Incidental Mutation 'IGL01129:Srd5a3'
ID51162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srd5a3
Ensembl Gene ENSMUSG00000029233
Gene Namesteroid 5 alpha-reductase 3
SynonymsD730040M03Rik, 1110025P14Rik, Srd5a2l
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01129
Quality Score
Status
Chromosome5
Chromosomal Location76140271-76155504 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 76149746 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031143] [ENSMUST00000113506] [ENSMUST00000113507] [ENSMUST00000127278] [ENSMUST00000152642]
Predicted Effect probably benign
Transcript: ENSMUST00000031143
SMART Domains Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233

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 noncoding transcript
Transcript: ENSMUST00000124217
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 67,920,604 F216L possibly damaging Het
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ckap2 C T 8: 22,169,758 G569D probably damaging Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Creb3l2 A T 6: 37,353,634 probably benign Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Olfr6 T C 7: 106,956,427 N170D probably damaging Het
Pfn4 T A 12: 4,775,505 V114E probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in Srd5a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Srd5a3 APN 5 76147709 missense probably benign 0.05
R1055:Srd5a3 UTSW 5 76153638 missense probably benign 0.30
R1777:Srd5a3 UTSW 5 76149783 missense probably damaging 0.96
R1914:Srd5a3 UTSW 5 76147705 missense probably benign
R1915:Srd5a3 UTSW 5 76147705 missense probably benign
R4357:Srd5a3 UTSW 5 76147700 missense probably damaging 0.99
R4359:Srd5a3 UTSW 5 76147700 missense probably damaging 0.99
R4537:Srd5a3 UTSW 5 76149951 critical splice donor site probably null
R5714:Srd5a3 UTSW 5 76153566 missense probably benign 0.06
R6762:Srd5a3 UTSW 5 76153551 missense probably benign
R7009:Srd5a3 UTSW 5 76149866 missense probably benign 0.00
R7130:Srd5a3 UTSW 5 76149837 missense possibly damaging 0.87
R7185:Srd5a3 UTSW 5 76153572 missense probably benign 0.09
R7427:Srd5a3 UTSW 5 76154643 missense probably benign 0.00
Z1088:Srd5a3 UTSW 5 76149821 missense possibly damaging 0.90
Posted On2013-06-21