Incidental Mutation 'IGL02899:1300017J02Rik'
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ID363528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1300017J02Rik
Ensembl Gene ENSMUSG00000033688
Gene NameRIKEN cDNA 1300017J02 gene
SynonymsmICA
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02899
Quality Score
Status
Chromosome9
Chromosomal Location103250521-103305082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 103277574 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 173 (V173L)
Ref Sequence ENSEMBL: ENSMUSP00000115867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035163] [ENSMUST00000123530] [ENSMUST00000142540]
Predicted Effect probably damaging
Transcript: ENSMUST00000035163
AA Change: V173L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035163
Gene: ENSMUSG00000033688
AA Change: V173L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 352 5.48e-163 SMART
TR_FER 355 697 3.26e-179 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123530
AA Change: V173L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115867
Gene: ENSMUSG00000033688
AA Change: V173L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 25 351 3.67e-164 SMART
TR_FER 352 619 5.89e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150524
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in 1300017J02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:1300017J02Rik APN 9 103254776 missense possibly damaging 0.48
IGL02370:1300017J02Rik APN 9 103263074 missense probably benign 0.27
R0206:1300017J02Rik UTSW 9 103282662 missense probably damaging 1.00
R0206:1300017J02Rik UTSW 9 103282662 missense probably damaging 1.00
R0831:1300017J02Rik UTSW 9 103269779 missense possibly damaging 0.50
R0849:1300017J02Rik UTSW 9 103263057 missense possibly damaging 0.94
R1225:1300017J02Rik UTSW 9 103254839 splice site probably benign
R2061:1300017J02Rik UTSW 9 103268314 missense probably benign 0.01
R2176:1300017J02Rik UTSW 9 103259367 splice site probably benign
R4915:1300017J02Rik UTSW 9 103251855 nonsense probably null
R4917:1300017J02Rik UTSW 9 103251855 nonsense probably null
R5020:1300017J02Rik UTSW 9 103282502 missense probably benign 0.02
R5033:1300017J02Rik UTSW 9 103279414 missense probably benign 0.36
R5087:1300017J02Rik UTSW 9 103266221 missense probably damaging 0.98
R5174:1300017J02Rik UTSW 9 103282556 unclassified probably null
R6283:1300017J02Rik UTSW 9 103282635 nonsense probably null
Posted On2015-12-18