Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Hsd3b3'

283763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsd3b3

Ensembl Gene

ENSMUSG00000062410

Gene Name

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

Synonyms

9030618K22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

98648839-98670443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98649454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 290 (I290L)

Ref Sequence

ENSEMBL: ENSMUSP00000102633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090743] [ENSMUST00000094050] [ENSMUST00000107018] [ENSMUST00000107019] [ENSMUST00000146196]

AlphaFold

P26150

Predicted Effect

probably benign
Transcript: ENSMUST00000090743
AA Change: I290L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088246
Gene: ENSMUSG00000062410
AA Change: I290L

Domain	Start	End	E-Value	Type
Pfam:KR	5	132	8.2e-7	PFAM
Pfam:adh_short	5	133	3.9e-8	PFAM
Pfam:Polysacc_synt_2	6	134	3.5e-13	PFAM
Pfam:NmrA	6	136	2.5e-8	PFAM
Pfam:NAD_binding_10	6	237	5.8e-10	PFAM
Pfam:Epimerase	6	256	1.4e-27	PFAM
Pfam:3Beta_HSD	7	288	1.6e-114	PFAM
Pfam:NAD_binding_4	8	220	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094050
AA Change: I235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091592
Gene: ENSMUSG00000062410
AA Change: I235L

Domain	Start	End	E-Value	Type
Pfam:3Beta_HSD	7	51	2e-12	PFAM
Pfam:NAD_binding_4	39	162	7.4e-7	PFAM
Pfam:Epimerase	43	201	2.1e-12	PFAM
Pfam:3Beta_HSD	48	233	4.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107018
AA Change: I235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102632
Gene: ENSMUSG00000062410
AA Change: I235L

Domain	Start	End	E-Value	Type
Pfam:KR	5	132	8.2e-7	PFAM
Pfam:adh_short	5	133	3.9e-8	PFAM
Pfam:Polysacc_synt_2	6	134	3.5e-13	PFAM
Pfam:NmrA	6	136	2.5e-8	PFAM
Pfam:NAD_binding_10	6	237	5.8e-10	PFAM
Pfam:Epimerase	6	256	1.4e-27	PFAM
Pfam:3Beta_HSD	7	288	1.6e-114	PFAM
Pfam:NAD_binding_4	8	220	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107019
AA Change: I290L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102633
Gene: ENSMUSG00000062410
AA Change: I290L

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	135	1.9e-13	PFAM
Pfam:NmrA	6	137	5.6e-8	PFAM
Pfam:Epimerase	6	250	2e-26	PFAM
Pfam:GDP_Man_Dehyd	7	213	1.9e-13	PFAM
Pfam:3Beta_HSD	7	288	4.3e-116	PFAM
Pfam:NAD_binding_4	8	207	2.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146196

SMART Domains

Protein: ENSMUSP00000121360
Gene: ENSMUSG00000062410

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	4	174	1.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-9	PFAM
Pfam:KR	5	133	9.5e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.8e-14	PFAM
Pfam:NmrA	6	137	1.8e-9	PFAM
Pfam:Epimerase	6	187	2.2e-23	PFAM
Pfam:NAD_binding_10	6	187	1.4e-10	PFAM
Pfam:3Beta_HSD	7	187	9.3e-76	PFAM
Pfam:NAD_binding_4	8	176	6.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	T	11: 48,838,248 (GRCm39)	Y780N	probably benign	Het
Aadacl2	T	C	3: 59,932,609 (GRCm39)	S375P	probably damaging	Het
Abi1	A	C	2: 22,930,076 (GRCm39)	M1R	probably null	Het
Acss1	T	C	2: 150,471,788 (GRCm39)	D322G	probably damaging	Het
Adam22	G	A	5: 8,380,029 (GRCm39)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,648,275 (GRCm39)	H515R	probably benign	Het
C3	T	C	17: 57,527,113 (GRCm39)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,749,497 (GRCm39)	Y162H	probably damaging	Het
Chchd5	T	C	2: 128,975,188 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 16,321,620 (GRCm39)	I493F	probably damaging	Het
Daam1	A	T	12: 71,993,059 (GRCm39)	R349S	unknown	Het
Dnah11	T	C	12: 118,046,314 (GRCm39)	E1708G	probably benign	Het
Epg5	A	G	18: 78,056,085 (GRCm39)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,516,830 (GRCm39)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,946,375 (GRCm39)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,618,556 (GRCm39)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm39)	S70T	possibly damaging	Het
H2-K2	A	G	17: 34,218,466 (GRCm39)	L150P	probably damaging	Het
Iws1	A	G	18: 32,226,178 (GRCm39)	R689G	probably damaging	Het
Klk1b22	A	G	7: 43,765,630 (GRCm39)		probably null	Het
Klra4	T	A	6: 130,021,105 (GRCm39)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Liat1	A	G	11: 75,891,056 (GRCm39)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,240,968 (GRCm39)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,362,887 (GRCm39)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,116,624 (GRCm39)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,757,074 (GRCm39)	P283L	probably damaging	Het
Mynn	T	A	3: 30,667,693 (GRCm39)		probably benign	Het
Odr4	G	T	1: 150,247,784 (GRCm39)	N356K	possibly damaging	Het
Or4c1	A	C	2: 89,133,641 (GRCm39)	C98W	probably damaging	Het
Parl	T	A	16: 20,116,453 (GRCm39)	I116F	probably damaging	Het
Pdlim3	T	C	8: 46,338,630 (GRCm39)	V5A	probably damaging	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Ptprf	T	A	4: 118,070,839 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,235,139 (GRCm39)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps27a	C	A	11: 29,496,772 (GRCm39)	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,585,183 (GRCm39)		probably benign	Het
Scube3	G	T	17: 28,381,970 (GRCm39)	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,235,351 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,123,693 (GRCm39)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,847,597 (GRCm39)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,067,871 (GRCm39)	D1781V	probably damaging	Het
Ssr1	C	T	13: 38,171,492 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,064,283 (GRCm39)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,507,378 (GRCm39)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,496,354 (GRCm39)	H468L	probably benign	Het
Ttc27	C	T	17: 75,036,894 (GRCm39)	T189M	probably damaging	Het
Ttn	T	C	2: 76,720,500 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,590,239 (GRCm39)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,433,276 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Hsd3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Hsd3b3	APN	3	98,649,216 (GRCm39)	missense	probably benign	0.09
IGL01776:Hsd3b3	APN	3	98,651,163 (GRCm39)	missense	probably benign	0.05
R0689:Hsd3b3	UTSW	3	98,649,295 (GRCm39)	missense	possibly damaging	0.76
R0893:Hsd3b3	UTSW	3	98,649,757 (GRCm39)	splice site	probably null
R1759:Hsd3b3	UTSW	3	98,649,399 (GRCm39)	missense	probably damaging	0.96
R2008:Hsd3b3	UTSW	3	98,649,408 (GRCm39)	missense	probably damaging	1.00
R3931:Hsd3b3	UTSW	3	98,649,492 (GRCm39)	missense	probably damaging	1.00
R4614:Hsd3b3	UTSW	3	98,649,396 (GRCm39)	missense	probably benign	0.03
R4664:Hsd3b3	UTSW	3	98,649,532 (GRCm39)	missense	probably damaging	1.00
R4749:Hsd3b3	UTSW	3	98,649,931 (GRCm39)	missense	probably damaging	1.00
R4766:Hsd3b3	UTSW	3	98,649,801 (GRCm39)	missense	probably damaging	1.00
R4876:Hsd3b3	UTSW	3	98,649,960 (GRCm39)	missense	probably damaging	1.00
R5074:Hsd3b3	UTSW	3	98,649,340 (GRCm39)	missense	possibly damaging	0.94
R5622:Hsd3b3	UTSW	3	98,649,524 (GRCm39)	missense	possibly damaging	0.79
R6280:Hsd3b3	UTSW	3	98,660,621 (GRCm39)	splice site	probably null
R6348:Hsd3b3	UTSW	3	98,663,265 (GRCm39)	splice site	probably null
R7070:Hsd3b3	UTSW	3	98,649,787 (GRCm39)	missense	possibly damaging	0.64
R7283:Hsd3b3	UTSW	3	98,649,673 (GRCm39)	nonsense	probably null
R7747:Hsd3b3	UTSW	3	98,651,214 (GRCm39)	missense	possibly damaging	0.76
R8054:Hsd3b3	UTSW	3	98,649,331 (GRCm39)	missense	probably damaging	1.00
R8553:Hsd3b3	UTSW	3	98,651,205 (GRCm39)	missense	possibly damaging	0.87
R9130:Hsd3b3	UTSW	3	98,651,211 (GRCm39)	missense	possibly damaging	0.94
R9164:Hsd3b3	UTSW	3	98,660,689 (GRCm39)	missense	probably benign	0.00
R9333:Hsd3b3	UTSW	3	98,649,216 (GRCm39)	missense	probably benign	0.09
Z1176:Hsd3b3	UTSW	3	98,651,276 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16