Incidental Mutation 'R9747:Fer'
ID 732267
Institutional Source Beutler Lab
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Name FER tyrosine kinase
Synonyms C330004K01Rik, Fert, Fert2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9747 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 64170057-64446491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64214376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 103 (M103T)
Ref Sequence ENSEMBL: ENSMUSP00000000129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000129]
AlphaFold P70451
Predicted Effect probably benign
Transcript: ENSMUST00000000129
AA Change: M103T

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: M103T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,668,711 (GRCm39) S701P probably damaging Het
Acsl1 A G 8: 46,961,397 (GRCm39) K114R probably benign Het
Adam11 A G 11: 102,663,495 (GRCm39) N275D probably damaging Het
Adamts19 G A 18: 59,023,487 (GRCm39) R294H possibly damaging Het
Adamts20 C T 15: 94,180,943 (GRCm39) C1666Y probably damaging Het
Ahnak A T 19: 8,987,541 (GRCm39) I2942L possibly damaging Het
Ank1 A G 8: 23,576,993 (GRCm39) H195R probably damaging Het
Ank2 T C 3: 126,752,667 (GRCm39) T350A probably damaging Het
Asb3 T A 11: 31,008,946 (GRCm39) N243K possibly damaging Het
Atp10b C T 11: 43,088,339 (GRCm39) T315I probably benign Het
Avl9 C T 6: 56,730,825 (GRCm39) S583F probably damaging Het
Bclaf1 A G 10: 20,207,892 (GRCm39) K700E possibly damaging Het
Brd10 C A 19: 29,731,911 (GRCm39) C367F possibly damaging Het
Cacna1i G A 15: 80,246,318 (GRCm39) E571K probably benign Het
Casp1 T A 9: 5,299,322 (GRCm39) V17E probably damaging Het
Ccdc115 A T 1: 34,478,001 (GRCm39) D76E probably benign Het
Ccdc150 A T 1: 54,299,107 (GRCm39) R28* probably null Het
Cd36 T G 5: 18,019,732 (GRCm39) E123A probably benign Het
Cd5l A C 3: 87,275,104 (GRCm39) Q214H probably benign Het
Cfap46 T A 7: 139,191,907 (GRCm39) H2370L unknown Het
Cftr C A 6: 18,285,636 (GRCm39) T1148K possibly damaging Het
Col15a1 T A 4: 47,312,208 (GRCm39) L1341Q probably damaging Het
Col6a6 T C 9: 105,661,239 (GRCm39) E290G probably benign Het
D6Wsu163e A G 6: 126,938,977 (GRCm39) E404G probably benign Het
Dchs1 A T 7: 105,412,682 (GRCm39) D1239E probably damaging Het
Dennd4b C T 3: 90,177,828 (GRCm39) T430I possibly damaging Het
Dmgdh C T 13: 93,825,154 (GRCm39) P159L probably damaging Het
Dmrt3 G A 19: 25,600,003 (GRCm39) D283N probably damaging Het
Dnttip1 A G 2: 164,607,100 (GRCm39) D247G probably damaging Het
Efhc1 A T 1: 21,048,928 (GRCm39) D447V probably damaging Het
Ehhadh T C 16: 21,585,138 (GRCm39) K248E probably benign Het
Eif4enif1 T C 11: 3,163,267 (GRCm39) L34P probably damaging Het
Gabrg1 T C 5: 70,938,029 (GRCm39) M197V probably damaging Het
Galnt5 C A 2: 57,889,477 (GRCm39) T359K probably benign Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Gna12 T C 5: 140,746,602 (GRCm39) N281S probably damaging Het
Golgb1 C T 16: 36,713,769 (GRCm39) T250I probably damaging Het
Gpd1 A G 15: 99,618,004 (GRCm39) K130E probably benign Het
Gys2 A T 6: 142,395,181 (GRCm39) M428K possibly damaging Het
Hey2 A C 10: 30,709,824 (GRCm39) S310A probably benign Het
Ifi47 T C 11: 48,987,367 (GRCm39) V378A possibly damaging Het
Ighv8-12 A G 12: 115,611,640 (GRCm39) S95P probably damaging Het
Igkv1-131 G T 6: 67,743,215 (GRCm39) T56K probably damaging Het
Igsf23 T C 7: 19,675,839 (GRCm39) N127S probably benign Het
Iqgap2 T A 13: 95,821,505 (GRCm39) N546I probably damaging Het
Irf9 A G 14: 55,844,045 (GRCm39) H270R probably benign Het
Itga6 C T 2: 71,656,871 (GRCm39) S375L probably damaging Het
Jak1 T C 4: 101,016,087 (GRCm39) E857G probably benign Het
Kbtbd8 A G 6: 95,098,838 (GRCm39) T116A possibly damaging Het
Kif5a T C 10: 127,074,622 (GRCm39) I570V probably benign Het
Klhdc10 T C 6: 30,439,859 (GRCm39) M154T possibly damaging Het
Krtap6-2 A G 16: 89,216,776 (GRCm39) Y64H unknown Het
Lce1l C T 3: 92,757,828 (GRCm39) C10Y unknown Het
Lrrc72 A G 12: 36,264,371 (GRCm39) Y29H probably damaging Het
Ltbp2 A T 12: 84,915,515 (GRCm39) N181K probably damaging Het
Ly75 A G 2: 60,136,672 (GRCm39) probably null Het
Mpped1 A G 15: 83,684,305 (GRCm39) Y109C probably damaging Het
Mrgpra2a C T 7: 47,076,458 (GRCm39) V267I probably benign Het
Muc4 T A 16: 32,754,698 (GRCm38) V1524E probably benign Het
Nabp2 T A 10: 128,237,610 (GRCm39) R208* probably null Het
Ndst3 A G 3: 123,340,461 (GRCm39) F786L possibly damaging Het
Nos2 C T 11: 78,822,472 (GRCm39) P123S probably damaging Het
Nrcam T A 12: 44,645,192 (GRCm39) V1198E probably damaging Het
Oacyl A G 18: 65,880,962 (GRCm39) Q592R possibly damaging Het
Or10ak9 C T 4: 118,726,217 (GRCm39) P80S probably damaging Het
Or5as1 T A 2: 86,980,898 (GRCm39) T36S probably benign Het
Pcdhgc4 A G 18: 37,951,026 (GRCm39) Y814C probably benign Het
Pcm1 A C 8: 41,757,135 (GRCm39) H1349P probably benign Het
Pcsk6 T A 7: 65,633,470 (GRCm39) D567E probably damaging Het
Pdgfd T C 9: 6,337,310 (GRCm39) V214A probably benign Het
Plekhg3 A T 12: 76,611,367 (GRCm39) N270I probably damaging Het
Rasgrf1 T A 9: 89,877,047 (GRCm39) V804E probably benign Het
Rbl1 G T 2: 157,033,966 (GRCm39) L371I probably damaging Het
Rcl1 T A 19: 29,105,482 (GRCm39) I223N probably damaging Het
Saa4 C T 7: 46,381,077 (GRCm39) G15E probably damaging Het
Selenbp1 T C 3: 94,844,648 (GRCm39) S102P probably damaging Het
Setx G T 2: 29,064,377 (GRCm39) E232* probably null Het
Sik2 A G 9: 50,810,058 (GRCm39) F502L possibly damaging Het
Slamf9 A T 1: 172,305,782 (GRCm39) I272F unknown Het
Slc33a1 A T 3: 63,861,424 (GRCm39) D259E probably benign Het
Slc41a3 A G 6: 90,621,138 (GRCm39) I393V probably benign Het
Slk A G 19: 47,608,346 (GRCm39) D433G possibly damaging Het
Spata13 C T 14: 60,929,240 (GRCm39) P266L probably benign Het
Speer4c1 T A 5: 15,916,652 (GRCm39) Q105L probably benign Het
Srgap1 T A 10: 121,761,771 (GRCm39) I126F probably damaging Het
Srgap1 A G 10: 121,628,579 (GRCm39) S818P probably benign Het
Tbpl2 A T 2: 23,981,104 (GRCm39) C232* probably null Het
Tctn3 T G 19: 40,599,743 (GRCm39) N153T possibly damaging Het
Tdrd1 T A 19: 56,847,101 (GRCm39) V914E probably benign Het
Tmem200b A G 4: 131,649,359 (GRCm39) H93R possibly damaging Het
Tmem33 T G 5: 67,425,922 (GRCm39) N155K possibly damaging Het
Tmprss15 T C 16: 78,884,400 (GRCm39) D94G probably benign Het
Tnpo2 A G 8: 85,781,988 (GRCm39) D869G probably benign Het
Traf6 C T 2: 101,527,029 (GRCm39) R260* probably null Het
Ttn C T 2: 76,594,293 (GRCm39) V20552I possibly damaging Het
Vmn2r102 T A 17: 19,898,129 (GRCm39) D381E probably benign Het
Vmn2r92 T C 17: 18,405,201 (GRCm39) F782L possibly damaging Het
Zfc3h1 G A 10: 115,244,821 (GRCm39) D765N possibly damaging Het
Zfp472 T A 17: 33,196,271 (GRCm39) H115Q possibly damaging Het
Zmynd11 T A 13: 9,739,244 (GRCm39) N514I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCTGAAGCATTTGTACTTGAGGATG -3'
(R):5'- TCTTGGGACTGAAATGACGTC -3'

Sequencing Primer
(F):5'- CATTTGTACTTGAGGATGTTGGATAC -3'
(R):5'- GGGACTGAAATGACGTCTTATAATC -3'
Posted On 2022-11-14