Incidental Mutation 'R0007:Denr'
ID 64847
Institutional Source Beutler Lab
Gene Symbol Denr
Ensembl Gene ENSMUSG00000023106
Gene Name density-regulated protein
Synonyms 1500003K04Rik
MMRRC Submission 038302-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0007 (G1)
Quality Score 143
Status Validated
Chromosome 5
Chromosomal Location 124045309-124066705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124062877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 127 (Y127N)
Ref Sequence ENSEMBL: ENSMUSP00000023869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023869] [ENSMUST00000166129] [ENSMUST00000166233]
AlphaFold Q9CQJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000023869
AA Change: Y127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023869
Gene: ENSMUSG00000023106
AA Change: Y127N

DomainStartEndE-ValueType
Pfam:SUI1 111 184 3.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166129
SMART Domains Protein: ENSMUSP00000143501
Gene: ENSMUSG00000105875

DomainStartEndE-ValueType
coiled coil region 16 109 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166233
AA Change: Y127N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126174
Gene: ENSMUSG00000023106
AA Change: Y127N

DomainStartEndE-ValueType
Pfam:SUI1 108 183 4e-19 PFAM
Meta Mutation Damage Score 0.2557 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.5%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,270,562 (GRCm39) Y543N probably damaging Het
Adgrb3 C A 1: 25,150,772 (GRCm39) probably null Het
AI504432 T A 3: 106,956,152 (GRCm39) noncoding transcript Het
Cd82 T C 2: 93,264,226 (GRCm39) N39S probably benign Het
Cntnap2 A C 6: 45,969,007 (GRCm39) N250H possibly damaging Het
Col7a1 T C 9: 108,790,471 (GRCm39) V973A unknown Het
Cyp2c66 T A 19: 39,159,402 (GRCm39) C284* probably null Het
Diaph3 C A 14: 87,104,056 (GRCm39) R776L possibly damaging Het
Gm5600 T A 7: 113,307,010 (GRCm39) noncoding transcript Het
Hephl1 A T 9: 14,997,471 (GRCm39) D398E possibly damaging Het
Lama3 T A 18: 12,630,938 (GRCm39) probably benign Het
Mtrr A T 13: 68,723,449 (GRCm39) F154L probably benign Het
Myo1b T A 1: 51,815,413 (GRCm39) R650S probably damaging Het
Nek10 T A 14: 14,840,574 (GRCm38) H153Q probably benign Het
Nelfe A G 17: 35,072,962 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,250,515 (GRCm39) probably benign Het
Nos1 T C 5: 118,048,153 (GRCm39) S653P probably damaging Het
Or5p76 A G 7: 108,122,420 (GRCm39) S246P probably damaging Het
Or8b101 A T 9: 38,020,390 (GRCm39) Y131F possibly damaging Het
Pcsk5 C A 19: 17,632,225 (GRCm39) G314C probably damaging Het
Ralgps1 A G 2: 33,033,401 (GRCm39) S393P probably damaging Het
Slc44a4 G A 17: 35,140,230 (GRCm39) A60T probably damaging Het
Slc4a4 G A 5: 89,186,437 (GRCm39) D173N probably damaging Het
Sparcl1 T A 5: 104,234,946 (GRCm39) Q523L probably damaging Het
Srgap3 A G 6: 112,806,473 (GRCm39) Y63H probably damaging Het
Trim16 A G 11: 62,719,944 (GRCm39) M84V probably benign Het
Trpm3 G A 19: 22,964,893 (GRCm39) A1453T probably benign Het
Ttn C T 2: 76,710,548 (GRCm39) probably benign Het
Other mutations in Denr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Denr APN 5 124,046,182 (GRCm39) missense probably benign 0.19
R0007:Denr UTSW 5 124,062,877 (GRCm39) missense probably damaging 1.00
R0025:Denr UTSW 5 124,065,298 (GRCm39) unclassified probably benign
R0079:Denr UTSW 5 124,062,908 (GRCm39) missense probably damaging 1.00
R0567:Denr UTSW 5 124,046,221 (GRCm39) missense probably benign 0.01
R1818:Denr UTSW 5 124,055,283 (GRCm39) missense probably benign 0.00
R5125:Denr UTSW 5 124,065,144 (GRCm39) missense probably damaging 1.00
R6930:Denr UTSW 5 124,046,250 (GRCm39) missense probably benign 0.02
R7657:Denr UTSW 5 124,046,263 (GRCm39) missense probably damaging 0.96
R8379:Denr UTSW 5 124,065,124 (GRCm39) missense possibly damaging 0.59
R8970:Denr UTSW 5 124,055,279 (GRCm39) missense probably damaging 1.00
R9680:Denr UTSW 5 124,065,117 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CAGCCGTTTGTCTTCACCTGTGTA -3'
(R):5'- GGATGCAGCTTCTCCAAAGCCAC -3'

Sequencing Primer
(F):5'- cagcacatagtaggcaccag -3'
(R):5'- TTCTCCAAAGCCACAAACACAAG -3'
Posted On 2013-08-06