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

98525950-98537568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98526592 bp (GRCm39)

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: 77,158,121 (GRCm39)	F109L	probably damaging	Het
Ano4	T	A	10: 88,903,974 (GRCm39)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,105,487 (GRCm39)	R214*	probably null	Het
Armh4	A	T	14: 50,010,929 (GRCm39)	D259E	possibly damaging	Het
Atl2	A	T	17: 80,160,046 (GRCm39)	S47T	probably benign	Het
Azgp1	T	G	5: 137,985,815 (GRCm39)	I146S	probably damaging	Het
Bicral	G	A	17: 47,112,182 (GRCm39)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 46,395,729 (GRCm39)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,325,346 (GRCm39)		probably null	Het
Cxcr5	G	T	9: 44,424,616 (GRCm39)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,353,126 (GRCm39)	H62P	probably damaging	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Ehd3	A	G	17: 74,134,442 (GRCm39)	N267S	probably benign	Het
Eno4	A	G	19: 58,933,973 (GRCm39)	Y58C	probably benign	Het
Fat2	A	G	11: 55,169,814 (GRCm39)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,063,315 (GRCm39)	A214D	probably damaging	Het
Gabrg1	A	C	5: 70,931,775 (GRCm39)	S323A	probably damaging	Het
Gbp9	T	C	5: 105,228,007 (GRCm39)	I592V	probably benign	Het
Gje1	G	A	10: 14,592,462 (GRCm39)	Q107*	probably null	Het
Gm29609	T	C	5: 31,311,638 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,082,418 (GRCm39)	F78I	probably benign	Het
Hecw1	T	C	13: 14,515,377 (GRCm39)	R252G	probably damaging	Het
Ighv1-74	T	C	12: 115,766,507 (GRCm39)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,138 (GRCm39)	D108G	probably damaging	Het
Il6st	C	G	13: 112,625,182 (GRCm39)	T266S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kit	A	G	5: 75,776,138 (GRCm39)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,269,265 (GRCm39)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,828,758 (GRCm39)	R369W	probably damaging	Het
Larp4	T	A	15: 99,883,964 (GRCm39)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,582,040 (GRCm39)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,119,579 (GRCm39)	L157S	probably damaging	Het
Naa16	A	T	14: 79,622,140 (GRCm39)	Y32*	probably null	Het
Nbea	A	G	3: 55,987,348 (GRCm39)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,268,159 (GRCm39)	V475A	probably benign	Het
Noxa1	T	C	2: 24,976,246 (GRCm39)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,918,159 (GRCm39)	K311*	probably null	Het
Or2ag17	A	T	7: 106,389,539 (GRCm39)	F223Y	possibly damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or2y3	A	T	17: 38,393,174 (GRCm39)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 163,885,507 (GRCm39)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,098,914 (GRCm39)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,655,415 (GRCm39)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,575,964 (GRCm39)		probably null	Het
Proz	A	G	8: 13,116,931 (GRCm39)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,158,364 (GRCm39)	H765Q	probably benign	Het
Relch	T	C	1: 105,658,965 (GRCm39)	V883A	probably benign	Het
Rffl	A	T	11: 82,703,619 (GRCm39)	C101*	probably null	Het
Rfx5	C	T	3: 94,862,451 (GRCm39)	T36I	probably benign	Het
Rnase12	C	A	14: 51,294,361 (GRCm39)	C106F	probably damaging	Het
Samd3	T	C	10: 26,139,686 (GRCm39)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,674,175 (GRCm39)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,260,908 (GRCm39)	E607G	probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Taf15	A	G	11: 83,378,222 (GRCm39)	Y154C	probably damaging	Het
Tgfb3	A	G	12: 86,105,756 (GRCm39)	V333A	possibly damaging	Het
Tiam1	A	G	16: 89,614,929 (GRCm39)	S2P	probably benign	Het
Tmed11	T	C	5: 108,925,142 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,170,257 (GRCm39)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,264,114 (GRCm39)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,098,745 (GRCm39)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,259,347 (GRCm39)	V115A	probably benign	Het
Tut1	A	G	19: 8,936,698 (GRCm39)	E174G	probably benign	Het
Ubr3	T	A	2: 69,768,600 (GRCm39)	M469K	probably damaging	Het
Vcan	C	T	13: 89,805,591 (GRCm39)		probably benign	Het
Wapl	C	T	14: 34,414,016 (GRCm39)	Q293*	probably null	Het
Wdr24	A	G	17: 26,043,565 (GRCm39)	H129R	probably damaging	Het
Wrn	A	T	8: 33,757,895 (GRCm39)		probably null	Het

Other mutations in Hsd3b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Hsd3b5	APN	3	98,537,373 (GRCm39)	missense	probably benign	0.05
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
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

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