Incidental Mutation 'IGL01327:Fam243'
ID 74324
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 # IGL01327
Quality Score
Status
Chromosome 16
Chromosomal Location 92115653-92118329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92117661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 209 (Y209C)
Ref Sequence ENSEMBL: ENSMUSP00000049694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062638]
AlphaFold Q8CDS7
Predicted Effect probably benign
Transcript: ENSMUST00000062638
AA Change: Y209C

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,521 (GRCm39) V497E probably damaging Het
Adcy7 T G 8: 89,045,418 (GRCm39) probably benign Het
Aldh1a2 T A 9: 71,193,248 (GRCm39) F486I possibly damaging Het
Alox12 T A 11: 70,145,375 (GRCm39) H66L probably benign Het
Apoh T G 11: 108,288,187 (GRCm39) Y102D probably damaging Het
Arl9 T C 5: 77,154,401 (GRCm39) V43A possibly damaging Het
Atf6 A G 1: 170,616,175 (GRCm39) probably null Het
Atp4a T A 7: 30,412,675 (GRCm39) I127N possibly damaging Het
AY358078 T A 14: 52,043,166 (GRCm39) probably benign Het
Baat T G 4: 49,490,338 (GRCm39) K249Q probably damaging Het
Brat1 C T 5: 140,703,963 (GRCm39) Q739* probably null Het
C8g A G 2: 25,389,089 (GRCm39) F165L probably damaging Het
Cel T G 2: 28,447,967 (GRCm39) D353A possibly damaging Het
Col6a1 G T 10: 76,546,813 (GRCm39) T803K unknown Het
Cpxm1 A G 2: 130,238,277 (GRCm39) L95P probably benign Het
Ctsr A G 13: 61,310,489 (GRCm39) probably benign Het
Cyth1 A G 11: 118,084,439 (GRCm39) probably null Het
Dync1h1 A T 12: 110,583,126 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,262 (GRCm39) C407Y probably damaging Het
Gm3696 A T 14: 18,435,903 (GRCm39) W38R probably benign Het
Gm9611 T C 14: 42,116,622 (GRCm39) T39A possibly damaging Het
Gnpat T A 8: 125,605,372 (GRCm39) L287H probably damaging Het
Golm1 G T 13: 59,792,958 (GRCm39) N182K possibly damaging Het
Hdac6 T C X: 7,798,013 (GRCm39) M899V probably benign Het
Hsf3 T A X: 95,358,578 (GRCm39) M272L probably benign Het
Kif19a C T 11: 114,672,625 (GRCm39) probably benign Het
Lcn2 T G 2: 32,276,030 (GRCm39) Y100S possibly damaging Het
Lrrc8d T A 5: 105,960,131 (GRCm39) S180R probably damaging Het
Ly6h A G 15: 75,436,948 (GRCm39) probably benign Het
Macf1 T C 4: 123,403,705 (GRCm39) N705D probably benign Het
Mst1r C T 9: 107,785,043 (GRCm39) P234S probably benign Het
Msto1 T A 3: 88,817,939 (GRCm39) probably null Het
Myo5a T A 9: 75,094,820 (GRCm39) probably benign Het
Nipa1 T C 7: 55,629,409 (GRCm39) I235V probably benign Het
Nlgn3 T C X: 100,362,228 (GRCm39) V399A probably benign Het
Or1d2 T A 11: 74,255,738 (GRCm39) M81K possibly damaging Het
Or2b28 A G 13: 21,531,377 (GRCm39) N93S probably benign Het
Pih1d1 T C 7: 44,809,399 (GRCm39) S289P probably benign Het
Ppl T C 16: 4,905,508 (GRCm39) N1596D probably benign Het
Psmb6 T A 11: 70,417,412 (GRCm39) S114R possibly damaging Het
Pum1 C A 4: 130,457,854 (GRCm39) Q289K probably damaging Het
Shkbp1 T C 7: 27,054,676 (GRCm39) I75V probably benign Het
Slc24a3 T A 2: 145,444,478 (GRCm39) I284N probably benign Het
Slc44a3 C T 3: 121,320,842 (GRCm39) G53D probably damaging Het
Slc9a4 A C 1: 40,668,565 (GRCm39) D736A probably benign Het
Stra6 A G 9: 58,059,854 (GRCm39) D605G probably benign Het
Tas2r126 T A 6: 42,411,684 (GRCm39) H72Q probably benign Het
Tbrg1 C T 9: 37,564,408 (GRCm39) R166Q probably benign Het
Thumpd1 C T 7: 119,319,925 (GRCm39) G14R probably benign Het
Ticrr C T 7: 79,344,209 (GRCm39) T1358I probably benign Het
Tmtc2 A T 10: 105,184,340 (GRCm39) N518K probably benign Het
Trpm4 C A 7: 44,964,497 (GRCm39) W533C probably damaging Het
Tsen54 T C 11: 115,712,538 (GRCm39) Y119H possibly damaging Het
Tulp3 G A 6: 128,304,597 (GRCm39) T219M probably damaging Het
Usp19 T C 9: 108,376,160 (GRCm39) L1000S possibly damaging Het
Vps16 A T 2: 130,279,616 (GRCm39) Y43F probably benign Het
Vsig1 T A X: 139,838,429 (GRCm39) V283E possibly damaging Het
Other mutations in Fam243
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Fam243 APN 16 92,117,890 (GRCm39) missense possibly damaging 0.47
IGL02812:Fam243 APN 16 92,117,616 (GRCm39) missense probably damaging 0.98
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 2013-10-07