Incidental Mutation 'IGL01625:Fer'
ID92702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Namefer (fms/fps related) protein kinase
SynonymsFert, Fert2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01625
Quality Score
Status
Chromosome17
Chromosomal Location63896018-64139494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64037626 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 630 (Q630L)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129] [ENSMUST00000038080]
Predicted Effect probably damaging
Transcript: ENSMUST00000000129
AA Change: Q630L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: Q630L

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 damaging
Transcript: ENSMUST00000038080
AA Change: Q260L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: Q260L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,043,147 H37Q possibly damaging Het
2210010C04Rik A C 6: 41,032,948 S151A probably benign Het
Akr1c19 T A 13: 4,233,817 I16N probably damaging Het
Arpc1b T C 5: 145,121,745 probably null Het
Bzw1 A G 1: 58,401,440 T191A probably benign Het
Cacna1h T C 17: 25,383,485 D1523G probably damaging Het
Cacna1h G A 17: 25,385,712 T1209I possibly damaging Het
Cdc20b T C 13: 113,059,785 L148P possibly damaging Het
Cubn A G 2: 13,306,274 F3147L possibly damaging Het
Dagla A G 19: 10,251,202 probably benign Het
Dnah9 T C 11: 66,044,645 N1983D probably damaging Het
Fbxw10 G A 11: 62,860,027 D479N probably damaging Het
Gbp5 A G 3: 142,503,028 N111D probably damaging Het
Gm8127 T G 14: 43,291,063 probably benign Het
Heatr1 T A 13: 12,413,528 N814K probably damaging Het
Iba57 G A 11: 59,158,949 R191W probably damaging Het
Itgae C A 11: 73,119,437 F584L probably benign Het
Kdm5b A G 1: 134,617,968 K956E possibly damaging Het
Muc4 C T 16: 32,755,544 probably benign Het
Mybpc2 T C 7: 44,516,913 K218E possibly damaging Het
Pcdh10 T C 3: 45,379,397 S49P probably damaging Het
Rai14 T C 15: 10,572,374 D889G probably benign Het
Rbpjl A G 2: 164,407,785 K102R possibly damaging Het
Retreg2 A G 1: 75,144,715 probably benign Het
Rfc4 A T 16: 23,115,823 L149Q probably damaging Het
Rft1 T A 14: 30,676,896 D274E possibly damaging Het
Rlf A T 4: 121,188,260 S143R possibly damaging Het
Rptn T A 3: 93,397,894 S845T probably benign Het
Slamf8 C A 1: 172,582,482 D267Y probably damaging Het
Smoc2 C T 17: 14,325,614 S55L probably damaging Het
Sptan1 C T 2: 30,026,114 A2038V probably damaging Het
Stx17 C A 4: 48,181,526 P210T probably damaging Het
Tbc1d5 A G 17: 50,917,573 Y317H probably benign Het
Tenm4 C A 7: 96,885,358 T1737N probably damaging Het
Tesk2 T C 4: 116,771,801 F116L possibly damaging Het
Tln2 T C 9: 67,370,623 S370G probably damaging Het
Tm6sf2 G T 8: 70,076,083 G162C probably null Het
Togaram2 A C 17: 71,714,698 E718D probably benign Het
Ttn A C 2: 76,747,983 F15862V probably damaging Het
Uba6 T A 5: 86,120,529 R916* probably null Het
Umodl1 A G 17: 30,996,255 M1018V probably benign Het
Wdr26 G A 1: 181,191,816 T332I possibly damaging Het
Xdh A T 17: 73,916,786 probably null Het
Other mutations in Fer
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-12-09