Incidental Mutation 'IGL01066:2300003K06Rik'
ID 52206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2300003K06Rik
Ensembl Gene ENSMUSG00000078257
Gene Name RIKEN cDNA 2300003K06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01066
Quality Score
Status
Chromosome 11
Chromosomal Location 99836802-99838066 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 99837628 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 130 (R130*)
Ref Sequence ENSEMBL: ENSMUSP00000100675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105054]
AlphaFold A2A4M0
Predicted Effect probably null
Transcript: ENSMUST00000105054
AA Change: R130*
SMART Domains Protein: ENSMUSP00000100675
Gene: ENSMUSG00000078257
AA Change: R130*

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lig3 T A 11: 82,797,315 M714K possibly damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr1392 T C 11: 49,293,630 I103T possibly damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Polr1b C T 2: 129,119,152 S677L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tedc1 A G 12: 113,163,150 E344G probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Vwc2l T C 1: 70,728,911 F45L probably damaging Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in 2300003K06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:2300003K06Rik APN 11 99837948 missense possibly damaging 0.60
IGL03148:2300003K06Rik APN 11 99837253 missense unknown
R1445:2300003K06Rik UTSW 11 99837967 missense probably benign 0.03
R2054:2300003K06Rik UTSW 11 99837736 missense possibly damaging 0.71
R2273:2300003K06Rik UTSW 11 99837841 missense possibly damaging 0.93
R2274:2300003K06Rik UTSW 11 99837841 missense possibly damaging 0.93
R2275:2300003K06Rik UTSW 11 99837841 missense possibly damaging 0.93
R5153:2300003K06Rik UTSW 11 99837247 missense unknown
R5901:2300003K06Rik UTSW 11 99837337 missense unknown
R6218:2300003K06Rik UTSW 11 99837904 missense probably benign 0.28
R6224:2300003K06Rik UTSW 11 99838014 start codon destroyed probably null 0.09
Posted On 2013-06-21