Incidental Mutation 'R0095:Fer'
ID16282
Institutional Source Beutler Lab
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Namefer (fms/fps related) protein kinase
SynonymsFert, Fert2
MMRRC Submission 038381-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0095 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location63896018-64139494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 63941326 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 361 (E361V)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129] [ENSMUST00000038080]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000129
AA Change: E361V

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: E361V

DomainStartEndE-ValueType
FCH 1 92 1.29e-27 SMART
coiled coil region 123 174 N/A INTRINSIC
low complexity region 283 294 N/A INTRINSIC
coiled coil region 308 381 N/A INTRINSIC
SH2 459 538 5.9e-30 SMART
TyrKc 564 815 6.69e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038080
SMART Domains Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127

DomainStartEndE-ValueType
SH2 89 168 5.9e-30 SMART
TyrKc 194 445 6.69e-148 SMART
Meta Mutation Damage Score 0.046 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.1%
  • 10x: 74.3%
  • 20x: 56.3%
Validation Efficiency 88% (50/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit elevated lipopolysaccharide-induced leukocyte adhesion and migration. Mutant cells also exhibit reduced phosphorylation of cortactin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 T C 1: 9,560,177 I317T possibly damaging Het
Aldh3a2 C T 11: 61,250,948 G21D probably damaging Het
Alms1 C A 6: 85,620,253 T1156N possibly damaging Het
Anxa8 G A 14: 34,086,071 A6T probably benign Het
Arhgef4 C T 1: 34,732,370 Q86* probably null Het
Atp4a T A 7: 30,720,735 I769N probably damaging Het
Cacnb2 G T 2: 14,958,775 V61F probably damaging Het
Clcf1 T G 19: 4,215,788 probably benign Het
Cmah G T 13: 24,436,685 A301S probably benign Het
Col6a4 A G 9: 106,075,356 W448R probably benign Het
Csmd1 A T 8: 16,233,051 D630E probably damaging Het
Dock10 A T 1: 80,524,071 Y1434N probably benign Het
Etl4 A G 2: 20,743,868 D137G probably damaging Het
Foxp2 C A 6: 15,196,977 A6E probably damaging Het
Gpr3 T A 4: 133,211,286 D25V probably benign Het
Gstm7 A T 3: 107,930,563 probably benign Het
Gys1 T C 7: 45,444,649 V332A possibly damaging Het
Igsf10 A T 3: 59,331,196 Y521* probably null Het
Itk T C 11: 46,342,452 D266G probably damaging Het
Kdm1a C T 4: 136,550,894 R839H probably benign Het
Lypla1 T C 1: 4,830,327 probably benign Het
Mmp1a G A 9: 7,465,620 G186D possibly damaging Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Necab1 T A 4: 14,960,027 N307Y possibly damaging Het
Olfr510 A C 7: 108,668,045 I210L probably benign Het
Plekha5 T C 6: 140,528,597 F84L probably damaging Het
Plxnb2 A G 15: 89,165,331 S562P probably benign Het
Rfx8 C T 1: 39,685,536 V222M possibly damaging Het
Rpap3 A G 15: 97,680,536 probably benign Het
Rpl6 T G 5: 121,205,839 V115G possibly damaging Het
Sec16a A T 2: 26,425,760 probably null Het
Sema3d T C 5: 12,563,347 Y464H probably damaging Het
Sgo2a T A 1: 58,015,555 N299K probably benign Het
Tecrl T C 5: 83,294,570 probably benign Het
Thsd7a T C 6: 12,320,970 T1569A probably damaging Het
U2surp T C 9: 95,500,684 probably null Het
Unc45a T C 7: 80,329,543 D567G probably damaging Het
Zfp532 A G 18: 65,624,784 Y596C probably damaging Het
Other mutations in Fer
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Fer APN 17 64037626 missense probably damaging 1.00
IGL02004:Fer APN 17 63924179 critical splice donor site probably null
IGL02103:Fer APN 17 64138928 missense probably benign 0.02
IGL02157:Fer APN 17 64138899 missense probably benign 0.03
IGL02217:Fer APN 17 64138965 missense probably benign 0.00
IGL02376:Fer APN 17 63934346 missense possibly damaging 0.69
IGL02955:Fer APN 17 63991717 critical splice donor site probably null
IGL02967:Fer APN 17 63896267 missense possibly damaging 0.69
IGL03392:Fer APN 17 63991642 missense probably damaging 0.97
R0095:Fer UTSW 17 63941326 missense possibly damaging 0.51
R0207:Fer UTSW 17 63896278 missense probably damaging 1.00
R0243:Fer UTSW 17 64078946 missense probably benign 0.00
R0309:Fer UTSW 17 64139016 makesense probably null
R0384:Fer UTSW 17 63924184 splice site probably benign
R0634:Fer UTSW 17 64035508 missense probably benign 0.40
R1885:Fer UTSW 17 64138914 missense probably damaging 0.96
R1939:Fer UTSW 17 63973128 missense probably damaging 1.00
R2427:Fer UTSW 17 63957303 missense probably benign
R2504:Fer UTSW 17 63991580 splice site probably null
R4301:Fer UTSW 17 64078910 missense probably damaging 1.00
R4404:Fer UTSW 17 63941289 critical splice acceptor site probably null
R4418:Fer UTSW 17 64029291 missense possibly damaging 0.89
R4812:Fer UTSW 17 63934297 missense probably benign
R5561:Fer UTSW 17 64037585 nonsense probably null
R5724:Fer UTSW 17 63924157 missense probably damaging 1.00
R5936:Fer UTSW 17 63924063 missense probably benign
R6157:Fer UTSW 17 64078885 missense probably damaging 1.00
R6848:Fer UTSW 17 63991606 missense probably damaging 1.00
R7175:Fer UTSW 17 63924095 missense probably benign 0.01
R7198:Fer UTSW 17 63921688 missense possibly damaging 0.84
R7438:Fer UTSW 17 64133521 missense possibly damaging 0.91
Posted On2013-01-20