Incidental Mutation 'IGL01146:1810009J06Rik'
ID 51389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810009J06Rik
Ensembl Gene ENSMUSG00000094808
Gene Name RIKEN cDNA 1810009J06 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL01146
Quality Score
Status
Chromosome 6
Chromosomal Location 40941706-40945361 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40943217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 54 (I54T)
Ref Sequence ENSEMBL: ENSMUSP00000075935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076638]
AlphaFold Q9CPN7
Predicted Effect probably damaging
Transcript: ENSMUST00000076638
AA Change: I54T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075935
Gene: ENSMUSG00000094808
AA Change: I54T

DomainStartEndE-ValueType
Tryp_SPc 23 240 4.94e-97 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T C 2: 155,403,957 (GRCm39) V701A possibly damaging Het
Adam6a A T 12: 113,507,840 (GRCm39) Y71F probably damaging Het
Arhgef37 A T 18: 61,651,081 (GRCm39) I148N possibly damaging Het
Bhlhe40 T C 6: 108,641,901 (GRCm39) S282P possibly damaging Het
Bmp2 A T 2: 133,403,220 (GRCm39) Q257L probably benign Het
C2cd4d A G 3: 94,271,770 (GRCm39) probably benign Het
Calcr T A 6: 3,700,144 (GRCm39) Y316F possibly damaging Het
Ccdc186 T C 19: 56,797,749 (GRCm39) E274G probably damaging Het
Cdc34b G T 11: 94,633,420 (GRCm39) D207Y probably benign Het
Chst5 C T 8: 112,617,314 (GRCm39) C102Y probably damaging Het
Cnbd2 T A 2: 156,154,534 (GRCm39) probably benign Het
Dnaaf9 C T 2: 130,612,591 (GRCm39) probably null Het
Dnm1l T C 16: 16,132,189 (GRCm39) D549G probably benign Het
Gm4847 T A 1: 166,462,521 (GRCm39) D323V probably damaging Het
Gm9843 G A 16: 76,200,255 (GRCm39) noncoding transcript Het
Gopc A G 10: 52,234,963 (GRCm39) V120A probably benign Het
Kmt2c T G 5: 25,513,510 (GRCm39) M3095L probably damaging Het
Man1a T C 10: 53,783,615 (GRCm39) E629G possibly damaging Het
Pde4b T A 4: 102,112,460 (GRCm39) S12T possibly damaging Het
Phf2 A T 13: 48,973,083 (GRCm39) L391Q unknown Het
Phf8-ps A G 17: 33,284,357 (GRCm39) L815S possibly damaging Het
Plekha7 G A 7: 115,756,708 (GRCm39) probably benign Het
Pmpcb T A 5: 21,945,476 (GRCm39) probably benign Het
Poc1a T C 9: 106,182,503 (GRCm39) Y285H probably benign Het
Polr1e T C 4: 45,031,369 (GRCm39) L387S probably damaging Het
Prr9 A T 3: 92,030,504 (GRCm39) C45* probably null Het
Rnf157 T C 11: 116,240,912 (GRCm39) H393R probably benign Het
Rps6ka4 A G 19: 6,808,496 (GRCm39) F554L probably damaging Het
Sez6l A G 5: 112,576,275 (GRCm39) S861P probably damaging Het
Sh3tc2 G T 18: 62,122,582 (GRCm39) D448Y probably damaging Het
Smg6 T G 11: 74,821,254 (GRCm39) Y508* probably null Het
Sult6b2 C T 6: 142,750,034 (GRCm39) G28D probably benign Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Other mutations in 1810009J06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:1810009J06Rik APN 6 40,941,768 (GRCm39) splice site probably benign
IGL00952:1810009J06Rik APN 6 40,941,733 (GRCm39) missense probably benign 0.00
IGL02815:1810009J06Rik APN 6 40,941,729 (GRCm39) missense probably benign
R1543:1810009J06Rik UTSW 6 40,945,138 (GRCm39) missense probably damaging 1.00
R1708:1810009J06Rik UTSW 6 40,941,732 (GRCm39) missense probably benign
R1964:1810009J06Rik UTSW 6 40,945,141 (GRCm39) missense probably damaging 1.00
R5786:1810009J06Rik UTSW 6 40,945,122 (GRCm39) missense probably damaging 1.00
R6611:1810009J06Rik UTSW 6 40,943,713 (GRCm39) missense probably benign 0.09
R7057:1810009J06Rik UTSW 6 40,945,181 (GRCm39) missense probably benign 0.00
R9371:1810009J06Rik UTSW 6 40,943,663 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21