Incidental Mutation 'IGL03392:Fer'
ID 421099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Name FER tyrosine kinase
Synonyms C330004K01Rik, Fert, Fert2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03392
Quality Score
Status
Chromosome 17
Chromosomal Location 64170057-64446491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64298637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 529 (I529V)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129] [ENSMUST00000038080]
AlphaFold P70451
Predicted Effect probably damaging
Transcript: ENSMUST00000000129
AA Change: I529V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: I529V

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
AA Change: I159V

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: I159V

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Ipo5 T A 14: 121,180,099 (GRCm39) D844E probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or4f59 T A 2: 111,873,321 (GRCm39) N19Y probably benign Het
Or51ai2 T C 7: 103,587,232 (GRCm39) V215A probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Pus7l T C 15: 94,434,449 (GRCm39) D339G probably damaging Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Slc13a5 G A 11: 72,136,004 (GRCm39) T469I probably damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P probably damaging Het
Other mutations in Fer
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Fer APN 17 64,344,621 (GRCm39) missense probably damaging 1.00
IGL02004:Fer APN 17 64,231,174 (GRCm39) critical splice donor site probably null
IGL02103:Fer APN 17 64,445,923 (GRCm39) missense probably benign 0.02
IGL02157:Fer APN 17 64,445,894 (GRCm39) missense probably benign 0.03
IGL02217:Fer APN 17 64,445,960 (GRCm39) missense probably benign 0.00
IGL02376:Fer APN 17 64,241,341 (GRCm39) missense possibly damaging 0.69
IGL02955:Fer APN 17 64,298,712 (GRCm39) critical splice donor site probably null
IGL02967:Fer APN 17 64,203,262 (GRCm39) missense possibly damaging 0.69
R0095:Fer UTSW 17 64,248,321 (GRCm39) missense possibly damaging 0.51
R0095:Fer UTSW 17 64,248,321 (GRCm39) missense possibly damaging 0.51
R0207:Fer UTSW 17 64,203,273 (GRCm39) missense probably damaging 1.00
R0243:Fer UTSW 17 64,385,941 (GRCm39) missense probably benign 0.00
R0309:Fer UTSW 17 64,446,011 (GRCm39) makesense probably null
R0384:Fer UTSW 17 64,231,179 (GRCm39) splice site probably benign
R0634:Fer UTSW 17 64,342,503 (GRCm39) missense probably benign 0.40
R1885:Fer UTSW 17 64,445,909 (GRCm39) missense probably damaging 0.96
R1939:Fer UTSW 17 64,280,123 (GRCm39) missense probably damaging 1.00
R2427:Fer UTSW 17 64,264,298 (GRCm39) missense probably benign
R2504:Fer UTSW 17 64,298,575 (GRCm39) splice site probably null
R4301:Fer UTSW 17 64,385,905 (GRCm39) missense probably damaging 1.00
R4404:Fer UTSW 17 64,248,284 (GRCm39) critical splice acceptor site probably null
R4418:Fer UTSW 17 64,336,286 (GRCm39) missense possibly damaging 0.89
R4812:Fer UTSW 17 64,241,292 (GRCm39) missense probably benign
R5561:Fer UTSW 17 64,344,580 (GRCm39) nonsense probably null
R5724:Fer UTSW 17 64,231,152 (GRCm39) missense probably damaging 1.00
R5936:Fer UTSW 17 64,231,058 (GRCm39) missense probably benign
R6157:Fer UTSW 17 64,385,880 (GRCm39) missense probably damaging 1.00
R6848:Fer UTSW 17 64,298,601 (GRCm39) missense probably damaging 1.00
R7175:Fer UTSW 17 64,231,090 (GRCm39) missense probably benign 0.01
R7198:Fer UTSW 17 64,228,683 (GRCm39) missense possibly damaging 0.84
R7438:Fer UTSW 17 64,440,516 (GRCm39) missense possibly damaging 0.91
R7723:Fer UTSW 17 64,203,273 (GRCm39) missense probably damaging 1.00
R7949:Fer UTSW 17 64,440,503 (GRCm39) missense probably damaging 1.00
R8064:Fer UTSW 17 64,214,418 (GRCm39) missense probably benign 0.04
R8472:Fer UTSW 17 64,280,144 (GRCm39) missense probably benign 0.00
R9032:Fer UTSW 17 64,228,767 (GRCm39) missense probably damaging 0.99
R9085:Fer UTSW 17 64,228,767 (GRCm39) missense probably damaging 0.99
R9358:Fer UTSW 17 64,280,076 (GRCm39) missense possibly damaging 0.79
R9452:Fer UTSW 17 64,231,067 (GRCm39) missense probably benign
R9608:Fer UTSW 17 64,214,327 (GRCm39) missense probably benign
R9747:Fer UTSW 17 64,214,376 (GRCm39) missense probably benign 0.34
Posted On 2016-08-02