Incidental Mutation 'IGL02117:Fam114a1'
ID 280443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a1
Ensembl Gene ENSMUSG00000029185
Gene Name family with sequence similarity 114, member A1
Synonyms 1190001N04Rik, 9130005N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 5
Chromosomal Location 65127459-65199217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65187465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 408 (V408M)
Ref Sequence ENSEMBL: ENSMUSP00000031080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080]
AlphaFold Q9D281
Predicted Effect probably benign
Transcript: ENSMUST00000031080
AA Change: V408M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: V408M

DomainStartEndE-ValueType
Pfam:DUF719 125 300 5e-65 PFAM
low complexity region 355 365 N/A INTRINSIC
low complexity region 413 432 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Fam114a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Fam114a1 APN 5 65,137,347 (GRCm39) missense probably benign 0.31
IGL01013:Fam114a1 APN 5 65,188,738 (GRCm39) critical splice donor site probably null
IGL02032:Fam114a1 APN 5 65,172,714 (GRCm39) missense probably benign 0.11
IGL02388:Fam114a1 APN 5 65,166,323 (GRCm39) unclassified probably benign
IGL02563:Fam114a1 APN 5 65,163,491 (GRCm39) splice site probably null
IGL02803:Fam114a1 APN 5 65,163,135 (GRCm39) splice site probably benign
R1183:Fam114a1 UTSW 5 65,191,731 (GRCm39) missense probably damaging 1.00
R2073:Fam114a1 UTSW 5 65,153,247 (GRCm39) critical splice donor site probably null
R2086:Fam114a1 UTSW 5 65,137,402 (GRCm39) missense probably benign 0.39
R3834:Fam114a1 UTSW 5 65,163,416 (GRCm39) missense possibly damaging 0.65
R4519:Fam114a1 UTSW 5 65,163,225 (GRCm39) missense probably benign
R4749:Fam114a1 UTSW 5 65,166,409 (GRCm39) missense probably damaging 1.00
R4937:Fam114a1 UTSW 5 65,137,070 (GRCm39) missense probably damaging 0.97
R5038:Fam114a1 UTSW 5 65,166,388 (GRCm39) missense probably damaging 1.00
R5096:Fam114a1 UTSW 5 65,137,234 (GRCm39) missense probably benign
R5368:Fam114a1 UTSW 5 65,163,452 (GRCm39) missense possibly damaging 0.52
R5460:Fam114a1 UTSW 5 65,185,776 (GRCm39) missense probably damaging 0.99
R5734:Fam114a1 UTSW 5 65,166,389 (GRCm39) missense probably damaging 1.00
R6242:Fam114a1 UTSW 5 65,188,695 (GRCm39) missense probably damaging 0.98
R6950:Fam114a1 UTSW 5 65,137,322 (GRCm39) missense possibly damaging 0.88
R7460:Fam114a1 UTSW 5 65,196,050 (GRCm39) missense possibly damaging 0.51
R7570:Fam114a1 UTSW 5 65,187,402 (GRCm39) splice site probably null
R8913:Fam114a1 UTSW 5 65,185,821 (GRCm39) missense possibly damaging 0.77
R9095:Fam114a1 UTSW 5 65,188,733 (GRCm39) missense probably benign 0.08
R9171:Fam114a1 UTSW 5 65,191,713 (GRCm39) critical splice acceptor site probably null
R9203:Fam114a1 UTSW 5 65,137,300 (GRCm39) missense probably damaging 1.00
R9318:Fam114a1 UTSW 5 65,153,227 (GRCm39) missense possibly damaging 0.77
R9640:Fam114a1 UTSW 5 65,166,394 (GRCm39) missense probably damaging 0.99
R9656:Fam114a1 UTSW 5 65,163,246 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16