Incidental Mutation 'IGL01972:Fam114a2'
ID 181651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a2
Ensembl Gene ENSMUSG00000020523
Gene Name family with sequence similarity 114, member A2
Synonyms 9030624B09Rik, 1810073G14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL01972
Quality Score
Status
Chromosome 11
Chromosomal Location 57373819-57409443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57400220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 156 (T156I)
Ref Sequence ENSEMBL: ENSMUSP00000104478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020831] [ENSMUST00000108850]
AlphaFold Q8VE88
Predicted Effect probably damaging
Transcript: ENSMUST00000020831
AA Change: T149I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: T149I

DomainStartEndE-ValueType
Pfam:DUF719 68 236 5e-72 PFAM
low complexity region 263 275 N/A INTRINSIC
low complexity region 338 355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108850
AA Change: T156I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: T156I

DomainStartEndE-ValueType
Pfam:DUF719 77 243 4.5e-71 PFAM
low complexity region 270 282 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130596
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahr T G 12: 35,554,448 (GRCm39) D557A possibly damaging Het
Akap11 T C 14: 78,745,297 (GRCm39) Q1697R probably damaging Het
Alpi T A 1: 87,027,431 (GRCm39) T312S probably damaging Het
Cacna1b C A 2: 24,525,107 (GRCm39) probably null Het
Car5a C T 8: 122,653,821 (GRCm39) probably null Het
Cubn T C 2: 13,450,883 (GRCm39) T841A possibly damaging Het
Eml6 A T 11: 29,788,451 (GRCm39) F545I possibly damaging Het
Fbxl21 C T 13: 56,684,672 (GRCm39) R259* probably null Het
Fhip1b T C 7: 105,039,352 (GRCm39) N5S probably damaging Het
Gm5117 C T 8: 32,227,787 (GRCm39) noncoding transcript Het
Hc T C 2: 34,873,784 (GRCm39) Y1650C probably damaging Het
Med12l C A 3: 59,169,314 (GRCm39) T1568K probably damaging Het
Mtrex T C 13: 113,017,595 (GRCm39) K853E probably damaging Het
Or2ag2b A G 7: 106,417,739 (GRCm39) I150V probably benign Het
Or5g27 T C 2: 85,410,117 (GRCm39) F178S probably damaging Het
Or6n1 G T 1: 173,916,987 (GRCm39) C127F probably damaging Het
Orm3 A G 4: 63,277,563 (GRCm39) S184G probably benign Het
Padi1 A G 4: 140,546,170 (GRCm39) probably benign Het
Rnf133 T C 6: 23,648,988 (GRCm39) T357A probably benign Het
Tmem17 A G 11: 22,467,265 (GRCm39) S60G probably benign Het
Ubqlnl G T 7: 103,798,904 (GRCm39) Q198K probably benign Het
Vmn1r69 A T 7: 10,314,586 (GRCm39) Y48* probably null Het
Zfp658 G A 7: 43,222,134 (GRCm39) W136* probably null Het
Other mutations in Fam114a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fam114a2 APN 11 57,378,413 (GRCm39) missense probably damaging 1.00
IGL00943:Fam114a2 APN 11 57,405,099 (GRCm39) start codon destroyed probably null 1.00
IGL01809:Fam114a2 APN 11 57,404,461 (GRCm39) critical splice donor site probably null
IGL02541:Fam114a2 APN 11 57,390,627 (GRCm39) missense probably benign 0.41
R0010:Fam114a2 UTSW 11 57,404,982 (GRCm39) missense probably damaging 1.00
R1594:Fam114a2 UTSW 11 57,404,066 (GRCm39) critical splice donor site probably null
R1645:Fam114a2 UTSW 11 57,390,621 (GRCm39) missense probably benign 0.00
R2426:Fam114a2 UTSW 11 57,383,906 (GRCm39) missense probably benign 0.00
R3021:Fam114a2 UTSW 11 57,390,625 (GRCm39) missense probably benign 0.01
R3107:Fam114a2 UTSW 11 57,390,561 (GRCm39) missense probably benign 0.39
R6149:Fam114a2 UTSW 11 57,378,415 (GRCm39) missense probably benign 0.05
R6248:Fam114a2 UTSW 11 57,383,942 (GRCm39) missense possibly damaging 0.51
R6306:Fam114a2 UTSW 11 57,404,972 (GRCm39) missense probably damaging 1.00
R6933:Fam114a2 UTSW 11 57,374,897 (GRCm39) missense probably benign 0.04
R7485:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7486:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7487:Fam114a2 UTSW 11 57,404,515 (GRCm39) missense probably damaging 1.00
R7531:Fam114a2 UTSW 11 57,404,542 (GRCm39) missense probably benign
R7601:Fam114a2 UTSW 11 57,405,042 (GRCm39) missense possibly damaging 0.62
R7662:Fam114a2 UTSW 11 57,398,391 (GRCm39) missense probably damaging 1.00
R8033:Fam114a2 UTSW 11 57,398,333 (GRCm39) missense probably damaging 0.99
R9335:Fam114a2 UTSW 11 57,397,748 (GRCm39) missense possibly damaging 0.94
RF024:Fam114a2 UTSW 11 57,383,859 (GRCm39) missense probably benign 0.00
Z1177:Fam114a2 UTSW 11 57,404,084 (GRCm39) missense probably benign 0.05
Z1186:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1186:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1186:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1186:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1186:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1187:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1187:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1188:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1188:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1188:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1188:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1188:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1189:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1189:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1189:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1190:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1190:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1190:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1191:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1191:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1191:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,390,581 (GRCm39) missense probably benign 0.04
Z1192:Fam114a2 UTSW 11 57,380,940 (GRCm39) missense probably benign 0.03
Z1192:Fam114a2 UTSW 11 57,374,858 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,405,060 (GRCm39) missense probably benign
Z1192:Fam114a2 UTSW 11 57,390,623 (GRCm39) missense probably benign
Posted On 2014-05-07