Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Hsd3b6'

602490

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b6

Ensembl Gene

ENSMUSG00000027869

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6

Synonyms

3beta-HSD VI

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98712820-98721759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98713756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 181 (H181L)

Ref Sequence

ENSEMBL: ENSMUSP00000029463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029463] [ENSMUST00000170847]

AlphaFold

O35469

Predicted Effect

probably benign
Transcript: ENSMUST00000029463
AA Change: H181L

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

SMART Domains

Protein: ENSMUSP00000029463
Gene: ENSMUSG00000027869
AA Change: H181L

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	135	1.2e-13	PFAM
Pfam:NmrA	6	136	6.3e-8	PFAM
Pfam:Epimerase	6	250	1.4e-26	PFAM
Pfam:GDP_Man_Dehyd	7	212	1.3e-13	PFAM
Pfam:3Beta_HSD	7	288	5.9e-114	PFAM
Pfam:NAD_binding_4	8	225	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170847
AA Change: H181L

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

SMART Domains

Protein: ENSMUSP00000129911
Gene: ENSMUSG00000027869
AA Change: H181L

Domain	Start	End	E-Value	Type
Pfam:KR	5	131	5.6e-7	PFAM
Pfam:adh_short	5	133	2.7e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.2e-13	PFAM
Pfam:NmrA	6	136	2.3e-8	PFAM
Pfam:NAD_binding_10	6	221	2.3e-10	PFAM
Pfam:Epimerase	6	256	4.5e-27	PFAM
Pfam:3Beta_HSD	7	288	1.9e-113	PFAM
Pfam:NAD_binding_4	8	226	2.7e-20	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,891,311 (GRCm39)		probably benign	Het
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Cherp	GACCTGGA	G	8: 73,215,893 (GRCm39)		probably null	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hecw1	C	A	13: 14,472,009 (GRCm39)	C553F	probably damaging	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Matn3	T	A	12: 9,008,797 (GRCm39)	D303E	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,477 (GRCm39)	N503D	possibly damaging	Het

Other mutations in Hsd3b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Hsd3b6	APN	3	98,713,594 (GRCm39)	missense	probably damaging	1.00
IGL00940:Hsd3b6	APN	3	98,713,940 (GRCm39)	missense	probably damaging	1.00
IGL02030:Hsd3b6	APN	3	98,713,489 (GRCm39)	missense	probably benign	0.07
IGL02385:Hsd3b6	APN	3	98,713,888 (GRCm39)	missense	possibly damaging	0.67
IGL02819:Hsd3b6	APN	3	98,718,262 (GRCm39)	missense	probably benign	0.00
IGL03381:Hsd3b6	APN	3	98,715,128 (GRCm39)	missense	possibly damaging	0.83
R1444:Hsd3b6	UTSW	3	98,715,237 (GRCm39)	missense	probably benign	0.01
R1472:Hsd3b6	UTSW	3	98,715,255 (GRCm39)	splice site	probably null
R1996:Hsd3b6	UTSW	3	98,713,597 (GRCm39)	missense	probably damaging	0.98
R2101:Hsd3b6	UTSW	3	98,713,553 (GRCm39)	missense	possibly damaging	0.95
R2108:Hsd3b6	UTSW	3	98,713,503 (GRCm39)	nonsense	probably null
R4579:Hsd3b6	UTSW	3	98,713,541 (GRCm39)	missense	probably damaging	0.98
R4628:Hsd3b6	UTSW	3	98,713,895 (GRCm39)	missense	possibly damaging	0.93
R4808:Hsd3b6	UTSW	3	98,713,601 (GRCm39)	missense	probably damaging	1.00
R4850:Hsd3b6	UTSW	3	98,715,221 (GRCm39)	missense	probably benign	0.12
R5093:Hsd3b6	UTSW	3	98,715,120 (GRCm39)	missense	probably benign	0.01
R6221:Hsd3b6	UTSW	3	98,713,849 (GRCm39)	missense	probably benign
R6333:Hsd3b6	UTSW	3	98,713,540 (GRCm39)	missense	probably damaging	1.00
R6928:Hsd3b6	UTSW	3	98,718,269 (GRCm39)	missense	probably benign	0.03
R7404:Hsd3b6	UTSW	3	98,713,534 (GRCm39)	missense	probably benign	0.02
R7814:Hsd3b6	UTSW	3	98,718,259 (GRCm39)	missense	probably damaging	1.00
R8092:Hsd3b6	UTSW	3	98,713,456 (GRCm39)	missense	possibly damaging	0.88
R9055:Hsd3b6	UTSW	3	98,713,984 (GRCm39)	missense	probably damaging	1.00
R9249:Hsd3b6	UTSW	3	98,713,679 (GRCm39)	missense	probably benign	0.01
R9714:Hsd3b6	UTSW	3	98,713,645 (GRCm39)	missense	probably benign	0.00
X0023:Hsd3b6	UTSW	3	98,713,849 (GRCm39)	missense	probably benign
Z1088:Hsd3b6	UTSW	3	98,713,648 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AAGGCTCCAGCTGGAATCAG -3'
(R):5'- CTCAGTTGATGTTGCAGGGC -3'

Sequencing Primer
(F):5'- CTGAGATGTAGTAGAACTCTCCTTG -3'
(R):5'- TTGATGTTGCAGGGCCCAAC -3'

Posted On

2019-12-04