Mutagenetix > Incidental Mutation

Incidental Mutation 'R7673:Hsd3b5'

592289

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

045743-MU

Accession Numbers

Essential gene?

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

Stock #

R7673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98619441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 230 (A230S)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

probably damaging
Transcript: ENSMUST00000044094
AA Change: A230S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: A230S

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,882,708 (GRCm38)	A682S	probably benign	Het
Acad11	A	T	9: 104,063,906 (GRCm38)		probably null	Het
Ahctf1	A	T	1: 179,762,846 (GRCm38)	D1287E	probably benign	Het
Aldh9a1	C	A	1: 167,361,550 (GRCm38)	L360M	probably benign	Het
Ank3	A	T	10: 69,990,501 (GRCm38)	I1667F		Het
Atp8b3	A	G	10: 80,524,406 (GRCm38)	Y944H	probably damaging	Het
Ccdc30	T	C	4: 119,353,172 (GRCm38)	D316G	probably damaging	Het
Ccdc50	T	C	16: 27,406,675 (GRCm38)	I46T	possibly damaging	Het
Cfap74	T	G	4: 155,463,056 (GRCm38)	I1233S	unknown	Het
Chd9	A	G	8: 91,051,697 (GRCm38)	M2779V	probably damaging	Het
Cmya5	A	T	13: 93,094,121 (GRCm38)	D1486E	probably benign	Het
Creb3	T	C	4: 43,563,117 (GRCm38)	V72A	not run	Het
Cxcl17	C	A	7: 25,402,868 (GRCm38)	C50F	probably damaging	Het
Dcaf11	C	A	14: 55,569,305 (GRCm38)	N528K	probably benign	Het
Ddx46	T	C	13: 55,659,159 (GRCm38)	V535A	probably benign	Het
Det1	A	T	7: 78,843,611 (GRCm38)	V215D	possibly damaging	Het
Dnaja3	A	G	16: 4,694,464 (GRCm38)	N244S	probably benign	Het
Dnajc13	G	T	9: 104,233,692 (GRCm38)	P127T	probably benign	Het
Dnm2	T	A	9: 21,481,421 (GRCm38)		probably null	Het
Fam117a	G	T	11: 95,371,496 (GRCm38)	R142L	probably benign	Het
Fpr-rs6	T	C	17: 20,182,737 (GRCm38)	M121V	probably benign	Het
Gatad1	T	C	5: 3,646,867 (GRCm38)	T95A	probably benign	Het
Gdap2	A	G	3: 100,191,699 (GRCm38)	D369G	probably benign	Het
Gm12185	A	T	11: 48,907,628 (GRCm38)	D679E	probably benign	Het
Gm5519	G	C	19: 33,825,028 (GRCm38)	G157A	probably benign	Het
Gm960	A	C	19: 4,645,633 (GRCm38)	D530E	probably damaging	Het
Gmeb2	T	A	2: 181,260,388 (GRCm38)	H123L	probably benign	Het
Golgb1	C	T	16: 36,913,669 (GRCm38)	P1134S	probably benign	Het
Gsdmc2	G	T	15: 63,825,083 (GRCm38)	A413D	probably damaging	Het
Hck	C	T	2: 153,129,085 (GRCm38)	A89V	possibly damaging	Het
Heatr5b	G	A	17: 78,795,983 (GRCm38)	T1147M	probably damaging	Het
Hoxb2	A	T	11: 96,353,457 (GRCm38)	D298V	possibly damaging	Het
Hrc	A	G	7: 45,337,234 (GRCm38)	E603G	probably benign	Het
Hsh2d	A	G	8: 72,200,511 (GRCm38)	S246G	probably benign	Het
Ifna4	A	C	4: 88,842,072 (GRCm38)	Q71P	possibly damaging	Het
Il4i1	A	G	7: 44,840,362 (GRCm38)	E517G	probably benign	Het
Kdm6b	A	C	11: 69,405,742 (GRCm38)	S566R	probably damaging	Het
Lamc2	T	A	1: 153,124,036 (GRCm38)	Q1192H	probably damaging	Het
Map2	T	C	1: 66,413,774 (GRCm38)	S608P	probably benign	Het
March9	T	C	10: 127,056,599 (GRCm38)	E340G	probably damaging	Het
Mcm3	A	G	1: 20,812,014 (GRCm38)	L442P	probably damaging	Het
Mreg	A	C	1: 72,160,964 (GRCm38)	M189R	probably benign	Het
Myh4	A	T	11: 67,245,513 (GRCm38)	R406W	probably damaging	Het
Nol8	A	G	13: 49,664,780 (GRCm38)	D842G	probably benign	Het
Nrros	T	A	16: 32,162,281 (GRCm38)	I10F	unknown	Het
Obscn	G	A	11: 59,027,437 (GRCm38)	P210S		Het
Olfr1085	T	C	2: 86,657,726 (GRCm38)	H244R	probably damaging	Het
Olfr1312	T	A	2: 112,042,580 (GRCm38)	M151L	probably benign	Het
Olfr889	A	T	9: 38,116,227 (GRCm38)	T149S	probably benign	Het
Olfr998	T	C	2: 85,591,062 (GRCm38)	I174T	possibly damaging	Het
Orai1	A	G	5: 123,029,442 (GRCm38)	H226R	probably benign	Het
Pcdhb18	G	T	18: 37,491,737 (GRCm38)	V707L	probably benign	Het
Pex5	A	T	6: 124,399,383 (GRCm38)	L420Q	probably damaging	Het
Rab8a	A	G	8: 72,161,296 (GRCm38)		probably benign	Het
Rexo4	G	A	2: 26,958,493 (GRCm38)	H339Y	probably benign	Het
Rif1	G	A	2: 52,088,654 (GRCm38)	V369M	probably damaging	Het
Rpgrip1l	A	T	8: 91,300,787 (GRCm38)	I208K	possibly damaging	Het
Sbno1	G	A	5: 124,413,216 (GRCm38)	P68L	probably benign	Het
Selenop	G	T	15: 3,274,858 (GRCm38)	C62F	probably damaging	Het
Slc13a4	A	T	6: 35,276,476 (GRCm38)	V397D	probably damaging	Het
Slc4a3	T	C	1: 75,557,351 (GRCm38)	V1114A	probably damaging	Het
Stard3nl	A	T	13: 19,367,753 (GRCm38)	S214T	probably benign	Het
Stra8	T	A	6: 34,927,918 (GRCm38)		probably null	Het
Stx8	T	C	11: 67,984,639 (GRCm38)	F97L	probably benign	Het
Thsd7b	A	G	1: 129,915,750 (GRCm38)		probably null	Het
Tmem94	T	C	11: 115,788,378 (GRCm38)	I251T	probably benign	Het
Toporsl	A	T	4: 52,610,679 (GRCm38)	T191S	probably damaging	Het
Vmn1r53	T	A	6: 90,223,643 (GRCm38)	E233V	probably damaging	Het
Wdr49	A	T	3: 75,450,907 (GRCm38)	L177Q	probably damaging	Het
Wnt8b	T	C	19: 44,511,688 (GRCm38)	L238P	possibly damaging	Het
Xirp2	T	C	2: 67,517,087 (GRCm38)	V3224A	probably damaging	Het
Zfp583	G	T	7: 6,317,010 (GRCm38)	N334K	possibly damaging	Het
Zfp60	T	A	7: 27,748,315 (GRCm38)	I136N	probably benign	Het
Zmynd15	G	T	11: 70,466,040 (GRCm38)	R722L	unknown	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
R5104:Hsd3b5	UTSW	3	98,619,276 (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
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'- AAGCTCACAGTTTCCAGCAG -3'
(R):5'- GCAACAAATGGGAGACTCCTG -3'

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

Posted On

2019-11-12