Incidental Mutation 'R5946:Efs'
ID 472197
Institutional Source Beutler Lab
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 # R5946 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 55153992-55163583 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 55156951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000227037] [ENSMUST00000227587]
AlphaFold Q64355
Predicted Effect probably null
Transcript: ENSMUST00000022813
SMART Domains Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203

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 null
Transcript: ENSMUST00000227037
Predicted Effect probably benign
Transcript: ENSMUST00000227587
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,678 (GRCm39) F1137S probably damaging Het
Actr6 G T 10: 89,564,054 (GRCm39) Q73K probably benign Het
Adamtsl3 G A 7: 82,225,265 (GRCm39) G358D probably damaging Het
Aggf1 A G 13: 95,508,084 (GRCm39) V94A probably damaging Het
Arpc3 A G 5: 122,541,459 (GRCm39) Y57C probably damaging Het
Asb2 A G 12: 103,287,814 (GRCm39) Y630H probably benign Het
Atp1a1 A T 3: 101,497,090 (GRCm39) N405K probably benign Het
C6 G T 15: 4,837,996 (GRCm39) D869Y possibly damaging Het
Cds2 A G 2: 132,139,168 (GRCm39) Y137C probably damaging Het
Ceacam12 A T 7: 17,803,131 (GRCm39) E179V probably damaging Het
Chgb T A 2: 132,634,516 (GRCm39) Y153N probably benign Het
Cit T A 5: 116,135,593 (GRCm39) L1831Q probably damaging Het
Cpne8 C A 15: 90,373,191 (GRCm39) *578L probably null Het
Cspg5 A G 9: 110,080,151 (GRCm39) T440A probably damaging Het
Dnah7a A C 1: 53,598,467 (GRCm39) V1393G probably damaging Het
Dnajb8 A G 6: 88,199,575 (GRCm39) D37G probably benign Het
Dst A G 1: 34,213,273 (GRCm39) I1063M probably benign Het
Gpatch1 A G 7: 34,991,257 (GRCm39) S596P probably damaging Het
Hbs1l C A 10: 21,217,655 (GRCm39) H190Q probably benign Het
Ighm A G 12: 113,386,329 (GRCm39) V7A unknown Het
Ivd A T 2: 118,707,370 (GRCm39) I295F possibly damaging Het
Kcnq5 A C 1: 21,575,931 (GRCm39) S258A probably damaging Het
Mad1l1 G T 5: 140,247,334 (GRCm39) P331Q probably damaging Het
Mcf2l G T 8: 13,063,922 (GRCm39) G1045C probably damaging Het
Mcoln1 T A 8: 3,558,701 (GRCm39) I233N probably damaging Het
Mmp13 T C 9: 7,276,580 (GRCm39) L225P probably damaging Het
Muc5ac G A 7: 141,371,644 (GRCm39) C2615Y possibly damaging Het
Myh7b T C 2: 155,463,315 (GRCm39) F516L probably damaging Het
Obsl1 A T 1: 75,467,851 (GRCm39) S1347R probably damaging Het
Ogn A G 13: 49,771,761 (GRCm39) N207S probably benign Het
Or2h15 C A 17: 38,441,598 (GRCm39) A162S probably benign Het
Or8b12 T A 9: 37,658,330 (GRCm39) L300Q probably damaging Het
Pcdha2 G T 18: 37,074,159 (GRCm39) V597L probably damaging Het
Pcnt T A 10: 76,217,897 (GRCm39) Y2126F possibly damaging Het
Pgbd5 A T 8: 125,101,056 (GRCm39) M400K possibly damaging Het
Pklr A T 3: 89,043,503 (GRCm39) E5V probably benign Het
Pkp4 T A 2: 59,135,411 (GRCm39) D94E probably benign Het
Ppan C T 9: 20,800,969 (GRCm39) Q111* probably null Het
Prkcb A G 7: 122,143,926 (GRCm39) N330S probably benign Het
Prl4a1 T A 13: 28,202,499 (GRCm39) W25R probably damaging Het
Rars2 T A 4: 34,656,855 (GRCm39) H501Q possibly damaging Het
Ryr2 T C 13: 11,741,839 (GRCm39) D2114G probably damaging Het
Serinc2 G T 4: 130,149,314 (GRCm39) T351K possibly damaging Het
Slc22a12 A G 19: 6,587,881 (GRCm39) F358L probably damaging Het
Sorcs2 A C 5: 36,186,427 (GRCm39) V905G probably damaging Het
Tekt3 G C 11: 62,985,573 (GRCm39) A460P probably damaging Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Tmc5 A T 7: 118,269,948 (GRCm39) E899D probably damaging Het
Tmem268 C T 4: 63,486,746 (GRCm39) P90S probably damaging Het
Trim38 A G 13: 23,966,717 (GRCm39) M55V probably benign Het
Trip10 T G 17: 57,557,963 (GRCm39) V50G probably damaging Het
Usp25 T A 16: 76,911,942 (GRCm39) C990* probably null Het
Uts2 A G 4: 151,083,506 (GRCm39) D39G probably benign Het
Vezf1 T A 11: 87,964,560 (GRCm39) C49* probably null Het
Wee2 T A 6: 40,440,146 (GRCm39) N431K probably null Het
Yeats2 C A 16: 20,026,513 (GRCm39) Y796* probably null Het
Zfp592 G A 7: 80,687,645 (GRCm39) G890D possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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
Predicted Primers PCR Primer
(F):5'- GGCTTGGCTAAGAATACCCG -3'
(R):5'- TCTGAAGGTGAGATCCTGGG -3'

Sequencing Primer
(F):5'- TGGCTAAGAATACCCGTTCCC -3'
(R):5'- GGAGACCCCACCAGAAGG -3'
Posted On 2017-03-31