Incidental Mutation 'IGL02216:0610009O20Rik'
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ID284913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610009O20Rik
Ensembl Gene ENSMUSG00000024442
Gene NameRIKEN cDNA 0610009O20 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL02216
Quality Score
Status
Chromosome18
Chromosomal Location38250249-38262629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38252860 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 102 (I102F)
Ref Sequence ENSEMBL: ENSMUSP00000025314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025314]
Predicted Effect probably damaging
Transcript: ENSMUST00000025314
AA Change: I102F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: I102F

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
low complexity region 35 46 N/A INTRINSIC
low complexity region 127 140 N/A INTRINSIC
SEL1 244 277 1.53e2 SMART
SEL1 278 313 2.8e-9 SMART
SEL1 314 351 3.3e1 SMART
SEL1 352 385 1.31e0 SMART
SEL1 386 421 1.67e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181871
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,616,179 F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 noncoding transcript Het
Adamts12 A G 15: 11,241,485 N381S possibly damaging Het
Akp3 A T 1: 87,127,650 Q473L probably damaging Het
Ap5s1 T A 2: 131,212,967 V203E unknown Het
Atp10b T A 11: 43,259,789 L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 P233L probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 E438* probably null Het
Cd209a G T 8: 3,745,576 T165N probably damaging Het
Chid1 T C 7: 141,496,593 noncoding transcript Het
Cln3 A T 7: 126,575,342 noncoding transcript Het
Cped1 A T 6: 22,059,945 R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 W375L probably benign Het
Dync1h1 T C 12: 110,663,002 F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 E145V probably null Het
Gne T C 4: 44,044,761 K458E probably benign Het
Grid2 G T 6: 64,345,666 R550L probably damaging Het
Klhl1 T A 14: 96,123,222 T731S probably benign Het
Kng1 T A 16: 23,058,533 D30E probably damaging Het
Kyat1 A G 2: 30,187,252 V158A probably benign Het
Mcm8 G T 2: 132,839,529 V670F probably damaging Het
Mdn1 C T 4: 32,739,092 H3638Y probably benign Het
Neb T G 2: 52,226,490 T4158P probably benign Het
Neo1 T C 9: 58,917,053 I697M possibly damaging Het
Nfkb1 A T 3: 135,594,963 V614D probably damaging Het
Olfr860 G A 9: 19,846,565 S18L probably damaging Het
Otog T C 7: 46,301,468 S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 Y258C probably damaging Het
Pramef8 T A 4: 143,417,728 W215R probably null Het
Prl3a1 A G 13: 27,270,144 D35G probably benign Het
Rag1 A T 2: 101,643,381 V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 noncoding transcript Het
Rnf112 C T 11: 61,449,978 V520M probably damaging Het
Rps18 A G 17: 33,952,041 noncoding transcript Het
Rptn T C 3: 93,395,773 S138P possibly damaging Het
Sbpl A C 17: 23,953,716 N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 M305L probably benign Het
Slc22a17 T C 14: 54,907,976 T239A possibly damaging Het
Smc3 C T 19: 53,621,844 R221C probably damaging Het
Snai1 A G 2: 167,538,848 E87G probably benign Het
Snx22 C A 9: 66,069,188 A49S probably benign Het
Tas2r143 A T 6: 42,400,334 R33* probably null Het
Try4 A G 6: 41,305,031 I184V probably benign Het
Ttn T A 2: 76,754,552 K22101* probably null Het
Ttn A G 2: 76,791,725 V15491A probably benign Het
Vmn1r170 A G 7: 23,606,490 T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 V666E probably damaging Het
Vsx1 T C 2: 150,684,575 N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 T695A probably benign Het
Zfp846 A G 9: 20,588,609 E45G probably damaging Het
Other mutations in 0610009O20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02456:0610009O20Rik APN 18 38261124 missense probably damaging 1.00
R0134:0610009O20Rik UTSW 18 38261264 missense probably benign 0.37
R0225:0610009O20Rik UTSW 18 38261264 missense probably benign 0.37
R0511:0610009O20Rik UTSW 18 38254071 critical splice donor site probably null
R0560:0610009O20Rik UTSW 18 38254498 missense probably damaging 1.00
R1899:0610009O20Rik UTSW 18 38258342 missense probably benign 0.04
R3005:0610009O20Rik UTSW 18 38259959 missense possibly damaging 0.92
R3552:0610009O20Rik UTSW 18 38258365 splice site unknown
R4418:0610009O20Rik UTSW 18 38261287 critical splice donor site probably null
Posted OnApr 16, 2015