Incidental Mutation 'IGL03091:1110001J03Rik'
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ID418369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110001J03Rik
Ensembl Gene ENSMUSG00000019689
Gene NameRIKEN cDNA 1110001J03 gene
SynonymsFmc1
Accession Numbers
Stock #IGL03091
Quality Score
Status
Chromosome6
Chromosomal Location38533502-38539449 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38539235 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 72 (S72I)
Ref Sequence ENSEMBL: ENSMUSP00000019833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019833]
Predicted Effect probably damaging
Transcript: ENSMUST00000019833
AA Change: S72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,459,189 Y314N probably damaging Het
Aknad1 A G 3: 108,751,903 T78A possibly damaging Het
Arhgap33 G A 7: 30,528,293 P494S probably damaging Het
Bre T A 5: 31,785,678 Het
Ces2g T C 8: 104,964,754 V174A probably damaging Het
Chd1l G A 3: 97,563,547 R811C probably damaging Het
Crot A T 5: 8,966,897 H598Q probably benign Het
Dtx2 C T 5: 136,012,374 S211L probably damaging Het
Duox2 T G 2: 122,289,474 M852L probably benign Het
Fut1 T C 7: 45,619,527 C302R probably damaging Het
Gm6401 T C 14: 41,964,658 T184A possibly damaging Het
Gsdma2 C T 11: 98,652,002 T196I probably damaging Het
Lgi2 C A 5: 52,563,965 Het
Lipe A G 7: 25,380,755 L926P probably damaging Het
Lrp1 T A 10: 127,559,124 I2511F probably benign Het
Med10 T C 13: 69,815,697 Het
Nbea A G 3: 56,085,304 S294P probably damaging Het
Neb T A 2: 52,271,312 H2156L probably benign Het
Neo1 A T 9: 58,978,668 N335K probably damaging Het
Nox3 G T 17: 3,665,844 Q429K probably benign Het
Pkd1l1 T C 11: 8,855,564 R1671G probably damaging Het
Plec T C 15: 76,189,303 T606A probably benign Het
Pou5f1 G T 17: 35,510,042 R127L probably benign Het
Prkdc T A 16: 15,705,310 Het
Rassf8 T A 6: 145,815,810 N287K probably benign Het
Rdh16 T C 10: 127,813,633 Het
Ryr1 G A 7: 29,083,486 A1901V possibly damaging Het
Scnn1g A G 7: 121,746,683 Y343C probably damaging Het
Sema5a A G 15: 32,538,734 Het
Slc9b2 G A 3: 135,329,030 V310M probably damaging Het
Stox2 T A 8: 47,193,187 I413F probably benign Het
Terb1 A T 8: 104,469,154 H548Q probably benign Het
Tsks G A 7: 44,957,895 M547I possibly damaging Het
Ttc25 T A 11: 100,550,250 Y102* probably null Het
Tuba8 G A 6: 121,220,444 E22K probably damaging Het
Wee2 T C 6: 40,462,034 F364L probably benign Het
Zfp644 A G 5: 106,636,858 Y608H probably damaging Het
Other mutations in 1110001J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3887:1110001J03Rik UTSW 6 38539288 missense probably benign 0.10
R4988:1110001J03Rik UTSW 6 38534982 missense probably benign 0.26
Posted OnAug 02, 2016