Incidental Mutation 'E0354:1500011B03Rik'
ID 233293
Institutional Source Beutler Lab
Gene Symbol 1500011B03Rik
Ensembl Gene ENSMUSG00000072694
Gene Name RIKEN cDNA 1500011B03 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # E0354 (G1)
Quality Score 117
Status Not validated
Chromosome 5
Chromosomal Location 114946257-114952037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114951241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 53 (N53K)
Ref Sequence ENSEMBL: ENSMUSP00000055114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061251] [ENSMUST00000112160] [ENSMUST00000140374]
AlphaFold Q9CZU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000061251
AA Change: N53K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055114
Gene: ENSMUSG00000072694
AA Change: N53K

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: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dync1li2 T C 8: 105,152,099 (GRCm39) D358G probably damaging Het
Gabra4 C G 5: 71,798,204 (GRCm39) D208H probably damaging Het
Gata5 GCCC GCC 2: 179,975,758 (GRCm39) probably null Het
Gdi2 T A 13: 3,611,939 (GRCm39) probably null Het
Hdac5 TTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTC 11: 102,092,972 (GRCm39) probably benign Het
Tlr3 A T 8: 45,853,857 (GRCm39) D154E probably damaging Het
Trap1 G T 16: 3,883,152 (GRCm39) P141Q probably benign Het
Trav8d-2 T A 14: 53,280,051 (GRCm39) probably benign Het
Trim9 G A 12: 70,319,233 (GRCm39) P412S probably benign Het
Zfp827 A G 8: 79,863,206 (GRCm39) D763G probably damaging Het
Other mutations in 1500011B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1513:1500011B03Rik UTSW 5 114,947,334 (GRCm39) nonsense probably null
R4243:1500011B03Rik UTSW 5 114,951,855 (GRCm39) missense possibly damaging 0.66
R4553:1500011B03Rik UTSW 5 114,951,254 (GRCm39) missense probably damaging 0.97
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'- AAAGCAGCTTCCTGAGGACC -3'
(R):5'- CGCCTCAGGGTTATTGTTAGT -3'

Sequencing Primer
(F):5'- TACTGCACATGGGCACATTG -3'
(R):5'- CGCCTCAGGGTTATTGTTAGTGAATC -3'
Posted On 2014-10-01