Incidental Mutation 'IGL01366:Efr3a'
ID 75951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efr3a
Ensembl Gene ENSMUSG00000015002
Gene Name EFR3 homolog A
Synonyms C920006C10Rik, D030063F01Rik, A130089M23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # IGL01366
Quality Score
Status
Chromosome 15
Chromosomal Location 65658883-65745665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65722999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 459 (I459K)
Ref Sequence ENSEMBL: ENSMUSP00000148418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000173858] [ENSMUST00000211878]
AlphaFold Q8BG67
Predicted Effect probably benign
Transcript: ENSMUST00000015146
AA Change: I432K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: I432K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 5e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173858
AA Change: I432K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: I432K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 8e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174615
Predicted Effect probably benign
Transcript: ENSMUST00000211878
AA Change: I459K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000227340
AA Change: I10K
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,868,937 (GRCm39) probably benign Het
Adamts2 T C 11: 50,687,295 (GRCm39) Y1041H probably damaging Het
Adck5 A C 15: 76,479,816 (GRCm39) *568C probably null Het
AK157302 T A 13: 21,679,471 (GRCm39) probably benign Het
Bmpr2 G T 1: 59,852,836 (GRCm39) G56W probably damaging Het
Capn11 A C 17: 45,964,126 (GRCm39) I146S probably damaging Het
Ccdc162 A T 10: 41,456,302 (GRCm39) D1613E possibly damaging Het
Ccdc167 T C 17: 29,924,286 (GRCm39) E50G probably damaging Het
Col5a2 G T 1: 45,431,048 (GRCm39) P864Q possibly damaging Het
Col7a1 C T 9: 108,806,187 (GRCm39) probably benign Het
Crebbp T A 16: 3,944,370 (GRCm39) H556L probably damaging Het
Dcpp1 T A 17: 24,101,710 (GRCm39) I153N possibly damaging Het
Dgke C T 11: 88,946,212 (GRCm39) R196H probably benign Het
Espl1 T A 15: 102,228,271 (GRCm39) C1682S probably benign Het
Exosc3 C T 4: 45,317,747 (GRCm39) R185H probably damaging Het
Fgd6 T C 10: 93,879,338 (GRCm39) V64A possibly damaging Het
Fhip2b G A 14: 70,822,813 (GRCm39) R688C probably damaging Het
Gata3 A G 2: 9,882,276 (GRCm39) L42P probably damaging Het
Ggta1 C A 2: 35,292,462 (GRCm39) E282* probably null Het
Ghr T C 15: 3,349,669 (GRCm39) D503G probably damaging Het
Gls C T 1: 52,207,558 (GRCm39) G602D probably damaging Het
Gm2058 A G 7: 39,238,658 (GRCm39) noncoding transcript Het
Grb7 T C 11: 98,343,100 (GRCm39) probably benign Het
Ifngr1 A T 10: 19,485,348 (GRCm39) H449L probably damaging Het
Ighg2b T G 12: 113,270,656 (GRCm39) D158A possibly damaging Het
Nphs2 T C 1: 156,138,605 (GRCm39) V83A probably benign Het
Parp6 T A 9: 59,543,996 (GRCm39) M390K possibly damaging Het
Pask T C 1: 93,238,574 (GRCm39) K1304E probably benign Het
Scai A G 2: 38,996,973 (GRCm39) S274P probably benign Het
Sik2 A G 9: 50,818,763 (GRCm39) S404P probably damaging Het
Slc7a8 A T 14: 55,018,645 (GRCm39) I47N probably damaging Het
Tas2r113 A T 6: 132,870,760 (GRCm39) I263F probably benign Het
Tdrd1 T A 19: 56,843,734 (GRCm39) D737E probably benign Het
Trio T C 15: 27,732,954 (GRCm39) T2976A possibly damaging Het
Ttc28 T C 5: 111,233,037 (GRCm39) probably null Het
Vmn1r21 A G 6: 57,820,799 (GRCm39) I215T probably benign Het
Other mutations in Efr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Efr3a APN 15 65,727,266 (GRCm39) missense possibly damaging 0.66
IGL01070:Efr3a APN 15 65,724,927 (GRCm39) missense probably benign
IGL01754:Efr3a APN 15 65,726,569 (GRCm39) missense probably damaging 0.96
IGL02121:Efr3a APN 15 65,742,999 (GRCm39) splice site probably benign
BB007:Efr3a UTSW 15 65,733,589 (GRCm39) missense probably benign
BB017:Efr3a UTSW 15 65,733,589 (GRCm39) missense probably benign
R0096:Efr3a UTSW 15 65,727,290 (GRCm39) missense probably damaging 1.00
R0096:Efr3a UTSW 15 65,727,290 (GRCm39) missense probably damaging 1.00
R0139:Efr3a UTSW 15 65,717,830 (GRCm39) missense possibly damaging 0.58
R0449:Efr3a UTSW 15 65,714,553 (GRCm39) missense probably damaging 1.00
R0786:Efr3a UTSW 15 65,725,400 (GRCm39) missense possibly damaging 0.47
R0827:Efr3a UTSW 15 65,725,400 (GRCm39) missense possibly damaging 0.70
R0843:Efr3a UTSW 15 65,709,272 (GRCm39) splice site probably benign
R1433:Efr3a UTSW 15 65,740,906 (GRCm39) intron probably benign
R1572:Efr3a UTSW 15 65,726,641 (GRCm39) critical splice donor site probably null
R2290:Efr3a UTSW 15 65,721,688 (GRCm39) missense probably benign 0.00
R2764:Efr3a UTSW 15 65,721,619 (GRCm39) missense possibly damaging 0.94
R4170:Efr3a UTSW 15 65,717,831 (GRCm39) missense probably damaging 0.98
R4368:Efr3a UTSW 15 65,738,629 (GRCm39) missense possibly damaging 0.82
R4683:Efr3a UTSW 15 65,691,650 (GRCm39) missense probably damaging 1.00
R4797:Efr3a UTSW 15 65,729,437 (GRCm39) missense probably damaging 1.00
R5495:Efr3a UTSW 15 65,687,258 (GRCm39) missense possibly damaging 0.73
R6262:Efr3a UTSW 15 65,729,323 (GRCm39) missense possibly damaging 0.90
R6552:Efr3a UTSW 15 65,729,339 (GRCm39) missense possibly damaging 0.52
R6825:Efr3a UTSW 15 65,701,679 (GRCm39) missense probably benign 0.18
R6833:Efr3a UTSW 15 65,714,535 (GRCm39) missense probably damaging 1.00
R6852:Efr3a UTSW 15 65,701,679 (GRCm39) missense probably benign 0.18
R6853:Efr3a UTSW 15 65,701,679 (GRCm39) missense probably benign 0.18
R6996:Efr3a UTSW 15 65,720,030 (GRCm39) nonsense probably null
R7327:Efr3a UTSW 15 65,691,627 (GRCm39) missense probably damaging 0.98
R7467:Efr3a UTSW 15 65,729,360 (GRCm39) missense possibly damaging 0.65
R7549:Efr3a UTSW 15 65,687,262 (GRCm39) critical splice donor site probably null
R7671:Efr3a UTSW 15 65,709,283 (GRCm39) critical splice acceptor site probably null
R7810:Efr3a UTSW 15 65,659,022 (GRCm39) start gained probably benign
R7830:Efr3a UTSW 15 65,701,679 (GRCm39) missense probably benign 0.18
R7832:Efr3a UTSW 15 65,701,679 (GRCm39) missense probably benign 0.18
R7900:Efr3a UTSW 15 65,719,984 (GRCm39) splice site probably null
R7904:Efr3a UTSW 15 65,696,527 (GRCm39) missense probably damaging 1.00
R7930:Efr3a UTSW 15 65,733,589 (GRCm39) missense probably benign
R8115:Efr3a UTSW 15 65,738,644 (GRCm39) missense probably damaging 1.00
R8244:Efr3a UTSW 15 65,687,217 (GRCm39) missense probably damaging 1.00
R8388:Efr3a UTSW 15 65,738,671 (GRCm39) missense probably benign 0.42
R8859:Efr3a UTSW 15 65,726,614 (GRCm39) missense probably damaging 1.00
R9732:Efr3a UTSW 15 65,720,139 (GRCm39) missense probably benign 0.39
Posted On 2013-10-07