Incidental Mutation 'IGL03339:6820408C15Rik'
ID 417141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 6820408C15Rik
Ensembl Gene ENSMUSG00000032680
Gene Name RIKEN cDNA 6820408C15 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03339
Quality Score
Status
Chromosome 2
Chromosomal Location 152257507-152286250 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152284376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 323 (E323G)
Ref Sequence ENSEMBL: ENSMUSP00000037024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039961] [ENSMUST00000128737] [ENSMUST00000153713]
AlphaFold Q8BJX2
Predicted Effect probably damaging
Transcript: ENSMUST00000039961
AA Change: E323G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: E323G

DomainStartEndE-ValueType
Pfam:DUF4618 96 353 4.1e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128737
SMART Domains Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
Pfam:DUF4618 97 158 1.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153713
SMART Domains Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Meta Mutation Damage Score 0.4086 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in 6820408C15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:6820408C15Rik APN 2 152,284,307 (GRCm39) missense possibly damaging 0.89
IGL01986:6820408C15Rik APN 2 152,282,956 (GRCm39) missense possibly damaging 0.84
IGL02153:6820408C15Rik APN 2 152,283,161 (GRCm39) missense probably benign 0.06
IGL02178:6820408C15Rik APN 2 152,269,921 (GRCm39) splice site probably benign
R0468:6820408C15Rik UTSW 2 152,283,186 (GRCm39) missense probably benign 0.01
R1624:6820408C15Rik UTSW 2 152,276,031 (GRCm39) missense probably damaging 0.98
R1642:6820408C15Rik UTSW 2 152,282,774 (GRCm39) missense probably damaging 1.00
R2420:6820408C15Rik UTSW 2 152,270,921 (GRCm39) missense probably damaging 1.00
R3109:6820408C15Rik UTSW 2 152,284,376 (GRCm39) missense probably damaging 1.00
R3153:6820408C15Rik UTSW 2 152,282,744 (GRCm39) missense probably damaging 1.00
R3154:6820408C15Rik UTSW 2 152,282,744 (GRCm39) missense probably damaging 1.00
R3875:6820408C15Rik UTSW 2 152,276,000 (GRCm39) missense probably benign
R4237:6820408C15Rik UTSW 2 152,270,873 (GRCm39) missense possibly damaging 0.46
R4746:6820408C15Rik UTSW 2 152,282,685 (GRCm39) missense probably benign 0.13
R4957:6820408C15Rik UTSW 2 152,286,013 (GRCm39) missense probably damaging 1.00
R4959:6820408C15Rik UTSW 2 152,282,808 (GRCm39) missense possibly damaging 0.90
R4973:6820408C15Rik UTSW 2 152,282,808 (GRCm39) missense possibly damaging 0.90
R5261:6820408C15Rik UTSW 2 152,282,777 (GRCm39) missense probably damaging 1.00
R5399:6820408C15Rik UTSW 2 152,282,788 (GRCm39) missense probably damaging 1.00
R5971:6820408C15Rik UTSW 2 152,282,790 (GRCm39) missense probably damaging 1.00
R6138:6820408C15Rik UTSW 2 152,282,790 (GRCm39) missense probably damaging 1.00
R6223:6820408C15Rik UTSW 2 152,269,873 (GRCm39) missense probably benign 0.00
R6379:6820408C15Rik UTSW 2 152,269,912 (GRCm39) missense probably benign 0.01
R6642:6820408C15Rik UTSW 2 152,282,790 (GRCm39) missense probably damaging 1.00
R6815:6820408C15Rik UTSW 2 152,282,975 (GRCm39) missense probably benign 0.29
R8083:6820408C15Rik UTSW 2 152,282,987 (GRCm39) missense possibly damaging 0.94
R8367:6820408C15Rik UTSW 2 152,284,417 (GRCm39) splice site probably null
R8534:6820408C15Rik UTSW 2 152,283,182 (GRCm39) missense probably damaging 0.98
R9567:6820408C15Rik UTSW 2 152,270,867 (GRCm39) missense probably damaging 1.00
U15987:6820408C15Rik UTSW 2 152,282,790 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02