Incidental Mutation 'IGL02900:2300003K06Rik'
ID 363535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2300003K06Rik
Ensembl Gene ENSMUSG00000078257
Gene Name RIKEN cDNA 2300003K06 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02900
Quality Score
Status
Chromosome 11
Chromosomal Location 99727974-99728892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99728774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 23 (T23N)
Ref Sequence ENSEMBL: ENSMUSP00000100675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105054]
AlphaFold A2A4M0
Predicted Effect possibly damaging
Transcript: ENSMUST00000105054
AA Change: T23N

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100675
Gene: ENSMUSG00000078257
AA Change: T23N

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 1.5e-9 PFAM
Pfam:Keratin_B2_2 34 78 1.9e-9 PFAM
Pfam:Keratin_B2_2 61 116 1.3e-4 PFAM
Pfam:Keratin_B2_2 99 142 4.2e-6 PFAM
Pfam:Keratin_B2_2 114 162 1.1e-5 PFAM
Pfam:Keratin_B2_2 158 202 4.4e-12 PFAM
Pfam:Keratin_B2_2 188 236 1.6e-9 PFAM
Pfam:Keratin_B2_2 231 262 6.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120751
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 T A 2: 151,753,391 (GRCm39) V47E probably damaging Het
Arhgef11 G A 3: 87,640,467 (GRCm39) R1208Q probably benign Het
Calb1 T C 4: 15,895,695 (GRCm39) probably benign Het
Capn11 G T 17: 45,941,540 (GRCm39) probably null Het
Carmil2 T A 8: 106,422,151 (GRCm39) I1140N probably damaging Het
Cnn3 A T 3: 121,245,143 (GRCm39) T23S probably benign Het
Colgalt2 C T 1: 152,384,481 (GRCm39) T607M probably damaging Het
Cyp46a1 T G 12: 108,309,350 (GRCm39) V93G probably damaging Het
Dcaf6 T C 1: 165,227,344 (GRCm39) Y261C probably damaging Het
Dnah10 A G 5: 124,878,886 (GRCm39) Y2715C probably damaging Het
Dsg1a G T 18: 20,461,713 (GRCm39) probably benign Het
Eml4 C T 17: 83,785,421 (GRCm39) P862L probably benign Het
Gm5414 T C 15: 101,536,242 (GRCm39) T128A probably damaging Het
Gp9 G T 6: 87,756,415 (GRCm39) W143C probably damaging Het
Hipk2 T C 6: 38,706,879 (GRCm39) I670V probably damaging Het
Hoxa10 T C 6: 52,209,541 (GRCm39) K77R possibly damaging Het
Kcna1 T G 6: 126,620,057 (GRCm39) S88R probably damaging Het
Kif1b A T 4: 149,265,266 (GRCm39) S1758T possibly damaging Het
Klk1b11 A G 7: 43,427,837 (GRCm39) T182A probably damaging Het
Lrp1 G A 10: 127,412,516 (GRCm39) probably benign Het
Magi1 A G 6: 93,663,854 (GRCm39) S991P probably damaging Het
Mast4 T A 13: 102,872,184 (GRCm39) T2203S probably benign Het
Mxra8 A G 4: 155,925,576 (GRCm39) E95G possibly damaging Het
Mxra8 A G 4: 155,925,668 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or14j9 A G 17: 37,874,740 (GRCm39) I154T possibly damaging Het
Or2f2 T A 6: 42,767,808 (GRCm39) Y278* probably null Het
Or8g2b T A 9: 39,751,108 (GRCm39) I126N probably damaging Het
Or8g4 A T 9: 39,661,901 (GRCm39) H73L probably benign Het
Pbx4 A G 8: 70,319,216 (GRCm39) E249G probably damaging Het
Pkd1l2 T C 8: 117,750,830 (GRCm39) E1727G probably benign Het
Plec T G 15: 76,070,414 (GRCm39) D932A probably damaging Het
Pramel22 A T 4: 143,382,085 (GRCm39) F204I possibly damaging Het
Raph1 T C 1: 60,542,022 (GRCm39) D364G probably damaging Het
Rps29 T A 12: 69,205,825 (GRCm39) H3L probably damaging Het
Sema4c A T 1: 36,589,826 (GRCm39) C509* probably null Het
Srgap2 A T 1: 131,339,534 (GRCm39) probably benign Het
Stam2 A T 2: 52,598,209 (GRCm39) D243E probably benign Het
Stxbp4 A G 11: 90,497,861 (GRCm39) L146P probably benign Het
Teddm3 G T 16: 20,971,900 (GRCm39) T223K probably benign Het
Tfap2d A T 1: 19,189,474 (GRCm39) N285Y probably damaging Het
Tmprss3 T A 17: 31,403,553 (GRCm39) D416V probably damaging Het
Vmn1r71 T A 7: 10,482,601 (GRCm39) Y29F probably benign Het
Vmn2r84 T C 10: 130,223,861 (GRCm39) probably benign Het
Washc2 G T 6: 116,204,435 (GRCm39) D362Y probably damaging Het
Wbp2nl T C 15: 82,198,035 (GRCm39) S191P probably benign Het
Zfp608 T C 18: 55,079,865 (GRCm39) T307A probably damaging Het
Zfp970 T C 2: 177,166,610 (GRCm39) probably benign Het
Other mutations in 2300003K06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:2300003K06Rik APN 11 99,728,454 (GRCm39) nonsense probably null
IGL03148:2300003K06Rik APN 11 99,728,079 (GRCm39) missense unknown
R1445:2300003K06Rik UTSW 11 99,728,793 (GRCm39) missense probably benign 0.03
R2054:2300003K06Rik UTSW 11 99,728,562 (GRCm39) missense possibly damaging 0.71
R2273:2300003K06Rik UTSW 11 99,728,667 (GRCm39) missense possibly damaging 0.93
R2274:2300003K06Rik UTSW 11 99,728,667 (GRCm39) missense possibly damaging 0.93
R2275:2300003K06Rik UTSW 11 99,728,667 (GRCm39) missense possibly damaging 0.93
R5153:2300003K06Rik UTSW 11 99,728,073 (GRCm39) missense unknown
R5901:2300003K06Rik UTSW 11 99,728,163 (GRCm39) missense unknown
R6218:2300003K06Rik UTSW 11 99,728,730 (GRCm39) missense probably benign 0.28
R6224:2300003K06Rik UTSW 11 99,728,840 (GRCm39) start codon destroyed probably null 0.09
Posted On 2015-12-18