Incidental Mutation 'R2979:Srd5a1'
ID 257046
Institutional Source Beutler Lab
Gene Symbol Srd5a1
Ensembl Gene ENSMUSG00000021594
Gene Name steroid 5 alpha-reductase 1
Synonyms 4930435F02Rik, Srd5a-1, 0610031P22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R2979 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 69721568-69759561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69748418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 127 (Q127R)
Ref Sequence ENSEMBL: ENSMUSP00000089097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091514] [ENSMUST00000143716]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059235
Predicted Effect probably damaging
Transcript: ENSMUST00000091514
AA Change: Q127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: Q127R

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
transmembrane domain 83 102 N/A INTRINSIC
Pfam:DUF1295 104 242 4.6e-13 PFAM
Pfam:Steroid_dh 106 255 2.9e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148115
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
PHENOTYPE: Female mice homozygous for a targeted mutation exhibit parturiton defects and deliver small litters. Male homozygous mice appear healthy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm A G 5: 90,670,022 (GRCm39) I48V probably benign Het
Arhgef1 A G 7: 24,607,176 (GRCm39) E16G unknown Het
Cps1 T C 1: 67,243,863 (GRCm39) probably null Het
Dnah9 T C 11: 66,008,414 (GRCm39) K804E possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gm18025 G T 12: 34,340,970 (GRCm39) P41Q probably damaging Het
Kdm4c A T 4: 74,291,965 (GRCm39) R861* probably null Het
Klhl2 C T 8: 65,275,730 (GRCm39) V58I probably damaging Het
Msl1 G A 11: 98,691,050 (GRCm39) G178E possibly damaging Het
Nacad T A 11: 6,551,424 (GRCm39) Q589L probably benign Het
Pros1 A G 16: 62,734,229 (GRCm39) D345G probably damaging Het
Sh3tc2 A G 18: 62,122,556 (GRCm39) Y439C probably damaging Het
Smarcad1 T A 6: 65,051,995 (GRCm39) M376K probably benign Het
Synm T G 7: 67,386,008 (GRCm39) R551S probably damaging Het
Trmt1 A G 8: 85,423,511 (GRCm39) Y301C probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Txnl1 T C 18: 63,804,691 (GRCm39) T268A probably benign Het
Zbbx C A 3: 74,985,793 (GRCm39) E420* probably null Het
Zc3h7a A T 16: 10,976,837 (GRCm39) V153E probably damaging Het
Other mutations in Srd5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Srd5a1 APN 13 69,759,181 (GRCm39) nonsense probably null
R1328:Srd5a1 UTSW 13 69,723,310 (GRCm39) missense probably damaging 1.00
R2924:Srd5a1 UTSW 13 69,734,834 (GRCm39) missense probably damaging 1.00
R6787:Srd5a1 UTSW 13 69,759,418 (GRCm39) unclassified probably benign
R7332:Srd5a1 UTSW 13 69,759,173 (GRCm39) missense probably benign 0.01
R7995:Srd5a1 UTSW 13 69,759,338 (GRCm39) missense probably damaging 0.97
R9019:Srd5a1 UTSW 13 69,748,413 (GRCm39) nonsense probably null
R9704:Srd5a1 UTSW 13 69,743,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAACTCCTCTTCTTATAGACTTG -3'
(R):5'- GTAAATCAACAGGCGTGTGAGC -3'

Sequencing Primer
(F):5'- ATAGACTTGTGGTTCCCTCTCTAATG -3'
(R):5'- GTGCCATCTGTACAGGACAAGC -3'
Posted On 2015-01-11