Mutagenetix > Incidental Mutation

Incidental Mutation 'R5104:Hsd3b5'

392539

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

042692-MU

Accession Numbers

Essential gene?

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

Stock #

R5104 (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 98619276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 285 (S285C)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

probably damaging
Transcript: ENSMUST00000044094
AA Change: S285C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: S285C

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,322,287 (GRCm38)	F109L	probably damaging	Het
Ano4	T	A	10: 89,068,112 (GRCm38)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,269,618 (GRCm38)	R214*	probably null	Het
Armh4	A	T	14: 49,773,472 (GRCm38)	D259E	possibly damaging	Het
Atl2	A	T	17: 79,852,617 (GRCm38)	S47T	probably benign	Het
Azgp1	T	G	5: 137,987,553 (GRCm38)	I146S	probably damaging	Het
Bicral	G	A	17: 46,801,256 (GRCm38)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 45,942,692 (GRCm38)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,348,385 (GRCm38)		probably null	Het
Cxcr5	G	T	9: 44,513,319 (GRCm38)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,495,929 (GRCm38)	H62P	probably damaging	Het
Dgki	T	C	6: 37,149,574 (GRCm38)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm38)		probably null	Het
Ehd3	A	G	17: 73,827,447 (GRCm38)	N267S	probably benign	Het
Eno4	A	G	19: 58,945,541 (GRCm38)	Y58C	probably benign	Het
Fat2	A	G	11: 55,278,988 (GRCm38)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,145,078 (GRCm38)	A214D	probably damaging	Het
Gabrg1	A	C	5: 70,774,432 (GRCm38)	S323A	probably damaging	Het
Gbp9	T	C	5: 105,080,141 (GRCm38)	I592V	probably benign	Het
Gje1	G	A	10: 14,716,718 (GRCm38)	Q107*	probably null	Het
Gm29609	T	C	5: 31,154,294 (GRCm38)		probably null	Het
Gpam	A	T	19: 55,093,986 (GRCm38)	F78I	probably benign	Het
Hecw1	T	C	13: 14,340,792 (GRCm38)	R252G	probably damaging	Het
Ighv1-74	T	C	12: 115,802,887 (GRCm38)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,044,154 (GRCm38)	D108G	probably damaging	Het
Il6st	C	G	13: 112,488,648 (GRCm38)	T266S	probably benign	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kit	A	G	5: 75,615,478 (GRCm38)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,569,840 (GRCm38)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,920,323 (GRCm38)	R369W	probably damaging	Het
Larp4	T	A	15: 99,986,083 (GRCm38)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,788,391 (GRCm38)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,338,132 (GRCm38)	L157S	probably damaging	Het
Naa16	A	T	14: 79,384,700 (GRCm38)	Y32*	probably null	Het
Nbea	A	G	3: 56,079,927 (GRCm38)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,426,366 (GRCm38)	V475A	probably benign	Het
Noxa1	T	C	2: 25,086,234 (GRCm38)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,680,702 (GRCm38)	K311*	probably null	Het
Or2ag17	A	T	7: 106,790,332 (GRCm38)	F223Y	possibly damaging	Het
Or2n1c	A	C	17: 38,208,317 (GRCm38)	E24A	possibly damaging	Het
Or2y3	A	T	17: 38,082,283 (GRCm38)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 164,043,587 (GRCm38)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,281,050 (GRCm38)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,585,191 (GRCm38)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,668,681 (GRCm38)		probably null	Het
Proz	A	G	8: 13,066,931 (GRCm38)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,322,459 (GRCm38)	H765Q	probably benign	Het
Relch	T	C	1: 105,731,240 (GRCm38)	V883A	probably benign	Het
Rffl	A	T	11: 82,812,793 (GRCm38)	C101*	probably null	Het
Rfx5	C	T	3: 94,955,140 (GRCm38)	T36I	probably benign	Het
Rnase12	C	A	14: 51,056,904 (GRCm38)	C106F	probably damaging	Het
Samd3	T	C	10: 26,263,788 (GRCm38)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,526,362 (GRCm38)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,214,134 (GRCm38)	E607G	probably null	Het
Snrnp40	G	T	4: 130,365,165 (GRCm38)	G122V	possibly damaging	Het
Snx25	T	C	8: 46,068,166 (GRCm38)	*143W	probably null	Het
Taf15	A	G	11: 83,487,396 (GRCm38)	Y154C	probably damaging	Het
Tgfb3	A	G	12: 86,058,982 (GRCm38)	V333A	possibly damaging	Het
Tiam1	A	G	16: 89,818,041 (GRCm38)	S2P	probably benign	Het
Tmed11	T	C	5: 108,777,276 (GRCm38)		probably null	Het
Tmtc4	T	C	14: 122,932,845 (GRCm38)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,406,917 (GRCm38)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,121,811 (GRCm38)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,282,384 (GRCm38)	V115A	probably benign	Het
Tut1	A	G	19: 8,959,334 (GRCm38)	E174G	probably benign	Het
Ubr3	T	A	2: 69,938,256 (GRCm38)	M469K	probably damaging	Het
Vcan	C	T	13: 89,657,472 (GRCm38)		probably benign	Het
Wapl	C	T	14: 34,692,059 (GRCm38)	Q293*	probably null	Het
Wdr24	A	G	17: 25,824,591 (GRCm38)	H129R	probably damaging	Het
Wrn	A	T	8: 33,267,867 (GRCm38)		probably null	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Hsd3b5	APN	3	98,630,057 (GRCm38)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTGTTCCAATCCACTCTGAG -3'
(R):5'- GTGTATGTGGGCAATGCAGC -3'

Sequencing Primer
(F):5'- TTCCTCCCAGCTGACAAGTGG -3'
(R):5'- GCCTGGGCTCACATTCTG -3'

Posted On

2016-06-15