Mutagenetix > Incidental Mutation

Incidental Mutation 'R8398:Hsd3b5'

647701

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

067761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98525950-98537568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98526720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 242 (D242V)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044094
AA Change: D242V

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: D242V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,330,797 (GRCm39)	D6086G	probably damaging	Het
Amh	T	C	10: 80,641,394 (GRCm39)	S105P	probably benign	Het
Arap2	A	T	5: 62,906,252 (GRCm39)	Y256N	probably damaging	Het
Asap3	G	A	4: 135,961,704 (GRCm39)	M271I	probably benign	Het
Bbof1	T	C	12: 84,475,188 (GRCm39)	L459P	probably damaging	Het
Ccl21a	T	C	4: 42,773,412 (GRCm39)	T109A	probably benign	Het
Cnot6	C	T	11: 49,593,445 (GRCm39)	R12Q	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,621 (GRCm39)	Q925*	probably null	Het
Dbh	G	A	2: 27,064,910 (GRCm39)	V374M	probably damaging	Het
Dvl2	T	A	11: 69,899,128 (GRCm39)	L462Q	probably damaging	Het
Fchsd1	G	A	18: 38,099,577 (GRCm39)	R206C	probably damaging	Het
Gjd4	C	T	18: 9,280,326 (GRCm39)	V251M	possibly damaging	Het
Glud1	A	G	14: 34,033,228 (GRCm39)	D125G	probably benign	Het
Gm10428	T	C	11: 62,644,173 (GRCm39)	I83T	unknown	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm3045	A	G	13: 56,577,280 (GRCm39)	T143A	possibly damaging	Het
Heatr6	A	C	11: 83,672,164 (GRCm39)	E1057D	probably benign	Het
Hoxa9	T	C	6: 52,201,403 (GRCm39)	T213A	probably damaging	Het
Lama5	A	G	2: 179,838,827 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 40,591,819 (GRCm39)	C3827Y		Het
Mast2	A	T	4: 116,165,946 (GRCm39)	S1261T	probably damaging	Het
Mex3b	T	A	7: 82,518,842 (GRCm39)	F386I	probably benign	Het
Mta1	T	A	12: 113,095,242 (GRCm39)	M465K	possibly damaging	Het
Mtmr12	T	A	15: 12,265,695 (GRCm39)	F470L	probably damaging	Het
Myot	A	G	18: 44,487,883 (GRCm39)	N400S	probably benign	Het
Ndnf	T	C	6: 65,681,362 (GRCm39)	V547A	probably damaging	Het
Noc3l	A	T	19: 38,783,554 (GRCm39)	D607E	probably benign	Het
Or5w14	A	G	2: 87,542,175 (GRCm39)	V25A	probably benign	Het
Pcdha11	G	A	18: 37,146,116 (GRCm39)	G736R	possibly damaging	Het
Pcgf3	A	G	5: 108,647,509 (GRCm39)	N205S	probably damaging	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Psg27	T	C	7: 18,295,837 (GRCm39)	T203A	probably benign	Het
Ptch1	T	C	13: 63,672,939 (GRCm39)	T889A	probably benign	Het
Sars1	C	T	3: 108,335,489 (GRCm39)		probably null	Het
Scrn2	G	T	11: 96,921,730 (GRCm39)	V67L	probably benign	Het
Slc1a4	T	C	11: 20,257,982 (GRCm39)	D380G	probably damaging	Het
Slc9a1	A	T	4: 133,146,814 (GRCm39)	Q516L	probably benign	Het
Smc4	T	C	3: 68,933,184 (GRCm39)	Y627H	probably damaging	Het
Spon2	G	T	5: 33,374,154 (GRCm39)	H76Q	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sppl2b	CTGTCACA	C	10: 80,701,902 (GRCm39)		probably null	Het
Sugp1	A	G	8: 70,523,783 (GRCm39)	Y550C	probably damaging	Het
Sun1	A	G	5: 139,222,408 (GRCm39)	D558G	probably damaging	Het
Syne1	T	C	10: 5,074,923 (GRCm39)	E1134G	probably damaging	Het
Thbd	C	T	2: 148,248,600 (GRCm39)	V423I	probably benign	Het
V1rd19	C	A	7: 23,703,374 (GRCm39)	S280*	probably null	Het
Zfp947	A	T	17: 22,365,102 (GRCm39)	C191S	probably benign	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
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
R9218:Hsd3b5	UTSW	3	98,526,354 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCTCACAGTTTCCAGCAG -3'
(R):5'- GCAACAAATGGGAGACTCCTG -3'

Sequencing Primer
(F):5'- TCCAGCAGGAAGGCAAGCC -3'
(R):5'- CCTGAAAAATGGTGGCACTTTGC -3'

Posted On

2020-09-02