Incidental Mutation 'R6023:Dhrs1'
ID 479057
Institutional Source Beutler Lab
Gene Symbol Dhrs1
Ensembl Gene ENSMUSG00000002332
Gene Name dehydrogenase/reductase 1
Synonyms 1110029G07Rik, dehydrogenase/reductase (SDR family) member 1
MMRRC Submission 044195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6023 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55976477-55983147 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55981127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 94 (Y94*)
Ref Sequence ENSEMBL: ENSMUSP00000002403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002403] [ENSMUST00000019441]
AlphaFold Q99L04
Predicted Effect probably null
Transcript: ENSMUST00000002403
AA Change: Y94*
SMART Domains Protein: ENSMUSP00000002403
Gene: ENSMUSG00000002332
AA Change: Y94*

DomainStartEndE-ValueType
Pfam:KR 8 114 1.5e-8 PFAM
Pfam:adh_short 8 209 2.4e-41 PFAM
Pfam:adh_short_C2 14 242 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019441
SMART Domains Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297

DomainStartEndE-ValueType
low complexity region 11 55 N/A INTRINSIC
Blast:Pumilio 92 127 3e-15 BLAST
Pumilio 189 220 2.74e2 SMART
Blast:Pumilio 263 298 3e-14 BLAST
Pumilio 314 349 4.38e1 SMART
Pumilio 351 387 1.03e1 SMART
Pumilio 509 546 1.72e1 SMART
Pumilio 547 582 9.17e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155969
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,757,843 (GRCm39) N1302S possibly damaging Het
Aff3 A T 1: 38,257,451 (GRCm39) S424T probably damaging Het
Ap2b1 C T 11: 83,226,224 (GRCm39) T207M probably damaging Het
Appl2 T C 10: 83,484,393 (GRCm39) Q18R probably null Het
Atrn T C 2: 130,862,900 (GRCm39) F1327L probably benign Het
Birc6 A T 17: 74,961,372 (GRCm39) I47F probably benign Het
Cdh23 A T 10: 60,301,321 (GRCm39) I451N probably damaging Het
Clec3a A G 8: 115,144,883 (GRCm39) T20A possibly damaging Het
Cpz T A 5: 35,669,922 (GRCm39) I252F probably benign Het
Ctc1 A G 11: 68,913,433 (GRCm39) D143G probably benign Het
Dnajc25 A G 4: 59,013,752 (GRCm39) K157E possibly damaging Het
Dpp6 T C 5: 27,928,545 (GRCm39) I789T probably damaging Het
Duox1 T G 2: 122,168,165 (GRCm39) F1097V probably benign Het
Ercc8 A G 13: 108,315,111 (GRCm39) T242A probably damaging Het
Evc2 T A 5: 37,505,960 (GRCm39) M93K probably benign Het
Glra1 A T 11: 55,424,679 (GRCm39) V94E probably damaging Het
Got1l1 A T 8: 27,689,932 (GRCm39) Y151* probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Ighv1-72 T A 12: 115,721,532 (GRCm39) probably benign Het
Kel C A 6: 41,674,409 (GRCm39) E340D probably benign Het
Kif11 A G 19: 37,379,158 (GRCm39) E283G probably damaging Het
Klk4 T G 7: 43,533,482 (GRCm39) F114V probably benign Het
Krt7 T C 15: 101,310,278 (GRCm39) probably benign Het
Lrrc74a A G 12: 86,805,380 (GRCm39) I401V probably damaging Het
Luzp2 T C 7: 54,707,815 (GRCm39) S68P possibly damaging Het
Naip1 T C 13: 100,562,694 (GRCm39) T824A probably benign Het
Nav3 T C 10: 109,659,376 (GRCm39) Q747R possibly damaging Het
Or13p4 T A 4: 118,547,271 (GRCm39) Y126F probably damaging Het
Or1j11 A G 2: 36,311,523 (GRCm39) T38A probably damaging Het
Or4c107 A G 2: 88,789,059 (GRCm39) D83G possibly damaging Het
Or51f1 T C 7: 102,506,169 (GRCm39) I107V possibly damaging Het
Or52h2 T C 7: 103,838,880 (GRCm39) H178R probably damaging Het
Or5b120 A G 19: 13,480,067 (GRCm39) D120G probably damaging Het
Or7g22 A C 9: 19,049,021 (GRCm39) H244P probably damaging Het
Pcdhb11 T C 18: 37,555,978 (GRCm39) I436T possibly damaging Het
Pfdn2 T C 1: 171,184,319 (GRCm39) Y65H probably damaging Het
Polr2h T C 16: 20,537,776 (GRCm39) Y58H probably benign Het
Prrt4 G A 6: 29,176,452 (GRCm39) P291L probably benign Het
Psg29 G T 7: 16,944,437 (GRCm39) V316L possibly damaging Het
Rnf112 T A 11: 61,340,555 (GRCm39) E525V probably damaging Het
Sgms1 T C 19: 32,101,773 (GRCm39) K411R probably benign Het
Sh3tc1 T A 5: 35,864,295 (GRCm39) K631* probably null Het
Syne1 T C 10: 5,393,223 (GRCm39) M48V probably benign Het
Thrb C T 14: 18,011,209 (GRCm38) T226I probably damaging Het
Trim67 A T 8: 125,541,843 (GRCm39) D347V probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn G T 2: 76,565,744 (GRCm39) L19876I probably damaging Het
Vars1 C T 17: 35,220,585 (GRCm39) R56C probably damaging Het
Vmn1r9 A G 6: 57,048,239 (GRCm39) I105V probably benign Het
Vps8 C A 16: 21,279,988 (GRCm39) T313K probably benign Het
Other mutations in Dhrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03148:Dhrs1 APN 14 55,978,748 (GRCm39) nonsense probably null
R0113:Dhrs1 UTSW 14 55,977,396 (GRCm39) missense probably benign 0.00
R1104:Dhrs1 UTSW 14 55,981,162 (GRCm39) missense probably benign 0.00
R1756:Dhrs1 UTSW 14 55,976,766 (GRCm39) missense probably benign 0.06
R2086:Dhrs1 UTSW 14 55,981,116 (GRCm39) missense probably null 0.01
R4820:Dhrs1 UTSW 14 55,977,083 (GRCm39) missense possibly damaging 0.60
R6546:Dhrs1 UTSW 14 55,978,729 (GRCm39) missense possibly damaging 0.83
R7163:Dhrs1 UTSW 14 55,976,838 (GRCm39) missense probably benign 0.16
R8730:Dhrs1 UTSW 14 55,980,978 (GRCm39) missense probably benign 0.00
R8807:Dhrs1 UTSW 14 55,982,499 (GRCm39) missense probably damaging 1.00
R8892:Dhrs1 UTSW 14 55,977,404 (GRCm39) missense possibly damaging 0.93
R8968:Dhrs1 UTSW 14 55,978,192 (GRCm39) missense probably benign
R8995:Dhrs1 UTSW 14 55,977,396 (GRCm39) missense probably benign 0.02
R9008:Dhrs1 UTSW 14 55,978,638 (GRCm39) critical splice donor site probably null
R9477:Dhrs1 UTSW 14 55,976,868 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TGAAGCACACACCTGAGTCC -3'
(R):5'- GTGACACTGCTGTGAACTCATC -3'

Sequencing Primer
(F):5'- CAAATGGAGGCAGGCACTTCC -3'
(R):5'- GCTGTGAACTCATCCTCGCTG -3'
Posted On 2017-06-26