Incidental Mutation 'R9019:Srd5a1'
ID 686626
Institutional Source Beutler Lab
Gene Symbol Srd5a1
Ensembl Gene ENSMUSG00000021594
Gene Name steroid 5 alpha-reductase 1
Synonyms 4930435F02Rik, Srd5a-1, 0610031P22Rik
MMRRC Submission 068849-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9019 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 69721568-69759561 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 69748413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 129 (R129*)
Ref Sequence ENSEMBL: ENSMUSP00000089097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091514] [ENSMUST00000143716]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000091514
AA Change: R129*
SMART Domains Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: R129*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,011,522 (GRCm39) T1174S Het
Aoc2 C T 11: 101,216,262 (GRCm39) P115L possibly damaging Het
Arhgef19 C T 4: 140,973,738 (GRCm39) P75L probably benign Het
Atad3a A G 4: 155,838,052 (GRCm39) V240A possibly damaging Het
AW551984 A T 9: 39,508,973 (GRCm39) L317* probably null Het
Bdkrb1 T C 12: 105,570,700 (GRCm39) S89P probably damaging Het
Bpifb4 T A 2: 153,790,607 (GRCm39) L166* probably null Het
Ccdc27 A G 4: 154,124,014 (GRCm39) V173A unknown Het
Ccl8 T C 11: 82,006,877 (GRCm39) V30A probably benign Het
Cdc16 C T 8: 13,831,501 (GRCm39) A578V probably benign Het
Cnksr1 T C 4: 133,959,365 (GRCm39) Y423C probably damaging Het
Cyp3a44 T C 5: 145,727,519 (GRCm39) D270G probably damaging Het
Ep300 A G 15: 81,532,730 (GRCm39) E1656G unknown Het
Eppk1 A G 15: 75,992,472 (GRCm39) F1470L probably benign Het
Fbxw16 T A 9: 109,270,135 (GRCm39) D202V probably damaging Het
Fndc3a G A 14: 72,811,840 (GRCm39) T330I probably benign Het
Gm36864 A T 7: 43,887,028 (GRCm39) Q307L probably benign Het
Gm37240 T C 3: 84,426,946 (GRCm39) E38G probably damaging Het
Gm6871 A T 7: 41,195,262 (GRCm39) C492S probably damaging Het
Gnaq T C 19: 16,355,638 (GRCm39) Y285H probably benign Het
Htt T A 5: 35,023,920 (GRCm39) F1723I probably damaging Het
Il21r G A 7: 125,231,472 (GRCm39) S300N probably damaging Het
Itm2b G A 14: 73,605,856 (GRCm39) probably benign Het
Kat6a T C 8: 23,425,754 (GRCm39) S1100P probably damaging Het
Kcnj2 T C 11: 110,963,415 (GRCm39) I269T probably damaging Het
Kmt2c G A 5: 25,488,208 (GRCm39) A4635V probably damaging Het
Kng2 A T 16: 22,847,546 (GRCm39) D38E probably damaging Het
Lgr5 A C 10: 115,314,454 (GRCm39) L161R probably damaging Het
Lrig2 A T 3: 104,368,914 (GRCm39) I923N probably benign Het
Mrgprh T C 17: 13,096,200 (GRCm39) S147P probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nsmaf A T 4: 6,418,523 (GRCm39) S427R probably damaging Het
Or8g53 G T 9: 39,684,038 (GRCm39) D19E probably benign Het
Pdcd11 G T 19: 47,101,658 (GRCm39) G948C probably damaging Het
Pdzd2 A G 15: 12,375,612 (GRCm39) Y1508H probably damaging Het
Prmt5 G T 14: 54,753,564 (GRCm39) A105E probably benign Het
Prr23a3 T C 9: 98,747,213 (GRCm39) S56P probably damaging Het
Slc44a2 A G 9: 21,265,077 (GRCm39) E705G probably damaging Het
Sostdc1 A T 12: 36,364,431 (GRCm39) N47Y probably benign Het
Speg T C 1: 75,405,882 (GRCm39) Y3029H probably damaging Het
Srrm4 A G 5: 116,605,586 (GRCm39) S224P unknown Het
Syne2 A G 12: 75,999,618 (GRCm39) E2337G possibly damaging Het
Tmem150c C A 5: 100,240,958 (GRCm39) V32L probably benign Het
Topaz1 T C 9: 122,619,192 (GRCm39) I1263T possibly damaging Het
Ttc39d C T 17: 80,523,349 (GRCm39) R3W probably benign Het
Xylt1 T C 7: 117,250,038 (GRCm39) probably null Het
Zfp933 A T 4: 147,911,021 (GRCm39) C192S probably damaging Het
Zswim8 G A 14: 20,761,119 (GRCm39) G129D 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
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
R9704:Srd5a1 UTSW 13 69,743,086 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGAAGCAACTCCTCTTCTTATAGAC -3'
(R):5'- AAATCAACAGGCGTGTGAGC -3'

Sequencing Primer
(F):5'- ATAGACTTGTGGTTCCCTCTCTAATG -3'
(R):5'- GTGCCATCTGTACAGGACAAGC -3'
Posted On 2021-11-19