Incidental Mutation 'IGL01972:Fam114a2'
ID181651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a2
Ensembl Gene ENSMUSG00000020523
Gene Namefamily with sequence similarity 114, member A2
Synonyms1810073G14Rik, 9030624B09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01972
Quality Score
Status
Chromosome11
Chromosomal Location57482993-57518617 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 57509394 bp
ZygosityHeterozygous
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]
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: 35,504,449 D557A possibly damaging Het
Akap11 T C 14: 78,507,857 Q1697R probably damaging Het
Alpi T A 1: 87,099,709 T312S probably damaging Het
Cacna1b C A 2: 24,635,095 probably null Het
Car5a C T 8: 121,927,082 probably null Het
Cubn T C 2: 13,446,072 T841A possibly damaging Het
Eml6 A T 11: 29,838,451 F545I possibly damaging Het
Fam160a2 T C 7: 105,390,145 N5S probably damaging Het
Fbxl21 C T 13: 56,536,859 R259* probably null Het
Gm5117 C T 8: 31,737,759 noncoding transcript Het
Hc T C 2: 34,983,772 Y1650C probably damaging Het
Med12l C A 3: 59,261,893 T1568K probably damaging Het
Olfr429 G T 1: 174,089,421 C127F probably damaging Het
Olfr701 A G 7: 106,818,532 I150V probably benign Het
Olfr996 T C 2: 85,579,773 F178S probably damaging Het
Orm3 A G 4: 63,359,326 S184G probably benign Het
Padi1 A G 4: 140,818,859 probably benign Het
Rnf133 T C 6: 23,648,989 T357A probably benign Het
Skiv2l2 T C 13: 112,881,061 K853E probably damaging Het
Tmem17 A G 11: 22,517,265 S60G probably benign Het
Ubqlnl G T 7: 104,149,697 Q198K probably benign Het
Vmn1r69 A T 7: 10,580,659 Y48* probably null Het
Zfp658 G A 7: 43,572,710 W136* probably null Het
Other mutations in Fam114a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fam114a2 APN 11 57487587 missense probably damaging 1.00
IGL00943:Fam114a2 APN 11 57514273 start codon destroyed probably null 1.00
IGL01809:Fam114a2 APN 11 57513635 critical splice donor site probably null
IGL02541:Fam114a2 APN 11 57499801 missense probably benign 0.41
R0010:Fam114a2 UTSW 11 57514156 missense probably damaging 1.00
R1594:Fam114a2 UTSW 11 57513240 critical splice donor site probably null
R1645:Fam114a2 UTSW 11 57499795 missense probably benign 0.00
R2426:Fam114a2 UTSW 11 57493080 missense probably benign 0.00
R3021:Fam114a2 UTSW 11 57499799 missense probably benign 0.01
R3107:Fam114a2 UTSW 11 57499735 missense probably benign 0.39
R6149:Fam114a2 UTSW 11 57487589 missense probably benign 0.05
R6248:Fam114a2 UTSW 11 57493116 missense possibly damaging 0.51
R6306:Fam114a2 UTSW 11 57514146 missense probably damaging 1.00
R6933:Fam114a2 UTSW 11 57484071 missense probably benign 0.04
R7485:Fam114a2 UTSW 11 57513689 missense probably damaging 1.00
R7486:Fam114a2 UTSW 11 57513689 missense probably damaging 1.00
R7487:Fam114a2 UTSW 11 57513689 missense probably damaging 1.00
R7531:Fam114a2 UTSW 11 57513716 missense probably benign
R7601:Fam114a2 UTSW 11 57514216 missense possibly damaging 0.62
R7662:Fam114a2 UTSW 11 57507565 missense probably damaging 1.00
R8033:Fam114a2 UTSW 11 57507507 missense probably damaging 0.99
RF024:Fam114a2 UTSW 11 57493033 missense probably benign 0.00
Z1177:Fam114a2 UTSW 11 57513258 missense probably benign 0.05
Posted On2014-05-07