Incidental Mutation 'IGL02172:Srd5a3'
ID 282929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srd5a3
Ensembl Gene ENSMUSG00000029233
Gene Name steroid 5 alpha-reductase 3
Synonyms Srd5a2l, 1110025P14Rik, D730040M03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02172
Quality Score
Status
Chromosome 5
Chromosomal Location 76288118-76303351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76295556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000031143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278] [ENSMUST00000152642]
AlphaFold Q9WUP4
Predicted Effect probably benign
Transcript: ENSMUST00000031143
AA Change: I82T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: I82T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 132 150 N/A INTRINSIC
Pfam:Steroid_dh 168 330 4.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113506
SMART Domains Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Steroid_dh 44 206 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113507
SMART Domains Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Steroid_dh 44 206 2.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127278
SMART Domains Protein: ENSMUSP00000116801
Gene: ENSMUSG00000029233

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138699
Predicted Effect probably benign
Transcript: ENSMUST00000152642
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Hecw1 T C 13: 14,438,734 (GRCm39) Y883C probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Mrpl1 T C 5: 96,379,574 (GRCm39) V203A probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprn2 A T 12: 116,837,317 (GRCm39) probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Sh3d21 A G 4: 126,046,153 (GRCm39) S282P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Stard7 C A 2: 127,132,792 (GRCm39) T220N probably damaging Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Srd5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Srd5a3 APN 5 76,297,593 (GRCm39) splice site probably benign
R1055:Srd5a3 UTSW 5 76,301,485 (GRCm39) missense probably benign 0.30
R1777:Srd5a3 UTSW 5 76,297,630 (GRCm39) missense probably damaging 0.96
R1914:Srd5a3 UTSW 5 76,295,552 (GRCm39) missense probably benign
R1915:Srd5a3 UTSW 5 76,295,552 (GRCm39) missense probably benign
R4357:Srd5a3 UTSW 5 76,295,547 (GRCm39) missense probably damaging 0.99
R4359:Srd5a3 UTSW 5 76,295,547 (GRCm39) missense probably damaging 0.99
R4537:Srd5a3 UTSW 5 76,297,798 (GRCm39) critical splice donor site probably null
R5714:Srd5a3 UTSW 5 76,301,413 (GRCm39) missense probably benign 0.06
R6762:Srd5a3 UTSW 5 76,301,398 (GRCm39) missense probably benign
R7009:Srd5a3 UTSW 5 76,297,713 (GRCm39) missense probably benign 0.00
R7130:Srd5a3 UTSW 5 76,297,684 (GRCm39) missense possibly damaging 0.87
R7185:Srd5a3 UTSW 5 76,301,419 (GRCm39) missense probably benign 0.09
R7427:Srd5a3 UTSW 5 76,302,490 (GRCm39) missense probably benign 0.00
R7778:Srd5a3 UTSW 5 76,302,618 (GRCm39) missense probably damaging 0.99
R7824:Srd5a3 UTSW 5 76,302,618 (GRCm39) missense probably damaging 0.99
R7861:Srd5a3 UTSW 5 76,295,666 (GRCm39) nonsense probably null
R7869:Srd5a3 UTSW 5 76,295,583 (GRCm39) missense probably damaging 1.00
R8472:Srd5a3 UTSW 5 76,297,648 (GRCm39) missense possibly damaging 0.89
R8966:Srd5a3 UTSW 5 76,301,437 (GRCm39) missense probably benign 0.22
R8969:Srd5a3 UTSW 5 76,301,493 (GRCm39) missense probably benign 0.01
R9150:Srd5a3 UTSW 5 76,297,615 (GRCm39) missense probably damaging 1.00
R9516:Srd5a3 UTSW 5 76,297,794 (GRCm39) missense probably benign 0.07
Z1088:Srd5a3 UTSW 5 76,297,668 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16