Incidental Mutation 'IGL01412:6030458C11Rik'
ID 80086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6030458C11Rik
Ensembl Gene ENSMUSG00000022195
Gene Name RIKEN cDNA 6030458C11 gene
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # IGL01412
Quality Score
Status
Chromosome 15
Chromosomal Location 12808263-12824735 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 12815958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 222 (Q222*)
Ref Sequence ENSEMBL: ENSMUSP00000154147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057256] [ENSMUST00000227299] [ENSMUST00000228177]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000057256
AA Change: Q323*
SMART Domains Protein: ENSMUSP00000055656
Gene: ENSMUSG00000022195
AA Change: Q323*

DomainStartEndE-ValueType
Pfam:UPF0489 19 256 7.2e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000227299
AA Change: Q239*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227821
Predicted Effect probably null
Transcript: ENSMUST00000228177
AA Change: Q222*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228888
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
Cops8 G T 1: 90,532,153 (GRCm39) L45F possibly damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Fhit G T 14: 9,870,065 (GRCm38) H72N probably damaging Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Gemin4 A T 11: 76,104,311 (GRCm39) V150D probably benign Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Man1a A G 10: 53,950,810 (GRCm39) V195A probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or51q1c T A 7: 103,652,842 (GRCm39) M120K probably damaging Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in 6030458C11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02366:6030458C11Rik APN 15 12,810,859 (GRCm39) missense probably benign 0.40
IGL02660:6030458C11Rik APN 15 12,810,853 (GRCm39) missense probably damaging 1.00
R1869:6030458C11Rik UTSW 15 12,817,993 (GRCm39) missense probably damaging 1.00
R5919:6030458C11Rik UTSW 15 12,823,754 (GRCm39) missense probably damaging 1.00
R6853:6030458C11Rik UTSW 15 12,818,031 (GRCm39) missense probably benign
R6875:6030458C11Rik UTSW 15 12,812,154 (GRCm39) missense probably damaging 0.98
R8013:6030458C11Rik UTSW 15 12,824,615 (GRCm39) missense probably benign 0.15
R8014:6030458C11Rik UTSW 15 12,824,615 (GRCm39) missense probably benign 0.15
R8460:6030458C11Rik UTSW 15 12,818,545 (GRCm39) intron probably benign
Posted On 2013-11-05