Incidental Mutation 'IGL02812:4930563D23Rik'
ID360618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930563D23Rik
Ensembl Gene ENSMUSG00000051728
Gene NameRIKEN cDNA 4930563D23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02812
Quality Score
Status
Chromosome16
Chromosomal Location92318765-92321441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92320728 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 224 (I224T)
Ref Sequence ENSEMBL: ENSMUSP00000049694 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000062638
AA Change: I224T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 80,006,047 V1005L possibly damaging Het
Abcc9 A G 6: 142,697,790 S11P possibly damaging Het
Acsl1 A T 8: 46,492,836 E2V possibly damaging Het
AI314180 T A 4: 58,864,343 probably benign Het
Aox3 G A 1: 58,165,896 V757I probably benign Het
Aqp4 T C 18: 15,397,575 probably null Het
Arhgef7 A G 8: 11,781,245 probably benign Het
Armc9 T A 1: 86,244,571 D2E probably damaging Het
Celsr2 G A 3: 108,414,113 P461L probably benign Het
Cep170 T C 1: 176,742,514 D1339G probably damaging Het
Clk1 T A 1: 58,414,476 N317I probably damaging Het
Comp G A 8: 70,376,687 G305S possibly damaging Het
Depdc5 G A 5: 32,893,368 probably benign Het
Dse T C 10: 34,183,716 E131G probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Epha2 A G 4: 141,318,919 probably benign Het
Fmnl1 A G 11: 103,196,766 probably benign Het
Gbp9 T C 5: 105,083,758 N321D probably damaging Het
Gm5884 A G 6: 128,645,775 noncoding transcript Het
Gp2 A T 7: 119,452,229 N254K probably benign Het
Hgh1 T A 15: 76,369,554 probably null Het
Inpp5f A G 7: 128,682,306 N543S probably damaging Het
Ints7 T C 1: 191,619,741 V854A probably damaging Het
Itgb1bp1 T G 12: 21,270,878 probably benign Het
Lrrtm4 A T 6: 80,021,964 N120Y probably damaging Het
Map3k5 T C 10: 20,025,036 S319P probably damaging Het
Mc4r A G 18: 66,859,247 L265S probably damaging Het
Morc1 T C 16: 48,558,506 probably benign Het
Mre11a T A 9: 14,790,670 probably null Het
Msh4 T C 3: 153,901,400 probably benign Het
Mterf4 A G 1: 93,304,733 L132P probably damaging Het
Myo15 A T 11: 60,477,179 E255V probably benign Het
Myot T C 18: 44,346,060 V288A probably damaging Het
Nipa2 T C 7: 55,943,018 Y53C probably damaging Het
Npas1 T A 7: 16,456,116 I502F probably damaging Het
Olfr1389 T A 11: 49,430,922 W149R probably damaging Het
Olfr536 C T 7: 140,503,620 V280M probably damaging Het
Osbp2 A G 11: 3,714,637 V565A probably benign Het
Otof A G 5: 30,374,082 S1666P probably benign Het
Per3 A C 4: 151,024,470 S476A probably damaging Het
Pja2 T C 17: 64,297,794 N465D probably damaging Het
Pla2g4c T C 7: 13,348,365 F512S probably damaging Het
Plcd4 T A 1: 74,557,808 L403Q probably damaging Het
Psg26 T C 7: 18,475,155 T443A probably benign Het
Snapc4 T A 2: 26,369,372 T589S probably benign Het
Spag8 G A 4: 43,651,755 R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 D268G probably benign Het
Tfap2d A G 1: 19,142,927 H325R possibly damaging Het
Vmn1r59 C T 7: 5,454,177 V195I probably damaging Het
Vmn1r67 G A 7: 10,447,018 E70K probably benign Het
Wdr18 T A 10: 79,961,064 N91K possibly damaging Het
Zbtb7b T C 3: 89,379,774 T463A probably damaging Het
Other mutations in 4930563D23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:4930563D23Rik APN 16 92321002 missense possibly damaging 0.47
IGL01327:4930563D23Rik APN 16 92320773 missense probably benign 0.10
IGL02981:4930563D23Rik APN 16 92320869 missense probably benign 0.05
R0458:4930563D23Rik UTSW 16 92321107 missense probably benign 0.00
R0826:4930563D23Rik UTSW 16 92321187 missense probably benign 0.05
R1456:4930563D23Rik UTSW 16 92320665 missense probably damaging 0.99
R1754:4930563D23Rik UTSW 16 92321031 missense probably damaging 0.98
R2568:4930563D23Rik UTSW 16 92321319 missense probably damaging 1.00
R5916:4930563D23Rik UTSW 16 92320671 missense probably damaging 1.00
R7148:4930563D23Rik UTSW 16 92320987 missense probably benign
R7195:4930563D23Rik UTSW 16 92321149 missense probably damaging 1.00
R7289:4930563D23Rik UTSW 16 92320822 missense probably damaging 1.00
R7638:4930563D23Rik UTSW 16 92320917 missense probably damaging 0.99
Posted On2015-12-18