Incidental Mutation 'R7175:Fer'
ID 558580
Institutional Source Beutler Lab
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Name FER tyrosine kinase
Synonyms C330004K01Rik, Fert, Fert2
MMRRC Submission 045231-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7175 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 64170057-64446491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64231090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 280 (D280E)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129]
AlphaFold P70451
Predicted Effect probably benign
Transcript: ENSMUST00000000129
AA Change: D280E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: D280E

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
Meta Mutation Damage Score 0.0726 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,831,611 (GRCm39) T1247I probably benign Het
Afdn T C 17: 14,108,869 (GRCm39) L1479P probably damaging Het
Alox12e T C 11: 70,210,534 (GRCm39) R363G probably damaging Het
Ank2 A T 3: 126,740,590 (GRCm39) S1765T unknown Het
Anks6 T C 4: 47,046,268 (GRCm39) probably null Het
Apob A C 12: 8,057,034 (GRCm39) I1839L probably benign Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Ccs T A 19: 4,883,390 (GRCm39) D136V probably damaging Het
Cd200 T C 16: 45,220,578 (GRCm39) probably null Het
Cirbp T C 10: 80,006,297 (GRCm39) S130P probably benign Het
Cpb1 A G 3: 20,317,927 (GRCm39) I199T probably benign Het
Csn3 C T 5: 88,077,586 (GRCm39) R31C probably damaging Het
Dcaf1 A T 9: 106,735,775 (GRCm39) I908F probably benign Het
Dhcr7 C T 7: 143,399,227 (GRCm39) T199I probably damaging Het
Dnah9 T A 11: 66,024,463 (GRCm39) Q277L probably benign Het
Echdc2 C A 4: 108,031,366 (GRCm39) P237T probably damaging Het
Efcab3 T C 11: 104,838,237 (GRCm39) V3625A unknown Het
Eif4g3 A G 4: 137,853,526 (GRCm39) N364S probably damaging Het
Eml6 T A 11: 29,734,231 (GRCm39) I1170L probably benign Het
Epha3 C T 16: 63,403,863 (GRCm39) R746Q probably damaging Het
Exosc5 G A 7: 25,363,794 (GRCm39) C102Y probably damaging Het
Fam91a1 A T 15: 58,302,527 (GRCm39) Y289F probably benign Het
Fbxo38 A C 18: 62,648,544 (GRCm39) F665V probably benign Het
Fcrl5 T C 3: 87,353,645 (GRCm39) V330A probably benign Het
Gpr158 A G 2: 21,373,113 (GRCm39) H16R probably benign Het
Gzmg C T 14: 56,396,979 (GRCm39) M1I probably null Het
Hectd4 C T 5: 121,411,692 (GRCm39) A456V possibly damaging Het
Hk2 T A 6: 82,711,830 (GRCm39) Q613L probably benign Het
Inhca A G 9: 103,128,988 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,938 (GRCm39) F1121L unknown Het
Lztr1 G T 16: 17,340,895 (GRCm39) C557F possibly damaging Het
Mdn1 A G 4: 32,694,634 (GRCm39) Y1119C probably damaging Het
Nfkb1 A T 3: 135,319,751 (GRCm39) L248Q probably damaging Het
Or1a1 T A 11: 74,087,004 (GRCm39) L225* probably null Het
Or1p1b T C 11: 74,130,803 (GRCm39) F138L probably benign Het
Or2g7 T A 17: 38,378,370 (GRCm39) S103T probably damaging Het
Or52e19 T C 7: 102,959,054 (GRCm39) V42A probably benign Het
Otulinl A C 15: 27,658,374 (GRCm39) D165E probably damaging Het
Pate1 T G 9: 35,596,408 (GRCm39) D119A probably damaging Het
Pcdhgc4 T C 18: 37,949,424 (GRCm39) V280A possibly damaging Het
Pik3ap1 T C 19: 41,275,929 (GRCm39) D717G probably damaging Het
Prdm13 A T 4: 21,679,473 (GRCm39) L339Q unknown Het
Rasgrf1 T A 9: 89,862,802 (GRCm39) N519K probably benign Het
Rergl A G 6: 139,473,533 (GRCm39) V39A probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sema4b T A 7: 79,848,402 (GRCm39) M1K probably null Het
Slc20a1 T G 2: 129,052,662 (GRCm39) L648R probably damaging Het
Spata31h1 T A 10: 82,122,583 (GRCm39) S3476C probably damaging Het
Speg A G 1: 75,399,134 (GRCm39) T2194A probably benign Het
Spns1 T C 7: 125,972,961 (GRCm39) D215G probably damaging Het
Tle4 A T 19: 14,429,071 (GRCm39) V717E probably damaging Het
Trim50 T A 5: 135,382,151 (GRCm39) M1K probably null Het
Trpa1 A G 1: 14,963,431 (GRCm39) V597A possibly damaging Het
Usp13 C T 3: 32,971,757 (GRCm39) Q746* probably null Het
Vmn1r35 A T 6: 66,655,906 (GRCm39) W255R probably benign Het
Vps35 A T 8: 85,990,189 (GRCm39) probably null Het
Vps54 T C 11: 21,265,028 (GRCm39) probably null Het
Zfp318 T A 17: 46,697,774 (GRCm39) L210Q probably damaging Het
Zfp319 C A 8: 96,055,410 (GRCm39) K264N probably damaging Het
Zfp62 C T 11: 49,107,580 (GRCm39) S557L probably damaging Het
Zgrf1 T C 3: 127,357,239 (GRCm39) S822P probably damaging Het
Zxdc A G 6: 90,346,645 (GRCm39) D2G possibly damaging Het
Zzef1 T C 11: 72,742,727 (GRCm39) I769T possibly 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
IGL03392:Fer APN 17 64,298,637 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- ATTCTACAGATGAAGAAACCAAGGT -3'
(R):5'- CAAACTTTGAGGAATTTAATGCTGATG -3'

Sequencing Primer
(F):5'- CAGGCTGCGTGACTAGATCTAG -3'
(R):5'- TGCTGATGAAATACCGCAACTG -3'
Posted On 2019-06-26