)HSDV

MMRRC Submission

039693-MU

Accession Numbers

Essential gene?

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

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98619720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 137 (I137F)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044094
AA Change: I137F

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: I137F

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,678	Q131R	probably benign	Het
3632451O06Rik	G	C	14: 49,773,560	T230S	probably damaging	Het
Acaca	T	G	11: 84,264,084	D988E	probably benign	Het
Als2	A	G	1: 59,180,601	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,156,055	V391A	probably damaging	Het
Caprin1	A	T	2: 103,769,506	V608E	probably damaging	Het
Celsr3	T	A	9: 108,842,952	C2512*	probably null	Het
Cfl1	A	T	19: 5,493,555	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,725,944	V42I	probably damaging	Het
Chd2	A	G	7: 73,480,430	Y826H	probably damaging	Het
Col9a2	C	A	4: 121,040,974	P28T	unknown	Het
Cyp3a44	G	A	5: 145,779,743	P346S	probably damaging	Het
Dact2	A	G	17: 14,197,990	V151A	probably benign	Het
Dhx29	T	C	13: 112,952,843	I716T	probably damaging	Het
Esam	T	C	9: 37,537,621	S342P	probably damaging	Het
Fam189a2	C	A	19: 23,975,635	C437F	probably damaging	Het
Fer1l4	A	G	2: 156,035,598	V1053A	possibly damaging	Het
Grk3	A	G	5: 112,966,982	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,137,399		probably null	Het
Itgav	A	T	2: 83,801,779	I902F	probably benign	Het
Itsn1	G	T	16: 91,909,223	C179F	probably damaging	Het
Kcnh8	G	A	17: 52,839,125	R347H	probably damaging	Het
Kif9	T	C	9: 110,489,966	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,746,454	Q324*	probably null	Het
Lcn9	G	A	2: 25,824,710	E154K	probably benign	Het
Mfge8	A	T	7: 79,141,773	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,931,043	R753*	probably null	Het
Mtif2	G	A	11: 29,540,721	R475Q	probably benign	Het
Nln	C	T	13: 104,036,947	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,948,767	E129G	probably benign	Het
Ocstamp	T	C	2: 165,397,516	D250G	probably damaging	Het
Olfr1065	A	C	2: 86,445,218	L255V	probably damaging	Het
Olfr403	A	T	11: 74,195,896	H131L	probably damaging	Het
Olfr503	T	C	7: 108,545,377	I284T	possibly damaging	Het
Pld1	A	T	3: 28,071,187	I417L	probably benign	Het
Polr1a	A	T	6: 71,941,535	K692N	probably damaging	Het
Qsox2	A	T	2: 26,220,747	Y152*	probably null	Het
Rpap1	T	C	2: 119,783,778	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,614,448	T246A	probably damaging	Het
Scn5a	T	C	9: 119,562,380	D82G	probably damaging	Het
Sema3d	A	G	5: 12,584,974	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 33,880,226	N282S	probably benign	Het
Snap47	A	T	11: 59,428,770	S181T	probably benign	Het
Snx9	A	C	17: 5,918,436	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Terb1	A	T	8: 104,488,491	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,418,008	A153V	probably damaging	Het
Ttn	T	C	2: 76,742,804	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,933,011	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,245,670	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,929,957		probably benign	Het
Zfp184	C	T	13: 21,959,273	T383M	probably damaging	Het
Zfp455	T	C	13: 67,198,639	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,584,110	N478K	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
IGL02363:Hsd3b5	APN	3	98630105	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTGCATTGCCCACATACAC -3'
(R):5'- ATGGAGACCAGTCTGACCCCATTG -3'

Sequencing Primer
(F):5'- TGCCCACATACACTGGGTTG -3'
(R):5'- TGCCACAGTGGCCCTTTG -3'

Posted On

2014-05-09