Incidental Mutation 'IGL02752:Efs'
ID304242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efs
Ensembl Gene ENSMUSG00000022203
Gene Nameembryonal Fyn-associated substrate
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL02752
Quality Score
Status
Chromosome14
Chromosomal Location54916535-54926126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54917423 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 453 (V453A)
Ref Sequence ENSEMBL: ENSMUSP00000022813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000050772] [ENSMUST00000227037] [ENSMUST00000227587] [ENSMUST00000227880] [ENSMUST00000228119] [ENSMUST00000228495] [ENSMUST00000228588] [ENSMUST00000231305]
Predicted Effect probably damaging
Transcript: ENSMUST00000022813
AA Change: V453A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: V453A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000050772
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 370 1.8e-17 PFAM
Pfam:MFS_1 211 394 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226718
Predicted Effect possibly damaging
Transcript: ENSMUST00000227037
AA Change: V360A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000227587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227600
Predicted Effect probably benign
Transcript: ENSMUST00000227880
Predicted Effect probably benign
Transcript: ENSMUST00000228119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Predicted Effect probably benign
Transcript: ENSMUST00000228495
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,955,841 E145* probably null Het
Abca9 A G 11: 110,127,368 F1142S probably damaging Het
Bod1l T C 5: 41,816,463 T2503A possibly damaging Het
Bpi A G 2: 158,262,424 D149G probably damaging Het
Cntnap5a A G 1: 116,580,531 T1258A probably benign Het
Col4a3 A G 1: 82,660,225 D256G unknown Het
Cul5 T C 9: 53,634,978 T338A probably damaging Het
Fbxw19 T A 9: 109,494,641 N89Y probably benign Het
Fbxw8 A G 5: 118,142,750 F114S probably damaging Het
Flnb A G 14: 7,917,338 I1606V probably benign Het
Gpr158 A G 2: 21,826,827 T913A possibly damaging Het
Gtf2f1 A T 17: 57,009,682 probably benign Het
Gtf2ird1 T A 5: 134,358,824 *1059L probably null Het
Hmgb4 T C 4: 128,260,341 K145E probably damaging Het
Igf2bp2 T A 16: 22,080,110 M250L probably benign Het
Igkv14-111 A G 6: 68,256,577 K21E probably benign Het
Il6st C T 13: 112,480,195 T92I probably damaging Het
Jak3 G T 8: 71,682,951 V581L possibly damaging Het
Kank2 C T 9: 21,795,033 V230M probably damaging Het
Kif1a G A 1: 93,039,847 A1123V possibly damaging Het
Kpna4 T A 3: 69,095,530 R125* probably null Het
Mybpc3 A T 2: 91,132,637 probably null Het
Ntn4 T C 10: 93,710,559 V358A possibly damaging Het
Pacsin1 A T 17: 27,702,698 probably null Het
Pcsk2 A G 2: 143,773,945 N221S probably benign Het
Pik3cg A G 12: 32,204,263 L575P probably damaging Het
Pkhd1 A T 1: 20,553,591 V760E possibly damaging Het
Plxnc1 T C 10: 94,794,680 probably null Het
Ppfia1 T C 7: 144,519,604 T217A probably benign Het
Rictor A G 15: 6,787,371 T1375A probably benign Het
Scn1a A G 2: 66,331,412 I264T probably damaging Het
Sez6l2 T C 7: 126,953,733 S164P probably damaging Het
Slc31a1 C T 4: 62,385,632 probably benign Het
Slc45a1 T C 4: 150,638,021 N469D probably benign Het
Slco1a5 T C 6: 142,262,712 T76A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stfa3 G A 16: 36,450,637 T95I probably damaging Het
Stk11ip A C 1: 75,524,681 probably null Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Traf1 A G 2: 34,958,008 S25P probably benign Het
Ttn G T 2: 76,791,781 probably benign Het
Wdfy4 A T 14: 33,076,326 I2041N probably damaging Het
Zfp512b A T 2: 181,588,071 D556E possibly damaging Het
Zfpm2 T A 15: 41,102,019 D633E probably benign Het
Other mutations in Efs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Efs APN 14 54921042 missense probably damaging 1.00
IGL02720:Efs APN 14 54919715 missense probably damaging 1.00
R0129:Efs UTSW 14 54917223 missense probably damaging 1.00
R1522:Efs UTSW 14 54919715 missense probably damaging 1.00
R1927:Efs UTSW 14 54917163 missense possibly damaging 0.89
R2327:Efs UTSW 14 54917504 missense probably benign 0.01
R3431:Efs UTSW 14 54920224 missense probably damaging 1.00
R3432:Efs UTSW 14 54920224 missense probably damaging 1.00
R3615:Efs UTSW 14 54920095 missense probably damaging 1.00
R3616:Efs UTSW 14 54920095 missense probably damaging 1.00
R3756:Efs UTSW 14 54920422 splice site probably benign
R3945:Efs UTSW 14 54920651 splice site probably benign
R4448:Efs UTSW 14 54920192 missense probably damaging 1.00
R4717:Efs UTSW 14 54920344 missense probably damaging 0.99
R4819:Efs UTSW 14 54917153 missense probably damaging 0.98
R5656:Efs UTSW 14 54917127 missense probably damaging 1.00
R5946:Efs UTSW 14 54919494 splice site probably null
R6054:Efs UTSW 14 54921157 missense probably damaging 1.00
R7457:Efs UTSW 14 54919994 missense probably benign
R7822:Efs UTSW 14 54917450 missense probably benign 0.09
R7970:Efs UTSW 14 54920503 critical splice donor site probably null
R8166:Efs UTSW 14 54920620 missense probably damaging 1.00
R8347:Efs UTSW 14 54919784 missense probably benign 0.28
X0028:Efs UTSW 14 54920621 nonsense probably null
Z1176:Efs UTSW 14 54920336 missense probably benign
Posted On2015-04-16