Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Hsd3b5'

608866

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

045935-MU

Accession Numbers

Essential gene?

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

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98618634-98630252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98622140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 58 (V58A)

Ref Sequence

ENSEMBL: ENSMUSP00000041442 (fasta)

Gene Model

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

AlphaFold

Q61694

Predicted Effect

probably benign
Transcript: ENSMUST00000044094
AA Change: V58A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041442
Gene: ENSMUSG00000038092
AA Change: V58A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,850,647 (GRCm38)	W5R	unknown	Het
4430402I18Rik	A	C	19: 28,928,613 (GRCm38)	S297A	probably benign	Het
Abcb6	A	T	1: 75,178,016 (GRCm38)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,307,101 (GRCm38)	V1082A	probably benign	Het
Adrb2	A	G	18: 62,179,376 (GRCm38)	V126A	probably damaging	Het
Apol11a	A	G	15: 77,516,574 (GRCm38)	E87G	probably damaging	Het
Arhgap45	T	A	10: 80,027,589 (GRCm38)	C755*	probably null	Het
Arl13b	A	T	16: 62,827,266 (GRCm38)	I93K	probably damaging	Het
Aspm	A	G	1: 139,478,667 (GRCm38)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm38)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,802,117 (GRCm38)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,388,774 (GRCm38)	N1150K	probably benign	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Camta2	T	C	11: 70,675,211 (GRCm38)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431 (GRCm38)		probably benign	Het
Cep152	G	A	2: 125,613,058 (GRCm38)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm38)	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,964,014 (GRCm38)		probably null	Het
Cttn	C	T	7: 144,445,818 (GRCm38)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,720,206 (GRCm38)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,140,397 (GRCm38)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm38)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,561,382 (GRCm38)	D612E	probably damaging	Het
Fat2	T	C	11: 55,253,364 (GRCm38)		probably null	Het
Fat4	G	A	3: 38,981,819 (GRCm38)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,688,406 (GRCm38)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,733,891 (GRCm38)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,368,635 (GRCm38)	T377M	probably damaging	Het
Gcnt3	T	A	9: 70,034,171 (GRCm38)	I372F	probably damaging	Het
Gm10577	A	T	4: 101,020,522 (GRCm38)	Y59N	unknown	Het
Gm826	A	G	2: 160,327,293 (GRCm38)	L32P	unknown	Het
Grid1	T	G	14: 35,450,302 (GRCm38)		probably null	Het
Hid1	T	A	11: 115,354,609 (GRCm38)	T457S	probably damaging	Het
Iqcj	A	G	3: 68,047,308 (GRCm38)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,606,175 (GRCm38)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,523,150 (GRCm38)	I722M	probably damaging	Het
Klhl36	T	C	8: 119,874,478 (GRCm38)	V412A	possibly damaging	Het
Krt18	G	A	15: 102,028,450 (GRCm38)	V58M	possibly damaging	Het
Lats2	T	C	14: 57,697,200 (GRCm38)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,665,129 (GRCm38)	I4095N		Het
Map1a	A	G	2: 121,305,372 (GRCm38)	E2223G	probably damaging	Het
Med25	A	G	7: 44,891,808 (GRCm38)	F94L	possibly damaging	Het
Mertk	A	G	2: 128,776,345 (GRCm38)	I499V	probably benign	Het
Mrps12	A	G	7: 28,740,143 (GRCm38)	L49P	probably benign	Het
Nwd1	T	A	8: 72,667,126 (GRCm38)	V339D	probably damaging	Het
Obscn	G	A	11: 59,070,009 (GRCm38)	Q3159*	probably null	Het
Patj	G	A	4: 98,611,135 (GRCm38)	V1349I	probably benign	Het
Pcdha8	T	A	18: 36,993,143 (GRCm38)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm38)		probably null	Het
Pdzd7	A	C	19: 45,030,240 (GRCm38)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 68,239,149 (GRCm38)	R45*	probably null	Het
Pik3c3	T	C	18: 30,274,363 (GRCm38)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,529,126 (GRCm38)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,884,903 (GRCm38)		probably null	Het
Ppan	T	A	9: 20,891,481 (GRCm38)	I311N	probably benign	Het
Ppih	C	A	4: 119,310,790 (GRCm38)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,834,715 (GRCm38)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,856,512 (GRCm38)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,731,558 (GRCm38)	K53R	probably benign	Het
Ptprn	A	T	1: 75,262,363 (GRCm38)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,981,427 (GRCm38)	I288V	probably benign	Het
Sds	A	G	5: 120,479,213 (GRCm38)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,858,749 (GRCm38)		probably null	Het
Sis	A	T	3: 72,920,996 (GRCm38)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,603,664 (GRCm38)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,494,514 (GRCm38)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,556,985 (GRCm38)	I440T	probably damaging	Het
St6galnac6	A	G	2: 32,614,929 (GRCm38)	N151S	probably benign	Het
Taf4	G	T	2: 179,929,295 (GRCm38)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,264,312 (GRCm38)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,595,030 (GRCm38)		probably null	Het
Tmem270	A	G	5: 134,902,827 (GRCm38)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,103,170 (GRCm38)	H395R	probably damaging	Het
Tufm	T	C	7: 126,488,942 (GRCm38)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,516,764 (GRCm38)		probably null	Het
Tulp3	G	A	6: 128,326,844 (GRCm38)	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,645,217 (GRCm38)	D194G	possibly damaging	Het
Vill	C	A	9: 119,065,521 (GRCm38)	C415*	probably null	Het
Zfp799	A	G	17: 32,820,282 (GRCm38)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,821,874 (GRCm38)	E213G	possibly damaging	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
R7673:Hsd3b5	UTSW	3	98,619,441 (GRCm38)	missense	probably damaging	1.00
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'- CCAGGTGTTCCAAACTAGGTG -3'
(R):5'- TGCTTCCTTCTGTAGAAAGGC -3'

Sequencing Primer
(F):5'- AGGTGTTCCAAACTAGGTGCTTCC -3'
(R):5'- TCTGTAGAAAGGCCTCCCC -3'

Posted On

2019-12-20