Mutagenetix > Incidental Mutation

Incidental Mutation 'R8417:Hsd3b9'

652985

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b9

Ensembl Gene

ENSMUSG00000090817

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9

Synonyms

Gm4450

MMRRC Submission

067771-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98352991-98364442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98363731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 38 (T38I)

Ref Sequence

ENSEMBL: ENSMUSP00000127882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167753] [ENSMUST00000188356]

AlphaFold

E9Q007

Predicted Effect

probably benign
Transcript: ENSMUST00000167753
AA Change: T38I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127882
Gene: ENSMUSG00000090817
AA Change: T38I

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	260	2.4e-9	PFAM
Pfam:KR	5	133	4.7e-8	PFAM
Pfam:Polysacc_synt_2	6	135	1.2e-12	PFAM
Pfam:NmrA	6	147	2.8e-12	PFAM
Pfam:Epimerase	6	249	2.7e-24	PFAM
Pfam:GDP_Man_Dehyd	7	218	8.6e-13	PFAM
Pfam:3Beta_HSD	7	288	2.4e-106	PFAM
Pfam:NAD_binding_4	8	225	5.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188356
AA Change: T38I

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139967
Gene: ENSMUSG00000090817
AA Change: T38I

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	175	1.8e-6	PFAM
Pfam:adh_short	5	133	1.3e-8	PFAM
Pfam:KR	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	137	3.1e-11	PFAM
Pfam:NmrA	6	147	2.1e-10	PFAM
Pfam:NAD_binding_10	6	175	4e-12	PFAM
Pfam:Epimerase	6	191	1.6e-22	PFAM
Pfam:3Beta_HSD	7	191	1e-71	PFAM
Pfam:NAD_binding_4	8	191	4e-19	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,440,381 (GRCm39)		probably null	Het
Adamtsl1	G	A	4: 86,074,926 (GRCm39)	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,527,134 (GRCm39)	T601A	probably benign	Het
Ankrd33	C	A	15: 101,017,330 (GRCm39)	Q248K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263 (GRCm39)	C155F	probably benign	Het
Ccn6	T	A	10: 39,027,207 (GRCm39)	R342*	probably null	Het
Clpp	T	C	17: 57,297,661 (GRCm39)	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,027,495 (GRCm39)	I89F	possibly damaging	Het
Fam227b	C	A	2: 125,962,982 (GRCm39)	W178L	probably damaging	Het
Fcna	C	A	2: 25,514,863 (GRCm39)	R332L	probably damaging	Het
Gdf3	T	G	6: 122,583,566 (GRCm39)	H267P	probably damaging	Het
Gm5592	A	G	7: 40,937,975 (GRCm39)	D419G	probably benign	Het
Gm6882	A	G	7: 21,161,220 (GRCm39)	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,520,603 (GRCm39)	N78S	probably benign	Het
Hydin	T	C	8: 111,296,024 (GRCm39)	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,311,590 (GRCm39)	I942V	probably damaging	Het
Lamc1	A	G	1: 153,106,515 (GRCm39)	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,772,246 (GRCm39)	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,384 (GRCm39)	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,216,884 (GRCm39)	C232F	probably damaging	Het
Morc1	T	C	16: 48,281,103 (GRCm39)	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,459,880 (GRCm39)	C827*	probably null	Het
Or12k5	T	A	2: 36,894,658 (GRCm39)	T323S	probably benign	Het
Or5t7	A	G	2: 86,507,149 (GRCm39)	F176S	probably damaging	Het
Pbrm1	T	A	14: 30,749,419 (GRCm39)	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,355,136 (GRCm39)	I944V	probably benign	Het
Prdm8	A	T	5: 98,332,390 (GRCm39)	D97V	probably damaging	Het
Preb	G	A	5: 31,117,461 (GRCm39)		probably benign	Het
Prkcd	T	C	14: 30,331,208 (GRCm39)	K56E	probably benign	Het
Slit3	A	T	11: 35,501,438 (GRCm39)	I391F	probably damaging	Het
Spata19	A	G	9: 27,309,266 (GRCm39)	S91G	probably benign	Het
Stag3	A	G	5: 138,306,850 (GRCm39)	T1134A	probably benign	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmtc2	A	T	10: 105,249,097 (GRCm39)	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,168,639 (GRCm39)	R133K	probably benign	Het
Trim43c	C	A	9: 88,725,191 (GRCm39)	Q238K	probably benign	Het
Vcan	T	C	13: 89,836,862 (GRCm39)	D2894G	probably benign	Het
Zeb2	C	T	2: 44,913,008 (GRCm39)	S105N	probably damaging	Het

Other mutations in Hsd3b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Hsd3b9	APN	3	98,363,716 (GRCm39)	missense	probably benign
IGL02004:Hsd3b9	APN	3	98,363,735 (GRCm39)	missense	probably damaging	1.00
R0688:Hsd3b9	UTSW	3	98,363,710 (GRCm39)	missense	probably benign	0.19
R1301:Hsd3b9	UTSW	3	98,354,182 (GRCm39)	nonsense	probably null
R2926:Hsd3b9	UTSW	3	98,357,872 (GRCm39)	splice site	probably benign
R4797:Hsd3b9	UTSW	3	98,363,747 (GRCm39)	nonsense	probably null
R4915:Hsd3b9	UTSW	3	98,357,845 (GRCm39)	missense	probably damaging	0.97
R5796:Hsd3b9	UTSW	3	98,354,168 (GRCm39)	missense	probably benign	0.00
R6479:Hsd3b9	UTSW	3	98,354,157 (GRCm39)	missense	possibly damaging	0.79
R7085:Hsd3b9	UTSW	3	98,357,710 (GRCm39)	missense	probably damaging	1.00
R8821:Hsd3b9	UTSW	3	98,354,047 (GRCm39)	missense	probably benign	0.27
R8831:Hsd3b9	UTSW	3	98,354,047 (GRCm39)	missense	probably benign	0.27
R9182:Hsd3b9	UTSW	3	98,354,005 (GRCm39)	missense	possibly damaging	0.70
R9401:Hsd3b9	UTSW	3	98,363,819 (GRCm39)	missense	probably damaging	1.00
R9522:Hsd3b9	UTSW	3	98,353,783 (GRCm39)	missense	probably benign
Z1176:Hsd3b9	UTSW	3	98,363,771 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCTGCTCATGACCAATTGTG -3'
(R):5'- GACCCTGTACACATTGAATCAATCC -3'

Sequencing Primer
(F):5'- CCAATTGTGGGTGAGGCC -3'
(R):5'- CACAGGAGTACCTTATATCACATCTG -3'

Posted On

2020-10-20