Incidental Mutation 'R9704:Srd5a1'
ID 729723
Institutional Source Beutler Lab
Gene Symbol Srd5a1
Ensembl Gene ENSMUSG00000021594
Gene Name steroid 5 alpha-reductase 1
Synonyms 4930435F02Rik, Srd5a-1, 0610031P22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 69721568-69759561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69743086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 167 (I167F)
Ref Sequence ENSEMBL: ENSMUSP00000089097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091514] [ENSMUST00000143716]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000091514
AA Change: I167F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: I167F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C T 1: 11,588,913 (GRCm39) P110L probably damaging Het
Aass C A 6: 23,120,887 (GRCm39) V126F possibly damaging Het
Adamts13 G T 2: 26,895,237 (GRCm39) Q1109H Het
Ccdc57 A C 11: 120,764,531 (GRCm39) V748G probably damaging Het
Dclk2 A G 3: 86,827,387 (GRCm39) S31P possibly damaging Het
Dnah5 C G 15: 28,247,965 (GRCm39) P701A probably benign Het
Epc1 T C 18: 6,440,130 (GRCm39) T642A probably damaging Het
Fam149a G A 8: 45,795,502 (GRCm39) R670W probably benign Het
Fgfr1 A G 8: 26,063,579 (GRCm39) D646G probably benign Het
Gabrr2 G A 4: 33,063,305 (GRCm39) V43M possibly damaging Het
Gli3 T A 13: 15,898,058 (GRCm39) C713S probably damaging Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hk3 A G 13: 55,160,253 (GRCm39) probably null Het
Ighv2-9 T A 12: 113,842,746 (GRCm39) D107V possibly damaging Het
Jak2 C A 19: 29,275,730 (GRCm39) C723* probably null Het
Lcor T C 19: 41,572,498 (GRCm39) S418P possibly damaging Het
Lnx1 A T 5: 74,780,879 (GRCm39) V214E probably benign Het
Luzp1 T A 4: 136,268,604 (GRCm39) S276T probably benign Het
Meig1 A G 2: 3,410,336 (GRCm39) Y55H probably damaging Het
Myh2 A T 11: 67,071,617 (GRCm39) Q478L possibly damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nxph2 T C 2: 23,289,723 (GRCm39) V25A probably benign Het
Onecut1 G A 9: 74,770,258 (GRCm39) G227D probably benign Het
Phf2 G T 13: 48,959,374 (GRCm39) D877E unknown Het
Pik3cd C A 4: 149,739,839 (GRCm39) R548L probably benign Het
Pp2d1 T C 17: 53,822,907 (GRCm39) E53G probably benign Het
Rtel1 C T 2: 180,993,905 (GRCm39) Q830* probably null Het
Ryr2 T C 13: 11,737,646 (GRCm39) Y2219C probably damaging Het
Spag11b A G 8: 19,191,474 (GRCm39) N49S probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Sv2b T G 7: 74,797,420 (GRCm39) M325L possibly damaging Het
Tpsb2 A G 17: 25,585,834 (GRCm39) I57M probably benign Het
Ttf2 T C 3: 100,859,920 (GRCm39) E678G probably damaging Het
Ulk2 A G 11: 61,716,694 (GRCm39) F270S probably damaging Het
Unc13b G A 4: 43,237,102 (GRCm39) V603I probably benign 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
R2979:Srd5a1 UTSW 13 69,748,418 (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
Predicted Primers PCR Primer
(F):5'- AGTGTGCAAAGCAACTGTGTAG -3'
(R):5'- TCGCACTGGTACATGTGGTG -3'

Sequencing Primer
(F):5'- GCAACTGTGTAGCAACTCCATG -3'
(R):5'- TGTTGCTGTGAGCCACTG -3'
Posted On 2022-10-06