Incidental Mutation 'IGL01366:Efr3a'
ID75951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efr3a
Ensembl Gene ENSMUSG00000015002
Gene NameEFR3 homolog A
SynonymsA130089M23Rik, D030063F01Rik, C920006C10Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.267) question?
Stock #IGL01366
Quality Score
Status
Chromosome15
Chromosomal Location65787034-65873816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65851150 bp
ZygosityHeterozygous
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]
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: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Efr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Efr3a APN 15 65855417 missense possibly damaging 0.66
IGL01070:Efr3a APN 15 65853078 missense probably benign
IGL01754:Efr3a APN 15 65854720 missense probably damaging 0.96
IGL02121:Efr3a APN 15 65871150 splice site probably benign
BB007:Efr3a UTSW 15 65861740 missense probably benign
BB017:Efr3a UTSW 15 65861740 missense probably benign
R0096:Efr3a UTSW 15 65855441 missense probably damaging 1.00
R0096:Efr3a UTSW 15 65855441 missense probably damaging 1.00
R0139:Efr3a UTSW 15 65845981 missense possibly damaging 0.58
R0449:Efr3a UTSW 15 65842704 missense probably damaging 1.00
R0786:Efr3a UTSW 15 65853551 missense possibly damaging 0.47
R0827:Efr3a UTSW 15 65853551 missense possibly damaging 0.70
R0843:Efr3a UTSW 15 65837423 splice site probably benign
R1433:Efr3a UTSW 15 65869057 intron probably benign
R1572:Efr3a UTSW 15 65854792 critical splice donor site probably null
R2290:Efr3a UTSW 15 65849839 missense probably benign 0.00
R2764:Efr3a UTSW 15 65849770 missense possibly damaging 0.94
R4170:Efr3a UTSW 15 65845982 missense probably damaging 0.98
R4368:Efr3a UTSW 15 65866780 missense possibly damaging 0.82
R4683:Efr3a UTSW 15 65819801 missense probably damaging 1.00
R4797:Efr3a UTSW 15 65857588 missense probably damaging 1.00
R5495:Efr3a UTSW 15 65815409 missense possibly damaging 0.73
R6262:Efr3a UTSW 15 65857474 missense possibly damaging 0.90
R6552:Efr3a UTSW 15 65857490 missense possibly damaging 0.52
R6825:Efr3a UTSW 15 65829830 missense probably benign 0.18
R6833:Efr3a UTSW 15 65842686 missense probably damaging 1.00
R6852:Efr3a UTSW 15 65829830 missense probably benign 0.18
R6853:Efr3a UTSW 15 65829830 missense probably benign 0.18
R6996:Efr3a UTSW 15 65848181 nonsense probably null
R7327:Efr3a UTSW 15 65819778 missense probably damaging 0.98
R7467:Efr3a UTSW 15 65857511 missense possibly damaging 0.65
R7549:Efr3a UTSW 15 65815413 critical splice donor site probably null
R7671:Efr3a UTSW 15 65837434 critical splice acceptor site probably null
R7810:Efr3a UTSW 15 65787173 start gained probably benign
R7830:Efr3a UTSW 15 65829830 missense probably benign 0.18
R7832:Efr3a UTSW 15 65829830 missense probably benign 0.18
R7900:Efr3a UTSW 15 65848135 splice site probably null
R7904:Efr3a UTSW 15 65824678 missense probably damaging 1.00
R7930:Efr3a UTSW 15 65861740 missense probably benign
R8115:Efr3a UTSW 15 65866795 missense probably damaging 1.00
R8244:Efr3a UTSW 15 65815368 missense probably damaging 1.00
Posted On2013-10-07