Incidental Mutation 'IGL01146:1810009J06Rik'
ID51389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810009J06Rik
Ensembl Gene ENSMUSG00000094808
Gene NameRIKEN cDNA 1810009J06 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL01146
Quality Score
Status
Chromosome6
Chromosomal Location40964754-40968435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40966283 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 54 (I54T)
Ref Sequence ENSEMBL: ENSMUSP00000075935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076638]
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
4921501E09Rik A G 17: 33,065,383 L815S possibly damaging Het
4930402H24Rik C T 2: 130,770,671 probably null Het
Acss2 T C 2: 155,562,037 V701A possibly damaging Het
Adam6a A T 12: 113,544,220 Y71F probably damaging Het
Arhgef37 A T 18: 61,518,010 I148N possibly damaging Het
Bhlhe40 T C 6: 108,664,940 S282P possibly damaging Het
Bmp2 A T 2: 133,561,300 Q257L probably benign Het
C2cd4d A G 3: 94,364,463 probably benign Het
Calcr T A 6: 3,700,144 Y316F possibly damaging Het
Ccdc186 T C 19: 56,809,317 E274G probably damaging Het
Cdc34b G T 11: 94,742,594 D207Y probably benign Het
Chst5 C T 8: 111,890,682 C102Y probably damaging Het
Cnbd2 T A 2: 156,312,614 probably benign Het
Dnm1l T C 16: 16,314,325 D549G probably benign Het
Gm4847 T A 1: 166,634,952 D323V probably damaging Het
Gm9843 G A 16: 76,403,367 noncoding transcript Het
Gopc A G 10: 52,358,867 V120A probably benign Het
Kmt2c T G 5: 25,308,512 M3095L probably damaging Het
Man1a T C 10: 53,907,519 E629G possibly damaging Het
Pde4b T A 4: 102,255,263 S12T possibly damaging Het
Phf2 A T 13: 48,819,607 L391Q unknown Het
Plekha7 G A 7: 116,157,473 probably benign Het
Pmpcb T A 5: 21,740,478 probably benign Het
Poc1a T C 9: 106,305,304 Y285H probably benign Het
Polr1e T C 4: 45,031,369 L387S probably damaging Het
Prr9 A T 3: 92,123,197 C45* probably null Het
Rnf157 T C 11: 116,350,086 H393R probably benign Het
Rps6ka4 A G 19: 6,831,128 F554L probably damaging Het
Sez6l A G 5: 112,428,409 S861P probably damaging Het
Sh3tc2 G T 18: 61,989,511 D448Y probably damaging Het
Smg6 T G 11: 74,930,428 Y508* probably null Het
Sult6b2 C T 6: 142,804,308 G28D probably benign Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Other mutations in 1810009J06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:1810009J06Rik APN 6 40964834 splice site probably benign
IGL00952:1810009J06Rik APN 6 40964799 missense probably benign 0.00
IGL02815:1810009J06Rik APN 6 40964795 missense probably benign
R1543:1810009J06Rik UTSW 6 40968204 missense probably damaging 1.00
R1708:1810009J06Rik UTSW 6 40964798 missense probably benign
R1964:1810009J06Rik UTSW 6 40968207 missense probably damaging 1.00
R5786:1810009J06Rik UTSW 6 40968188 missense probably damaging 1.00
R6611:1810009J06Rik UTSW 6 40966779 missense probably benign 0.09
R7057:1810009J06Rik UTSW 6 40968247 missense probably benign 0.00
Posted On2013-06-21