Incidental Mutation 'IGL02176:Efs'
ID 283125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efs
Ensembl Gene ENSMUSG00000022203
Gene Name embryonal Fyn-associated substrate
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL02176
Quality Score
Status
Chromosome 14
Chromosomal Location 55153992-55163583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55158499 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q64355
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: 20,846,815 (GRCm39) R415L probably benign Het
Ankle1 C A 8: 71,858,903 (GRCm39) H45Q probably damaging Het
Anks1b A T 10: 89,878,530 (GRCm39) H113L probably damaging Het
Arhgap33 T A 7: 30,223,476 (GRCm39) H851L possibly damaging Het
Atp12a C T 14: 56,624,636 (GRCm39) S972L probably damaging Het
Atrip T C 9: 108,896,114 (GRCm39) D301G probably benign Het
Bckdk A G 7: 127,505,545 (GRCm39) T223A probably benign Het
C3 C A 17: 57,533,337 (GRCm39) probably benign Het
C8g A G 2: 25,389,122 (GRCm39) S154P probably damaging Het
Casz1 A G 4: 149,019,076 (GRCm39) D459G probably damaging Het
Cdca7 A G 2: 72,314,988 (GRCm39) T293A probably damaging Het
Cmya5 T A 13: 93,226,658 (GRCm39) D2810V probably damaging Het
CN725425 G A 15: 91,130,024 (GRCm39) V296I probably benign Het
Col17a1 A G 19: 47,639,658 (GRCm39) M1077T probably benign Het
Ddhd1 A T 14: 45,854,057 (GRCm39) H426Q probably damaging Het
Dpp6 C T 5: 27,928,575 (GRCm39) T799M probably damaging Het
Fer1l4 A G 2: 155,890,371 (GRCm39) V221A probably benign Het
Gabre G A X: 71,318,259 (GRCm39) Q17* probably null Het
Gpld1 T C 13: 25,168,192 (GRCm39) probably null Het
Gpr107 T A 2: 31,058,858 (GRCm39) V116D probably benign Het
Huwe1 T C X: 150,686,964 (GRCm39) S2283P possibly damaging Het
Ksr1 A G 11: 78,911,617 (GRCm39) S722P probably benign Het
Lmbrd2 A G 15: 9,182,661 (GRCm39) E532G probably damaging Het
Lrfn1 T C 7: 28,158,111 (GRCm39) probably benign Het
Lrrc4c A G 2: 97,460,598 (GRCm39) D408G probably damaging Het
Mbp A G 18: 82,572,670 (GRCm39) E122G probably damaging Het
Myo9a T A 9: 59,777,836 (GRCm39) D1197E probably benign Het
Ncor1 A T 11: 62,220,485 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,133 (GRCm39) Y258C probably benign Het
Pdcd1lg2 A G 19: 29,414,732 (GRCm39) E53G probably benign Het
Phex G T X: 156,051,489 (GRCm39) A469E probably damaging Het
Pigo A G 4: 43,019,352 (GRCm39) S957P probably benign Het
Ppargc1b T A 18: 61,443,946 (GRCm39) R406* probably null Het
Ppargc1b C A 18: 61,443,945 (GRCm39) R422I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Thnsl1 G T 2: 21,216,665 (GRCm39) A140S possibly damaging Het
Tm9sf3 A G 19: 41,235,076 (GRCm39) probably benign Het
Tma7 T A 9: 108,911,153 (GRCm39) probably benign Het
Tmtc2 T G 10: 105,184,354 (GRCm39) S514R probably benign Het
Unc79 G A 12: 102,965,006 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,897 (GRCm39) I119N probably damaging Het
Wiz C A 17: 32,575,876 (GRCm39) R843S probably damaging Het
Zfp275 T A X: 72,396,889 (GRCm39) S12T probably damaging Het
Other mutations in Efs
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9703:Efs UTSW 14 55,156,871 (GRCm39) missense possibly damaging 0.88
X0028:Efs UTSW 14 55,158,078 (GRCm39) nonsense probably null
Z1176:Efs UTSW 14 55,157,793 (GRCm39) missense probably benign
Posted On 2015-04-16