Incidental Mutation 'IGL02376:Fer'
ID 291133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Name fer (fms/fps related) protein kinase
Synonyms Fert, Fert2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02376
Quality Score
Status
Chromosome 17
Chromosomal Location 63896018-64139494 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63934346 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 327 (E327G)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129] [ENSMUST00000038080]
AlphaFold P70451
Predicted Effect possibly damaging
Transcript: ENSMUST00000000129
AA Change: E327G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: E327G

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,984,554 probably benign Het
2700081O15Rik C T 19: 7,422,376 P496L probably damaging Het
Abtb1 A G 6: 88,838,484 probably benign Het
Adcy3 G A 12: 4,201,031 E597K possibly damaging Het
Adcy9 A G 16: 4,418,680 V289A probably benign Het
Akr1d1 A T 6: 37,530,285 D14V probably damaging Het
Ankrd12 T C 17: 66,042,529 probably benign Het
Arap3 T C 18: 37,978,453 T1137A possibly damaging Het
Arhgef4 A T 1: 34,806,059 Q77L probably damaging Het
Arhgef7 A G 8: 11,817,735 T444A probably damaging Het
Arr3 A C X: 100,614,675 K281Q probably damaging Het
Arrdc2 A T 8: 70,838,979 I114N probably benign Het
Atg2b A T 12: 105,645,468 F1217Y probably damaging Het
C1qtnf1 A C 11: 118,448,068 Y188S probably benign Het
Cbx6 C A 15: 79,828,299 R309L probably benign Het
Chrna9 T C 5: 65,971,159 S237P probably damaging Het
Dapk1 G A 13: 60,696,394 V76I probably benign Het
Elk4 T A 1: 132,014,550 N53K probably benign Het
Epha7 A C 4: 28,951,287 T799P probably damaging Het
Exosc2 G A 2: 31,679,875 V233M possibly damaging Het
Fam217b A G 2: 178,417,573 D3G probably benign Het
Farp1 T A 14: 121,272,856 N755K probably damaging Het
Fmnl3 A T 15: 99,318,963 F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 I658S probably damaging Het
Gemin2 A G 12: 59,021,720 D195G probably benign Het
Gtf3c1 T A 7: 125,668,996 Y875F probably benign Het
Hnrnpr G A 4: 136,319,455 G149D probably damaging Het
Krt74 A C 15: 101,754,503 noncoding transcript Het
Ltf A G 9: 111,029,624 D480G probably benign Het
Map1b A G 13: 99,435,595 L206P probably damaging Het
Meis1 T C 11: 18,881,752 M429V probably benign Het
Myh4 C A 11: 67,245,728 T444N probably benign Het
Nckap1l A T 15: 103,471,231 Y315F possibly damaging Het
Ndst3 A G 3: 123,556,798 I646T probably damaging Het
Ndufv1 T C 19: 4,007,823 probably null Het
Ogdhl T C 14: 32,343,318 Y710H probably damaging Het
Olfr1263 A G 2: 90,015,460 I177V probably benign Het
Otud7b A G 3: 96,155,037 K531R possibly damaging Het
Pax3 T C 1: 78,132,292 Y243C probably damaging Het
Pde1a A G 2: 79,875,223 probably benign Het
Pik3cb C T 9: 99,052,352 M813I probably benign Het
Prss42 A T 9: 110,803,107 D302V possibly damaging Het
Rad52 T C 6: 119,915,230 probably benign Het
Reln A T 5: 22,080,791 Y393* probably null Het
Rhbdd3 T C 11: 5,103,192 probably benign Het
Sbf2 C T 7: 110,462,956 G138D probably damaging Het
Slco1a1 A T 6: 141,924,334 probably null Het
Smg9 A G 7: 24,415,030 I265V probably benign Het
Sppl2b G T 10: 80,867,598 E565* probably null Het
Stx6 T A 1: 155,201,979 V244D probably benign Het
Tle4 T C 19: 14,594,404 N78D probably damaging Het
Tmcc3 A G 10: 94,578,567 I44V possibly damaging Het
Tnnt3 C T 7: 142,512,558 T220I possibly damaging Het
Ttn A T 2: 76,727,467 D29798E possibly damaging Het
Vtcn1 A T 3: 100,892,665 M281L probably benign Het
Zfp595 T C 13: 67,316,450 K586R possibly 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
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
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
R7723:Fer UTSW 17 63896278 missense probably damaging 1.00
R7949:Fer UTSW 17 64133508 missense probably damaging 1.00
R8064:Fer UTSW 17 63907423 missense probably benign 0.04
R8472:Fer UTSW 17 63973149 missense probably benign 0.00
R9032:Fer UTSW 17 63921772 missense probably damaging 0.99
R9085:Fer UTSW 17 63921772 missense probably damaging 0.99
R9358:Fer UTSW 17 63973081 missense possibly damaging 0.79
R9452:Fer UTSW 17 63924072 missense probably benign
R9608:Fer UTSW 17 63907332 missense probably benign
R9747:Fer UTSW 17 63907381 missense probably benign 0.34
Posted On 2015-04-16