Incidental Mutation 'R9703:Efs'
ID 729681
Institutional Source Beutler Lab
Gene Symbol Efs
Ensembl Gene ENSMUSG00000022203
Gene Name embryonal Fyn-associated substrate
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R9703 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 55153992-55163583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55156871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 388 (V388E)
Ref Sequence ENSEMBL: ENSMUSP00000022813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000227037] [ENSMUST00000227587]
AlphaFold Q64355
Predicted Effect possibly damaging
Transcript: ENSMUST00000022813
AA Change: V388E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: V388E

SH3 8 67 5.15e-19 SMART
low complexity region 201 215 N/A INTRINSIC
low complexity region 255 273 N/A INTRINSIC
low complexity region 305 325 N/A INTRINSIC
low complexity region 335 351 N/A INTRINSIC
Pfam:DUF3513 370 555 9.2e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000227037
AA Change: V295E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000227587
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 41,248,971 (GRCm39) N360K probably damaging Het
Aoc1l2 A G 6: 48,909,629 (GRCm39) T625A probably benign Het
Apob T A 12: 8,030,507 (GRCm39) L82Q probably damaging Het
Arhgap30 T G 1: 171,235,339 (GRCm39) L571R probably damaging Het
Atg9a C T 1: 75,162,431 (GRCm39) C493Y probably damaging Het
Brip1 T C 11: 85,952,830 (GRCm39) T984A possibly damaging Het
Btbd9 A G 17: 30,749,200 (GRCm39) V38A possibly damaging Het
Crocc2 C A 1: 93,130,444 (GRCm39) D908E probably benign Het
Crybg3 C G 16: 59,375,939 (GRCm39) A58P probably damaging Het
Cts7 T C 13: 61,504,350 (GRCm39) N71S probably damaging Het
Ddx46 A G 13: 55,824,635 (GRCm39) Y962C probably damaging Het
Dock10 G A 1: 80,517,540 (GRCm39) R1373C probably damaging Het
Dock9 A T 14: 121,781,989 (GRCm39) *2043R probably null Het
Esyt1 C T 10: 128,354,796 (GRCm39) probably null Het
Extl3 G T 14: 65,292,103 (GRCm39) R907S probably damaging Het
Fcgbp G A 7: 27,806,400 (GRCm39) V2123M probably damaging Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Golm1 A T 13: 59,797,433 (GRCm39) D137E probably benign Het
Grxcr2 T C 18: 42,124,988 (GRCm39) D140G possibly damaging Het
H2ac19 G A 3: 96,147,557 (GRCm39) R4C probably benign Het
Hrh1 G A 6: 114,457,979 (GRCm39) C420Y probably benign Het
Ints13 A T 6: 146,459,063 (GRCm39) L316Q probably damaging Het
Iws1 T A 18: 32,212,738 (GRCm39) D55E probably damaging Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Klrc2 G C 6: 129,633,407 (GRCm39) S215* probably null Het
Muc5b A G 7: 141,425,535 (GRCm39) T4727A possibly damaging Het
Nsd3 T C 8: 26,131,228 (GRCm39) S198P probably benign Het
Or2n1b A T 17: 38,459,856 (GRCm39) I126F possibly damaging Het
Or6c214 A T 10: 129,591,286 (GRCm39) I11N possibly damaging Het
Ovch2 T A 7: 107,383,777 (GRCm39) I523F probably damaging Het
Pals1 T A 12: 78,843,850 (GRCm39) I18K probably benign Het
Pcdhb1 T A 18: 37,399,019 (GRCm39) D323E probably damaging Het
Pfkl T A 10: 77,826,142 (GRCm39) probably null Het
Pigc T A 1: 161,798,176 (GRCm39) F53I probably benign Het
Pramel29 T A 4: 143,939,510 (GRCm39) D9V probably damaging Het
Prph2 G A 17: 47,234,447 (GRCm39) A339T unknown Het
Prrc2a T C 17: 35,378,320 (GRCm39) K452E unknown Het
Rab36 T C 10: 74,886,474 (GRCm39) W151R possibly damaging Het
Sdk1 A G 5: 142,100,283 (GRCm39) T1438A possibly damaging Het
Slc25a17 A T 15: 81,224,193 (GRCm39) I55K probably damaging Het
Smg1 A T 7: 117,739,744 (GRCm39) I3401N possibly damaging Het
Smpd3 T A 8: 106,991,713 (GRCm39) H280L probably damaging Het
Srsf10 A G 4: 135,591,153 (GRCm39) H202R probably benign Het
Swap70 C T 7: 109,872,512 (GRCm39) R376C probably damaging Het
Syde1 G T 10: 78,421,557 (GRCm39) L665M probably damaging Het
Tha1 A G 11: 117,761,863 (GRCm39) V126A probably damaging Het
Tln2 T C 9: 67,293,938 (GRCm39) H230R probably damaging Het
Tnc G A 4: 63,889,412 (GRCm39) A1698V probably benign Het
Twist2 C A 1: 91,729,744 (GRCm39) S132R probably damaging Het
Ubr1 C T 2: 120,732,092 (GRCm39) C1170Y probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Other mutations in Efs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Efs APN 14 55,158,499 (GRCm39) missense probably damaging 1.00
IGL02720:Efs APN 14 55,157,172 (GRCm39) missense probably damaging 1.00
IGL02752:Efs APN 14 55,154,880 (GRCm39) missense probably damaging 0.96
R0129:Efs UTSW 14 55,154,680 (GRCm39) missense probably damaging 1.00
R1522:Efs UTSW 14 55,157,172 (GRCm39) missense probably damaging 1.00
R1927:Efs UTSW 14 55,154,620 (GRCm39) missense possibly damaging 0.89
R2327:Efs UTSW 14 55,154,961 (GRCm39) missense probably benign 0.01
R3431:Efs UTSW 14 55,157,681 (GRCm39) missense probably damaging 1.00
R3432:Efs UTSW 14 55,157,681 (GRCm39) missense probably damaging 1.00
R3615:Efs UTSW 14 55,157,552 (GRCm39) missense probably damaging 1.00
R3616:Efs UTSW 14 55,157,552 (GRCm39) missense probably damaging 1.00
R3756:Efs UTSW 14 55,157,879 (GRCm39) splice site probably benign
R3945:Efs UTSW 14 55,158,108 (GRCm39) splice site probably benign
R4448:Efs UTSW 14 55,157,649 (GRCm39) missense probably damaging 1.00
R4717:Efs UTSW 14 55,157,801 (GRCm39) missense probably damaging 0.99
R4819:Efs UTSW 14 55,154,610 (GRCm39) missense probably damaging 0.98
R5656:Efs UTSW 14 55,154,584 (GRCm39) missense probably damaging 1.00
R5946:Efs UTSW 14 55,156,951 (GRCm39) splice site probably null
R6054:Efs UTSW 14 55,158,614 (GRCm39) missense probably damaging 1.00
R7457:Efs UTSW 14 55,157,451 (GRCm39) missense probably benign
R7822:Efs UTSW 14 55,154,907 (GRCm39) missense probably benign 0.09
R7970:Efs UTSW 14 55,157,960 (GRCm39) critical splice donor site probably null
R8166:Efs UTSW 14 55,158,077 (GRCm39) missense probably damaging 1.00
R8347:Efs UTSW 14 55,157,241 (GRCm39) missense probably benign 0.28
R8896:Efs UTSW 14 55,157,756 (GRCm39) missense possibly damaging 0.80
R9438:Efs UTSW 14 55,156,868 (GRCm39) missense
X0028:Efs UTSW 14 55,158,078 (GRCm39) nonsense probably null
Z1176:Efs UTSW 14 55,157,793 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06