Incidental Mutation 'IGL01963:2610042L04Rik'
ID 182449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610042L04Rik
Ensembl Gene ENSMUSG00000079388
Gene Name RIKEN cDNA 2610042L04 gene
Synonyms Tksn, takusan
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01963
Quality Score
Status
Chromosome 14
Chromosomal Location 18115085-18135010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4350856 bp (GRCm38)
Zygosity Heterozygous
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]
AlphaFold Q9D073
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: 109,862,589 (GRCm39) D392V probably damaging Het
Cep43 A T 17: 8,411,109 (GRCm39) D354V probably damaging Het
Clptm1l T A 13: 73,765,688 (GRCm39) probably benign Het
Creb3l1 G A 2: 91,823,678 (GRCm39) T178I probably benign Het
Ctsd A G 7: 141,930,336 (GRCm39) probably null Het
Dcstamp A T 15: 39,623,755 (GRCm39) I401F possibly damaging Het
Dnah5 A G 15: 28,370,682 (GRCm39) D2874G probably benign Het
Fcsk A G 8: 111,620,034 (GRCm39) F281S probably damaging Het
Fli1 T A 9: 32,335,503 (GRCm39) K310* probably null Het
Fndc4 C T 5: 31,452,556 (GRCm39) probably null Het
Gc G A 5: 89,569,981 (GRCm39) probably benign Het
Krtap26-1 A G 16: 88,444,556 (GRCm39) C22R probably damaging Het
Obscn C T 11: 58,911,367 (GRCm39) G6422S probably benign Het
Or10d5 C A 9: 39,861,536 (GRCm39) C177F probably damaging Het
Or10j2 T A 1: 173,097,919 (GRCm39) M59K probably damaging Het
Or5b21 T A 19: 12,839,746 (GRCm39) F202L probably benign Het
Pgr C T 9: 8,922,669 (GRCm39) P613L probably damaging Het
Pnpla8 C A 12: 44,342,816 (GRCm39) A524E possibly damaging Het
Psma2 A T 13: 14,793,948 (GRCm39) I105F probably damaging Het
Ptprg A G 14: 12,220,661 (GRCm38) R458G probably damaging Het
Rbm44 A G 1: 91,090,830 (GRCm39) I755V probably benign Het
Rev3l A G 10: 39,698,733 (GRCm39) K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 (GRCm39) probably benign Het
Sel1l3 A C 5: 53,357,680 (GRCm39) V104G probably damaging Het
Sirpb1c T C 3: 15,892,937 (GRCm39) N89S probably benign Het
Slc25a16 G A 10: 62,766,220 (GRCm39) probably null Het
Sulf1 C T 1: 12,888,731 (GRCm39) R339C probably damaging Het
Tedc2 C T 17: 24,436,926 (GRCm39) A270T probably benign Het
Trem3 T C 17: 48,554,880 (GRCm39) S2P possibly damaging Het
Vps37a G T 8: 40,993,771 (GRCm39) Q255H probably damaging Het
Zfp352 C T 4: 90,112,391 (GRCm39) A177V possibly damaging Het
Other mutations in 2610042L04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02439:2610042L04Rik APN 14 4,348,890 (GRCm38) missense probably benign 0.00
PIT4468001:2610042L04Rik UTSW 14 4,348,940 (GRCm38) missense probably damaging 1.00
R2140:2610042L04Rik UTSW 14 4,348,902 (GRCm38) missense probably damaging 0.98
R3055:2610042L04Rik UTSW 14 4,348,878 (GRCm38) missense probably damaging 0.99
R6238:2610042L04Rik UTSW 14 4,348,962 (GRCm38) missense probably damaging 0.98
R9328:2610042L04Rik UTSW 14 4,350,013 (GRCm38) nonsense probably null
R9733:2610042L04Rik UTSW 14 15,712,825 (GRCm39) splice site probably benign
Z1176:2610042L04Rik UTSW 14 4,348,869 (GRCm38) missense probably damaging 0.99
Posted On 2014-05-07