Incidental Mutation 'D4043:1110020G09Rik'
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ID267
Institutional Source Beutler Lab
Gene Symbol 1110020G09Rik
Ensembl Gene ENSMUSG00000022253
Gene Name
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome15
Chromosomal Location (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 9103385 bp
ZygosityHomozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]
Predicted Effect probably benign
Transcript: ENSMUST00000067760
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100789
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100790
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 312 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186069
Predicted Effect probably benign
Transcript: ENSMUST00000188194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228453
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029J07Rik A G 8: 45,956,403 V293A probably damaging Het
Adam29 A T 8: 55,872,461 C319* probably null Het
Adgrg1 T C 8: 95,005,229 probably null Homo
Ago3 A T 4: 126,351,003 V630E probably damaging Het
Armc8 G T 9: 99,483,976 N628K probably benign Het
Chd7 A G 4: 8,862,650 D2579G probably damaging Het
Duox1 G A 2: 122,344,795 C1358Y probably benign Het
Fam208a A G 14: 27,471,992 I1050V probably benign Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Homo
Iqub C T 6: 24,505,751 E53K possibly damaging Het
Kirrel T A 3: 87,083,203 T771S probably benign Het
Lrrc66 A T 5: 73,607,526 S725T probably benign Het
Mael T C 1: 166,236,886 I104M probably benign Homo
Mkks C T 2: 136,874,610 V457I probably benign Het
Npas1 T C 7: 16,463,244 probably null Het
Ocrl T C X: 47,936,323 V359A probably benign Homo
Olfr1065 G A 2: 86,445,220 T254M probably damaging Het
Pde6b C T 5: 108,425,356 R531* probably null Het
Polr1a G A 6: 71,941,417 C653Y possibly damaging Het
Rbm26 A G 14: 105,152,540 V216A possibly damaging Het
Rin2 C A 2: 145,822,363 H52Q possibly damaging Het
Ssc5d C T 7: 4,943,983 T1112I possibly damaging Het
Sv2c C T 13: 96,088,481 V107M probably benign Het
Tulp3 G A 6: 128,324,150 S366L probably benign Het
Zfp831 T A 2: 174,645,266 V578E probably benign Homo
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at base pair 9033142 in the Genbank genomic region NC_000081 (Build 37.1) for the 1110020G09Rik gene on Chromosome 7 (GTTGGTACCA ->GTTGGAACCA). The mutation is located within intron 6 from the ATG exon, six nucleotides from the previous exon. The 1110020G09Rik gene contains 13 total exons, and 11 coding exons. Three transcripts of the 1110020G09Rik gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

 

 

Protein Function and Prediction
The 1110020G09Rikgene encodes multiple isoforms of a protein that is a member of the UPF0465 family of ATP-NAD kinases. These proteins catalyze the phosphorylation of NAD to NADP utilizing ATP and other nucleoside triphosphates as well as inorganic polyphosphate as a source of phosphorus. The longest isoform is 452 amino acids long (Uniprot Q8C5H8).
Posted On2010-08-13