Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Hsd3b2'

471041

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b2

Ensembl Gene

ENSMUSG00000063730

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Synonyms

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98618423-98631859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98618875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 357 (I357F)

Ref Sequence

ENSEMBL: ENSMUSP00000136533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]

AlphaFold

P26149

Predicted Effect

probably benign
Transcript: ENSMUST00000107021
AA Change: I357F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: I357F

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107022
AA Change: I357F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: I357F

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177651
AA Change: I357F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: I357F

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	136	1.2e-13	PFAM
Pfam:NmrA	6	140	1.7e-7	PFAM
Pfam:Epimerase	6	249	2.1e-25	PFAM
Pfam:GDP_Man_Dehyd	7	187	2.7e-13	PFAM
Pfam:3Beta_HSD	7	288	8.2e-114	PFAM
Pfam:NAD_binding_4	8	223	1.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
Armc5	A	G	7: 127,841,444 (GRCm39)	E484G	probably benign	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,617,943 (GRCm39)	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,661,436 (GRCm39)		probably benign	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Uncx	C	T	5: 139,533,384 (GRCm39)	S483L	probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het
Zfp790	G	T	7: 29,528,929 (GRCm39)	G538V	probably damaging	Het

Other mutations in Hsd3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hsd3b2	APN	3	98,618,859 (GRCm39)	missense	possibly damaging	0.47
IGL01102:Hsd3b2	APN	3	98,618,995 (GRCm39)	missense	probably damaging	0.97
IGL01733:Hsd3b2	APN	3	98,623,801 (GRCm39)	missense	probably damaging	1.00
IGL02202:Hsd3b2	APN	3	98,619,183 (GRCm39)	missense	possibly damaging	0.85
IGL02851:Hsd3b2	APN	3	98,623,740 (GRCm39)	missense	possibly damaging	0.84
R1737:Hsd3b2	UTSW	3	98,618,862 (GRCm39)	missense	probably damaging	1.00
R1800:Hsd3b2	UTSW	3	98,619,553 (GRCm39)	missense	probably damaging	1.00
R1917:Hsd3b2	UTSW	3	98,619,342 (GRCm39)	missense	probably benign
R4797:Hsd3b2	UTSW	3	98,618,979 (GRCm39)	missense	probably damaging	1.00
R5354:Hsd3b2	UTSW	3	98,619,631 (GRCm39)	missense	probably benign	0.39
R5412:Hsd3b2	UTSW	3	98,619,208 (GRCm39)	missense	possibly damaging	0.88
R5940:Hsd3b2	UTSW	3	98,619,287 (GRCm39)	missense	probably benign	0.02
R6012:Hsd3b2	UTSW	3	98,619,333 (GRCm39)	missense	probably benign
R6083:Hsd3b2	UTSW	3	98,619,372 (GRCm39)	missense	possibly damaging	0.94
R6675:Hsd3b2	UTSW	3	98,620,788 (GRCm39)	missense	probably benign	0.02
R7436:Hsd3b2	UTSW	3	98,619,112 (GRCm39)	missense	probably benign	0.00
R8192:Hsd3b2	UTSW	3	98,620,908 (GRCm39)	missense	probably benign	0.00
R9380:Hsd3b2	UTSW	3	98,619,453 (GRCm39)	missense	probably damaging	0.99
R9445:Hsd3b2	UTSW	3	98,619,051 (GRCm39)	missense	possibly damaging	0.95
X0054:Hsd3b2	UTSW	3	98,620,816 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b2	UTSW	3	98,619,538 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTTGATTAAGGCACTAAATTGGCC -3'
(R):5'- TGATTCCAGCTGGAGCCTTC -3'

Sequencing Primer
(F):5'- AAGGCACTAAATTGGCCTCTGTG -3'
(R):5'- CCTGCTGGAAACTGTGAGCTTC -3'

Posted On

2017-03-31