Mutagenetix > Incidental Mutation

Incidental Mutation 'R2926:Hsd3b9'

255742

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

040511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98352991-98364442 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 98357872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139967 (fasta)

Gene Model

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

AlphaFold

E9Q007

Predicted Effect

probably benign
Transcript: ENSMUST00000167753

SMART Domains

Protein: ENSMUSP00000127882
Gene: ENSMUSG00000090817

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

noncoding transcript
Transcript: ENSMUST00000187850

Predicted Effect

probably benign
Transcript: ENSMUST00000188356

SMART Domains

Protein: ENSMUSP00000139967
Gene: ENSMUSG00000090817

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,902 (GRCm39)	S438R	possibly damaging	Het
Add3	A	G	19: 53,215,253 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,902,137 (GRCm39)	L506P	probably damaging	Het
Atp6v0a1	A	T	11: 100,934,774 (GRCm39)	I621L	probably damaging	Het
Calb1	T	G	4: 15,904,302 (GRCm39)	L218R	probably damaging	Het
Ccdc162	G	A	10: 41,437,203 (GRCm39)		probably benign	Het
Ccser2	A	T	14: 36,601,518 (GRCm39)	S842T	possibly damaging	Het
Cd300a	A	G	11: 114,784,139 (GRCm39)	E49G	possibly damaging	Het
Colec11	T	A	12: 28,667,428 (GRCm39)	Q37L	probably damaging	Het
D630045J12Rik	T	A	6: 38,145,106 (GRCm39)	I1307F	probably damaging	Het
Dapk1	T	C	13: 60,867,564 (GRCm39)	V257A	possibly damaging	Het
Dnah3	T	A	7: 119,550,338 (GRCm39)	N3327I	probably damaging	Het
Gja8	C	T	3: 96,826,469 (GRCm39)	V398I	probably benign	Het
Hfm1	A	T	5: 107,022,148 (GRCm39)	L179*	probably null	Het
Ift88	T	C	14: 57,726,375 (GRCm39)	Y678H	probably damaging	Het
Itga10	A	G	3: 96,560,165 (GRCm39)	N560D	probably damaging	Het
Itpk1	G	T	12: 102,545,389 (GRCm39)	P238Q	probably damaging	Het
Kl	T	C	5: 150,876,806 (GRCm39)	W209R	probably damaging	Het
Lama4	A	G	10: 38,954,828 (GRCm39)	N1127S	probably benign	Het
Lrp1	C	T	10: 127,423,982 (GRCm39)	C830Y	probably damaging	Het
Mcmbp	G	A	7: 128,299,738 (GRCm39)		probably benign	Het
Mrps33	A	G	6: 39,782,438 (GRCm39)	S28P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Myt1	C	T	2: 181,467,803 (GRCm39)	T1079M	possibly damaging	Het
N4bp1	A	T	8: 87,588,424 (GRCm39)	Y171*	probably null	Het
Ncln	G	T	10: 81,324,272 (GRCm39)	T442K	probably benign	Het
Nphp4	T	C	4: 152,602,596 (GRCm39)	V390A	probably damaging	Het
Ntrk2	C	A	13: 59,208,098 (GRCm39)	T648K	probably damaging	Het
Nwd1	A	G	8: 73,393,640 (GRCm39)	H301R	probably damaging	Het
Or4k5	A	T	14: 50,385,893 (GRCm39)	V146E	probably benign	Het
Pcdh12	T	C	18: 38,415,443 (GRCm39)	N561D	probably damaging	Het
Pcnx1	T	A	12: 82,041,769 (GRCm39)	S2134T	probably damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Pramel3e	G	T	X: 134,400,297 (GRCm39)	A96S	possibly damaging	Het
Prrc2c	C	T	1: 162,533,696 (GRCm39)		probably benign	Het
Rabggta	C	T	14: 55,956,747 (GRCm39)	R319H	probably benign	Het
Scn10a	A	C	9: 119,467,767 (GRCm39)	F791C	possibly damaging	Het
Stab1	T	A	14: 30,883,756 (GRCm39)	D267V	probably damaging	Het
Sva	A	T	6: 42,019,596 (GRCm39)	Y152F	possibly damaging	Het
Tgfbrap1	T	G	1: 43,114,789 (GRCm39)	M104L	probably damaging	Het
Tmed4	T	C	11: 6,221,728 (GRCm39)	T203A	probably benign	Het
Toe1	C	T	4: 116,662,177 (GRCm39)	A331T	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm7	T	C	2: 126,700,329 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,636,170 (GRCm39)	R438*	probably null	Het
Usp11	G	T	X: 20,584,031 (GRCm39)	G601W	probably damaging	Het
Vmn2r112	A	G	17: 22,833,984 (GRCm39)	T551A	possibly damaging	Het
Vmn2r73	T	C	7: 85,520,871 (GRCm39)	K366E	probably benign	Het
Vps33a	A	G	5: 123,707,634 (GRCm39)	I111T	possibly 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
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
R8417:Hsd3b9	UTSW	3	98,363,731 (GRCm39)	missense	probably benign	0.08
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'- GCACCTTTCAGATTGACATCTAGG -3'
(R):5'- TACTGCTCAGGTGCATGTTC -3'

Sequencing Primer
(F):5'- TCAGATTGACATCTAGGATGGTC -3'
(R):5'- CTGCTCAGGTGCATGTTCTACAAAG -3'

Posted On

2014-12-29