Incidental Mutation 'R0449:Efr3a'
ID 39552
Institutional Source Beutler Lab
Gene Symbol Efr3a
Ensembl Gene ENSMUSG00000015002
Gene Name EFR3 homolog A
Synonyms C920006C10Rik, D030063F01Rik, A130089M23Rik
MMRRC Submission 038649-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R0449 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 65658883-65745665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65714553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 280 (I280K)
Ref Sequence ENSEMBL: ENSMUSP00000134385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000173858] [ENSMUST00000211878]
AlphaFold Q8BG67
Predicted Effect probably damaging
Transcript: ENSMUST00000015146
AA Change: I280K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: I280K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 5e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173858
AA Change: I280K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: I280K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 8e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211878
AA Change: I307K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,989,885 (GRCm39) R813* probably null Het
Accsl T A 2: 93,696,419 (GRCm39) I60F probably benign Het
Adam29 C T 8: 56,325,716 (GRCm39) G246D probably benign Het
Ankrd13c A G 3: 157,697,351 (GRCm39) I319V probably benign Het
Bag6 T G 17: 35,360,442 (GRCm39) V327G probably damaging Het
Barhl1 C T 2: 28,805,304 (GRCm39) A130T probably benign Het
Bend4 T C 5: 67,555,583 (GRCm39) D541G probably damaging Het
Birc6 A C 17: 74,999,290 (GRCm39) T4673P probably damaging Het
Ccdc81 T C 7: 89,539,679 (GRCm39) R186G probably damaging Het
Cdyl2 A G 8: 117,309,931 (GRCm39) F342L probably damaging Het
Chd3 C A 11: 69,248,367 (GRCm39) V748L probably damaging Het
CN725425 G T 15: 91,123,147 (GRCm39) R72I possibly damaging Het
Col22a1 A G 15: 71,834,520 (GRCm39) probably null Het
Cops3 A G 11: 59,709,243 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,433,606 (GRCm39) Q940K possibly damaging Het
Dtnb C T 12: 3,641,971 (GRCm39) Q45* probably null Het
Eml6 A C 11: 29,843,213 (GRCm39) V167G probably benign Het
Fam83c T A 2: 155,672,215 (GRCm39) M407L probably benign Het
Fasn T C 11: 120,701,894 (GRCm39) T1862A probably benign Het
Fbxl6 A G 15: 76,420,155 (GRCm39) I486T probably damaging Het
Gpr182 A G 10: 127,586,565 (GRCm39) Y129H probably damaging Het
Gpr75 A G 11: 30,842,456 (GRCm39) S454G probably damaging Het
Hectd4 G A 5: 121,502,653 (GRCm39) probably null Het
Hsf4 A G 8: 106,002,222 (GRCm39) T411A probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il4 A T 11: 53,509,432 (GRCm39) M1K probably null Het
Ints11 G T 4: 155,972,405 (GRCm39) R463L probably benign Het
Ints4 G A 7: 97,178,430 (GRCm39) E677K probably damaging Het
Klk1b11 G A 7: 43,647,216 (GRCm39) C50Y probably damaging Het
Krt14 C A 11: 100,098,221 (GRCm39) G21C unknown Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lama3 A G 18: 12,633,569 (GRCm39) probably null Het
Lrrk2 T C 15: 91,634,478 (GRCm39) L1414P probably damaging Het
Matn2 T C 15: 34,428,687 (GRCm39) S684P probably damaging Het
Mga T A 2: 119,771,862 (GRCm39) V1574D probably damaging Het
Mia2 T C 12: 59,219,380 (GRCm39) probably null Het
Mrpl21 T A 19: 3,342,459 (GRCm39) probably benign Het
Msh5 T A 17: 35,260,458 (GRCm39) Q266L probably benign Het
Mybpc1 C A 10: 88,376,822 (GRCm39) C758F probably damaging Het
Myo15a G A 11: 60,400,422 (GRCm39) A2932T possibly damaging Het
Nbas T A 12: 13,569,109 (GRCm39) I2021K probably benign Het
Neurl4 T C 11: 69,796,393 (GRCm39) S424P probably damaging Het
Or10j5 T A 1: 172,784,965 (GRCm39) V201E probably damaging Het
Or2w3 A C 11: 58,556,789 (GRCm39) I135L probably benign Het
Or6c6 A G 10: 129,187,103 (GRCm39) M224V probably benign Het
Or7g17 T C 9: 18,767,945 (GRCm39) M8T probably benign Het
Or7g32 T A 9: 19,389,388 (GRCm39) I53F possibly damaging Het
Phlpp1 C T 1: 106,278,308 (GRCm39) R907W probably damaging Het
Pigg T C 5: 108,484,277 (GRCm39) V508A probably benign Het
Pkhd1l1 T G 15: 44,364,915 (GRCm39) Y685D probably damaging Het
Polr3a A T 14: 24,534,534 (GRCm39) I34N probably damaging Het
Pramel17 T C 4: 101,694,158 (GRCm39) S242G probably benign Het
Prex1 A G 2: 166,411,297 (GRCm39) V1434A probably benign Het
Ptprh T A 7: 4,601,005 (GRCm39) D124V probably damaging Het
Rad54b T A 4: 11,606,131 (GRCm39) I513N probably benign Het
Rbm12b1 A G 4: 12,145,507 (GRCm39) N493S probably benign Het
Rfx7 A T 9: 72,517,586 (GRCm39) probably null Het
Serpini1 A G 3: 75,520,648 (GRCm39) K82E probably benign Het
Slc27a6 T G 18: 58,742,237 (GRCm39) probably null Het
Slc35f2 G T 9: 53,724,201 (GRCm39) L358F probably damaging Het
Slc45a1 A C 4: 150,727,762 (GRCm39) I158M probably damaging Het
Slurp2 G A 15: 74,614,955 (GRCm39) P62L probably damaging Het
Sspo C T 6: 48,443,674 (GRCm39) H1949Y probably damaging Het
Tiam1 A T 16: 89,634,715 (GRCm39) V865E possibly damaging Het
Tlr4 A C 4: 66,757,857 (GRCm39) I217L probably damaging Het
Top1 C T 2: 160,554,628 (GRCm39) R460* probably null Het
Trpm3 T A 19: 22,965,418 (GRCm39) S1638T probably benign Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Vars1 T G 17: 35,231,703 (GRCm39) probably null Het
Xylt2 A G 11: 94,557,159 (GRCm39) Y111H probably benign Het
Zbed5 G A 5: 129,930,567 (GRCm39) G172D probably damaging Het
Zfp53 C T 17: 21,729,095 (GRCm39) T376I probably benign Het
Zfp937 G T 2: 150,081,466 (GRCm39) V499L probably benign Het
Zyx T A 6: 42,328,247 (GRCm39) L152Q probably 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
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
Predicted Primers PCR Primer
(F):5'- GGCAGTTAGAAATGTCTGCCGTAGT -3'
(R):5'- CCAATTCACCTGCATAACAGGGACT -3'

Sequencing Primer
(F):5'- gtccacctgtgtctgtctc -3'
(R):5'- caagaggcagaggcagg -3'
Posted On 2013-05-23