Incidental Mutation 'IGL00642:Efr3a'
ID 10448
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 # IGL00642
Quality Score
Status
Chromosome 15
Chromosomal Location 65658883-65745665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65727266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 605 (D605G)
Ref Sequence ENSEMBL: ENSMUSP00000148418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000173858] [ENSMUST00000211878]
AlphaFold Q8BG67
Predicted Effect possibly damaging
Transcript: ENSMUST00000015146
AA Change: D578G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: D578G

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 5e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173858
AA Change: D578G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: D578G

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: ENSMUST00000174002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174749
Predicted Effect possibly damaging
Transcript: ENSMUST00000211878
AA Change: D605G

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000227340
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,464,544 (GRCm39) R388G possibly damaging Het
Akap9 A G 5: 4,010,842 (GRCm39) Q533R probably damaging Het
Ano4 C T 10: 88,790,529 (GRCm39) E892K probably damaging Het
Arap2 G A 5: 62,890,401 (GRCm39) R347* probably null Het
Cdc7 A G 5: 107,116,726 (GRCm39) I34V probably benign Het
Copb2 T G 9: 98,461,086 (GRCm39) L383V probably damaging Het
Dhx57 A G 17: 80,582,405 (GRCm39) F400S probably benign Het
Kbtbd3 A T 9: 4,330,169 (GRCm39) Y181F probably benign Het
Smchd1 T C 17: 71,697,427 (GRCm39) E1171G probably damaging Het
Tars1 A G 15: 11,394,458 (GRCm39) Y60H probably damaging Het
Other mutations in Efr3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Efr3a APN 15 65,724,927 (GRCm39) missense probably benign
IGL01366:Efr3a APN 15 65,722,999 (GRCm39) missense probably benign 0.37
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 2012-12-06