Incidental Mutation 'IGL02812:Fam243'
ID 360618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam243
Ensembl Gene ENSMUSG00000051728
Gene Name family with sequence similarity 243
Synonyms 4930563D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02812
Quality Score
Status
Chromosome 16
Chromosomal Location 92115653-92118329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92117616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 224 (I224T)
Ref Sequence ENSEMBL: ENSMUSP00000049694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062638]
AlphaFold Q8CDS7
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: 79,841,881 (GRCm39) V1005L possibly damaging Het
Abcc9 A G 6: 142,643,516 (GRCm39) S11P possibly damaging Het
Acsl1 A T 8: 46,945,873 (GRCm39) E2V possibly damaging Het
Aox3 G A 1: 58,205,055 (GRCm39) V757I probably benign Het
Aqp4 T C 18: 15,530,632 (GRCm39) probably null Het
Arhgef7 A G 8: 11,831,245 (GRCm39) probably benign Het
Armc9 T A 1: 86,172,293 (GRCm39) D2E probably damaging Het
Celsr2 G A 3: 108,321,429 (GRCm39) P461L probably benign Het
Cep170 T C 1: 176,570,080 (GRCm39) D1339G probably damaging Het
Clk1 T A 1: 58,453,635 (GRCm39) N317I probably damaging Het
Comp G A 8: 70,829,337 (GRCm39) G305S possibly damaging Het
Depdc5 G A 5: 33,050,712 (GRCm39) probably benign Het
Dse T C 10: 34,059,712 (GRCm39) E131G probably damaging Het
Ecpas T A 4: 58,864,343 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Epha2 A G 4: 141,046,230 (GRCm39) probably benign Het
Fmnl1 A G 11: 103,087,592 (GRCm39) probably benign Het
Gbp9 T C 5: 105,231,624 (GRCm39) N321D probably damaging Het
Gm5884 A G 6: 128,622,738 (GRCm39) noncoding transcript Het
Gp2 A T 7: 119,051,452 (GRCm39) N254K probably benign Het
Hgh1 T A 15: 76,253,754 (GRCm39) probably null Het
Inpp5f A G 7: 128,284,030 (GRCm39) N543S probably damaging Het
Ints7 T C 1: 191,351,853 (GRCm39) V854A probably damaging Het
Itgb1bp1 T G 12: 21,320,879 (GRCm39) probably benign Het
Lrrtm4 A T 6: 79,998,947 (GRCm39) N120Y probably damaging Het
Map3k5 T C 10: 19,900,782 (GRCm39) S319P probably damaging Het
Mc4r A G 18: 66,992,318 (GRCm39) L265S probably damaging Het
Morc1 T C 16: 48,378,869 (GRCm39) probably benign Het
Mre11a T A 9: 14,701,966 (GRCm39) probably null Het
Msh4 T C 3: 153,607,037 (GRCm39) probably benign Het
Mterf4 A G 1: 93,232,455 (GRCm39) L132P probably damaging Het
Myo15a A T 11: 60,368,005 (GRCm39) E255V probably benign Het
Myot T C 18: 44,479,127 (GRCm39) V288A probably damaging Het
Nipa2 T C 7: 55,592,766 (GRCm39) Y53C probably damaging Het
Npas1 T A 7: 16,190,041 (GRCm39) I502F probably damaging Het
Or12j5 C T 7: 140,083,533 (GRCm39) V280M probably damaging Het
Or2y1d T A 11: 49,321,749 (GRCm39) W149R probably damaging Het
Osbp2 A G 11: 3,664,637 (GRCm39) V565A probably benign Het
Otof A G 5: 30,531,426 (GRCm39) S1666P probably benign Het
Per3 A C 4: 151,108,927 (GRCm39) S476A probably damaging Het
Pja2 T C 17: 64,604,789 (GRCm39) N465D probably damaging Het
Pla2g4c T C 7: 13,082,290 (GRCm39) F512S probably damaging Het
Plcd4 T A 1: 74,596,967 (GRCm39) L403Q probably damaging Het
Psg26 T C 7: 18,209,080 (GRCm39) T443A probably benign Het
Snapc4 T A 2: 26,259,384 (GRCm39) T589S probably benign Het
Spag8 G A 4: 43,651,755 (GRCm39) R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 (GRCm39) D268G probably benign Het
Tfap2d A G 1: 19,213,151 (GRCm39) H325R possibly damaging Het
Vmn1r59 C T 7: 5,457,176 (GRCm39) V195I probably damaging Het
Vmn1r67 G A 7: 10,180,945 (GRCm39) E70K probably benign Het
Wdr18 T A 10: 79,796,898 (GRCm39) N91K possibly damaging Het
Zbtb7b T C 3: 89,287,081 (GRCm39) T463A probably damaging Het
Other mutations in Fam243
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Fam243 APN 16 92,117,890 (GRCm39) missense possibly damaging 0.47
IGL01327:Fam243 APN 16 92,117,661 (GRCm39) missense probably benign 0.10
IGL02981:Fam243 APN 16 92,117,757 (GRCm39) missense probably benign 0.05
R0458:Fam243 UTSW 16 92,117,995 (GRCm39) missense probably benign 0.00
R0826:Fam243 UTSW 16 92,118,075 (GRCm39) missense probably benign 0.05
R1456:Fam243 UTSW 16 92,117,553 (GRCm39) missense probably damaging 0.99
R1754:Fam243 UTSW 16 92,117,919 (GRCm39) missense probably damaging 0.98
R2568:Fam243 UTSW 16 92,118,207 (GRCm39) missense probably damaging 1.00
R5916:Fam243 UTSW 16 92,117,559 (GRCm39) missense probably damaging 1.00
R7148:Fam243 UTSW 16 92,117,875 (GRCm39) missense probably benign
R7195:Fam243 UTSW 16 92,118,037 (GRCm39) missense probably damaging 1.00
R7289:Fam243 UTSW 16 92,117,710 (GRCm39) missense probably damaging 1.00
R7638:Fam243 UTSW 16 92,117,805 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18