Incidental Mutation 'R4553:1500011B03Rik'
ID 341774
Institutional Source Beutler Lab
Gene Symbol 1500011B03Rik
Ensembl Gene ENSMUSG00000072694
Gene Name RIKEN cDNA 1500011B03 gene
Synonyms
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4553 (G1)
Quality Score 118
Status Not validated
Chromosome 5
Chromosomal Location 114946257-114952037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114951254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 49 (Y49C)
Ref Sequence ENSEMBL: ENSMUSP00000055114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061251] [ENSMUST00000112160] [ENSMUST00000140374]
AlphaFold Q9CZU9
Predicted Effect probably damaging
Transcript: ENSMUST00000061251
AA Change: Y49C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055114
Gene: ENSMUSG00000072694
AA Change: Y49C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112160
SMART Domains Protein: ENSMUSP00000107786
Gene: ENSMUSG00000072694

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140374
SMART Domains Protein: ENSMUSP00000116625
Gene: ENSMUSG00000092252

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Adra2a T C 19: 54,035,166 (GRCm39) V174A possibly damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Dppa2 A G 16: 48,130,877 (GRCm39) Y3C possibly damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Garin1a A G 6: 29,287,705 (GRCm39) I210M probably benign Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Nog A G 11: 89,192,248 (GRCm39) L200P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in 1500011B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0354:1500011B03Rik UTSW 5 114,951,241 (GRCm39) missense possibly damaging 0.82
R1513:1500011B03Rik UTSW 5 114,947,334 (GRCm39) nonsense probably null
R4243:1500011B03Rik UTSW 5 114,951,855 (GRCm39) missense possibly damaging 0.66
R7899:1500011B03Rik UTSW 5 114,947,381 (GRCm39) missense possibly damaging 0.66
R8957:1500011B03Rik UTSW 5 114,951,891 (GRCm39) missense probably benign 0.01
Z1177:1500011B03Rik UTSW 5 114,951,933 (GRCm39) missense possibly damaging 0.66
Z1177:1500011B03Rik UTSW 5 114,947,348 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GCAGCTTCCTGAGGACCAG -3'
(R):5'- TCTCATATCGCCTCAGGGTT -3'

Sequencing Primer
(F):5'- TACTGCACATGGGCACATTG -3'
(R):5'- CATATCGCCTCAGGGTTATTGTTAG -3'
Posted On 2015-09-24