Incidental Mutation 'R0139:Efr3a'
ID 22211
Institutional Source Beutler Lab
Gene Symbol Efr3a
Ensembl Gene ENSMUSG00000015002
Gene Name EFR3 homolog A
Synonyms C920006C10Rik, D030063F01Rik, A130089M23Rik
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.410) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 65658883-65745665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65717830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 337 (V337F)
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: V310F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002
AA Change: V310F

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: V310F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134385
Gene: ENSMUSG00000015002
AA Change: V310F

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 8e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000211878
AA Change: V337F

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1974 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N 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
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
Predicted Primers PCR Primer
(F):5'- TGGCAGTCACATGTTGTAAATTCCAGT -3'
(R):5'- GCCCTGGGCTTAATACTTGAGGACATT -3'

Sequencing Primer
(F):5'- CACATGTTGTAAATTCCAGTCACTTG -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2013-04-16