Incidental Mutation 'R0786:Efr3a'
ID 76875
Institutional Source Beutler Lab
Gene Symbol Efr3a
Ensembl Gene ENSMUSG00000015002
Gene Name EFR3 homolog A
Synonyms C920006C10Rik, D030063F01Rik, A130089M23Rik
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 65658883-65745665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65725400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 532 (D532G)
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: D505G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: D505G

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: D505G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: D505G

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: D532G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000227340
AA Change: D83G
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGATCGCCATGACAACAGAGC -3'
(R):5'- TAGCACACGCACTTTCGACAGG -3'

Sequencing Primer
(F):5'- GTATCAGGTGACTCACCAGACTG -3'
(R):5'- GCACTTTCGACAGGTGAGG -3'
Posted On 2013-10-16