Incidental Mutation 'IGL03355:2610002M06Rik'
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ID419888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610002M06Rik
Ensembl Gene ENSMUSG00000031242
Gene NameRIKEN cDNA 2610002M06 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03355
Quality Score
Status
ChromosomeX
Chromosomal Location107782751-107816334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107788283 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 180 (V180F)
Ref Sequence ENSEMBL: ENSMUSP00000113588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101292] [ENSMUST00000120722]
Predicted Effect probably benign
Transcript: ENSMUST00000101292
SMART Domains Protein: ENSMUSP00000098850
Gene: ENSMUSG00000073007

DomainStartEndE-ValueType
DUF1693 9 328 6.24e-223 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120722
AA Change: V180F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113588
Gene: ENSMUSG00000031242
AA Change: V180F

DomainStartEndE-ValueType
Pfam:Snf7 7 176 5.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191183
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Gpr179 A T 11: 97,337,608 S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Kel C T 6: 41,698,887 probably null Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N109S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Nkap T C X: 37,139,670 Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pde4c T A 8: 70,746,595 L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Spred3 C T 7: 29,161,572 C394Y unknown Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly damaging Het
Other mutations in 2610002M06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:2610002M06Rik APN X 107816160 unclassified probably benign
IGL00595:2610002M06Rik APN X 107787844 missense probably damaging 0.97
Posted On2016-08-02