Incidental Mutation 'R9703:Efs'
ID 729681
Institutional Source Beutler Lab
Gene Symbol Efs
Ensembl Gene ENSMUSG00000022203
Gene Name embryonal Fyn-associated substrate
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9703 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 54916535-54926126 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54919414 bp (GRCm38)
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

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 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
1600015I10Rik A G 6: 48,932,695 T625A probably benign Het
Adam20 T A 8: 40,795,934 N360K probably damaging Het
Apob T A 12: 7,980,507 L82Q probably damaging Het
Arhgap30 T G 1: 171,407,771 L571R probably damaging Het
Atg9a C T 1: 75,185,787 C493Y probably damaging Het
Brip1 T C 11: 86,062,004 T984A possibly damaging Het
Btbd9 A G 17: 30,530,226 V38A possibly damaging Het
C87977 T A 4: 144,212,940 D9V probably damaging Het
Crocc2 C A 1: 93,202,722 D908E probably benign Het
Crybg3 C G 16: 59,555,576 A58P probably damaging Het
Cts7 T C 13: 61,356,536 N71S probably damaging Het
Ddx46 A G 13: 55,676,822 Y962C probably damaging Het
Dock10 G A 1: 80,539,823 R1373C probably damaging Het
Dock9 A T 14: 121,544,577 *2043R probably null Het
Esyt1 C T 10: 128,518,927 probably null Het
Extl3 G T 14: 65,054,654 R907S probably damaging Het
Fcgbp G A 7: 28,106,975 V2123M probably damaging Het
Gas2l3 C T 10: 89,414,081 A392T probably benign Het
Golm1 A T 13: 59,649,619 D137E probably benign Het
Grxcr2 T C 18: 41,991,923 D140G possibly damaging Het
Hist2h2aa2 G A 3: 96,240,241 R4C probably benign Het
Hrh1 G A 6: 114,481,018 C420Y probably benign Het
Ints13 A T 6: 146,557,565 L316Q probably damaging Het
Iws1 T A 18: 32,079,685 D55E probably damaging Het
Kcnrg CACAACAA CACAA 14: 61,607,560 probably benign Het
Klrc2 G C 6: 129,656,444 S215* probably null Het
Mpp5 T A 12: 78,797,076 I18K probably benign Het
Muc5b A G 7: 141,871,798 T4727A possibly damaging Het
Nsd3 T C 8: 25,641,212 S198P probably benign Het
Olfr133 A T 17: 38,148,965 I126F possibly damaging Het
Olfr807 A T 10: 129,755,417 I11N possibly damaging Het
Ovch2 T A 7: 107,784,570 I523F probably damaging Het
Pcdhb1 T A 18: 37,265,966 D323E probably damaging Het
Pfkl T A 10: 77,990,308 probably null Het
Pigc T A 1: 161,970,607 F53I probably benign Het
Prph2 G A 17: 46,923,521 A339T unknown Het
Prrc2a T C 17: 35,159,344 K452E unknown Het
Rab36 T C 10: 75,050,642 W151R possibly damaging Het
Sdk1 A G 5: 142,114,528 T1438A possibly damaging Het
Slc25a17 A T 15: 81,339,992 I55K probably damaging Het
Smg1 A T 7: 118,140,521 I3401N possibly damaging Het
Smpd3 T A 8: 106,265,081 H280L probably damaging Het
Srsf10 A G 4: 135,863,842 H202R probably benign Het
Swap70 C T 7: 110,273,305 R376C probably damaging Het
Syde1 G T 10: 78,585,723 L665M probably damaging Het
Tha1 A G 11: 117,871,037 V126A probably damaging Het
Tln2 T C 9: 67,386,656 H230R probably damaging Het
Tnc G A 4: 63,971,175 A1698V probably benign Het
Twist2 C A 1: 91,802,022 S132R probably damaging Het
Ubr1 C T 2: 120,901,611 C1170Y probably damaging Het
Vwa1 G A 4: 155,772,879 P154L probably damaging 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
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
R8896:Efs UTSW 14 54920299 missense possibly damaging 0.80
R9438:Efs UTSW 14 54919411 missense
X0028:Efs UTSW 14 54920621 nonsense probably null
Z1176:Efs UTSW 14 54920336 missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTATTTAGTCCTGCCCGC -3'
(R):5'- TAGCTTGGGACTCCAGCACTAG -3'

Sequencing Primer
(F):5'- CCCTGTCTCACCGATGGC -3'
(R):5'- TAGCCCACACCACTTGAGTG -3'
Posted On 2022-10-06