Incidental Mutation 'IGL02176:Efs'
ID283125
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 #IGL02176
Quality Score
Status
Chromosome14
Chromosomal Location54916535-54926126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 54921042 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 53 (G53D)
Ref Sequence ENSEMBL: ENSMUSP00000022813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000227037] [ENSMUST00000227587]
Predicted Effect probably damaging
Transcript: ENSMUST00000022813
AA Change: G53D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: G53D

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: ENSMUST00000227037
Predicted Effect probably benign
Transcript: ENSMUST00000227587
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,970,916 R415L probably benign Het
Ankle1 C A 8: 71,406,259 H45Q probably damaging Het
Anks1b A T 10: 90,042,668 H113L probably damaging Het
Arhgap33 T A 7: 30,524,051 H851L possibly damaging Het
Atp12a C T 14: 56,387,179 S972L probably damaging Het
Atrip T C 9: 109,067,046 D301G probably benign Het
Bckdk A G 7: 127,906,373 T223A probably benign Het
C3 C A 17: 57,226,337 probably benign Het
C8g A G 2: 25,499,110 S154P probably damaging Het
Casz1 A G 4: 148,934,619 D459G probably damaging Het
Cdca7 A G 2: 72,484,644 T293A probably damaging Het
Cmya5 T A 13: 93,090,150 D2810V probably damaging Het
CN725425 G A 15: 91,245,821 V296I probably benign Het
Col17a1 A G 19: 47,651,219 M1077T probably benign Het
Ddhd1 A T 14: 45,616,600 H426Q probably damaging Het
Dpp6 C T 5: 27,723,577 T799M probably damaging Het
Fer1l4 A G 2: 156,048,451 V221A probably benign Het
Gabre G A X: 72,274,653 Q17* probably null Het
Gpld1 T C 13: 24,984,209 probably null Het
Gpr107 T A 2: 31,168,846 V116D probably benign Het
Huwe1 T C X: 151,903,968 S2283P possibly damaging Het
Ksr1 A G 11: 79,020,791 S722P probably benign Het
Lmbrd2 A G 15: 9,182,574 E532G probably damaging Het
Lrfn1 T C 7: 28,458,686 probably benign Het
Lrrc4c A G 2: 97,630,253 D408G probably damaging Het
Mbp A G 18: 82,554,545 E122G probably damaging Het
Myo9a T A 9: 59,870,553 D1197E probably benign Het
Ncor1 A T 11: 62,329,659 probably benign Het
Olfr1390 A G 11: 49,341,306 Y258C probably benign Het
Pdcd1lg2 A G 19: 29,437,332 E53G probably benign Het
Phex G T X: 157,268,493 A469E probably damaging Het
Pigo A G 4: 43,019,352 S957P probably benign Het
Ppargc1b C A 18: 61,310,874 R422I probably damaging Het
Ppargc1b T A 18: 61,310,875 R406* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Thnsl1 G T 2: 21,211,854 A140S possibly damaging Het
Tm9sf3 A G 19: 41,246,637 probably benign Het
Tma7 T A 9: 109,082,085 probably benign Het
Tmtc2 T G 10: 105,348,493 S514R probably benign Het
Unc79 G A 12: 102,998,747 probably null Het
Wdr89 A T 12: 75,633,123 I119N probably damaging Het
Wiz C A 17: 32,356,902 R843S probably damaging Het
Zfp275 T A X: 73,353,283 S12T probably damaging Het
Other mutations in Efs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02720:Efs APN 14 54919715 missense probably damaging 1.00
IGL02752:Efs APN 14 54917423 missense probably damaging 0.96
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