Incidental Mutation 'IGL01963:2610042L04Rik'
ID182449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610042L04Rik
Ensembl Gene ENSMUSG00000079388
Gene NameRIKEN cDNA 2610042L04 gene
Synonymstakusan, Tksn
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL01963
Quality Score
Status
Chromosome14
Chromosomal Location4334763-4354688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4350856 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 130 (G130D)
Ref Sequence ENSEMBL: ENSMUSP00000132127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112778] [ENSMUST00000165466]
Predicted Effect probably damaging
Transcript: ENSMUST00000112778
AA Change: G130D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108398
Gene: ENSMUSG00000079388
AA Change: G130D

DomainStartEndE-ValueType
Pfam:Takusan 1 73 3.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165466
AA Change: G130D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132127
Gene: ENSMUSG00000079388
AA Change: G130D

DomainStartEndE-ValueType
Pfam:Takusan 1 74 2.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Slc25a16 G A 10: 62,930,441 probably null Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in 2610042L04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02439:2610042L04Rik APN 14 4348890 missense probably benign 0.00
R2140:2610042L04Rik UTSW 14 4348902 missense probably damaging 0.98
R3055:2610042L04Rik UTSW 14 4348878 missense probably damaging 0.99
R6238:2610042L04Rik UTSW 14 4348962 missense probably damaging 0.98
Posted On2014-05-07