Incidental Mutation 'R7949:Fer'
ID 649485
Institutional Source Beutler Lab
Gene Symbol Fer
Ensembl Gene ENSMUSG00000000127
Gene Name FER tyrosine kinase
Synonyms C330004K01Rik, Fert, Fert2
MMRRC Submission 045994-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7949 (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 64440503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 707 (S707T)
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: S707T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: S707T

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: S337T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: S337T

DomainStartEndE-ValueType
SH2 89 168 5.9e-30 SMART
TyrKc 194 445 6.69e-148 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,303,353 (GRCm39) T6111M probably damaging Het
Adprhl1 T G 8: 13,274,225 (GRCm39) R844S possibly damaging Het
Aldh1b1 A G 4: 45,802,807 (GRCm39) E115G possibly damaging Het
Anp32a A G 9: 62,280,948 (GRCm39) E170G unknown Het
Arhgap27 A G 11: 103,228,595 (GRCm39) S349P probably damaging Het
Asns T A 6: 7,685,328 (GRCm39) I110F probably damaging Het
Atad3a T C 4: 155,833,152 (GRCm39) H437R possibly damaging Het
Atl2 C A 17: 80,167,289 (GRCm39) R244L probably damaging Het
Bcl2l14 A T 6: 134,407,083 (GRCm39) D222V probably damaging Het
Ccdc102a G T 8: 95,631,913 (GRCm39) Q498K probably damaging Het
Cdc14b T C 13: 64,338,212 (GRCm39) probably null Het
Cdcp3 G A 7: 130,895,324 (GRCm39) probably null Het
Cep162 T A 9: 87,088,901 (GRCm39) M994L probably benign Het
Ddx18 A G 1: 121,483,047 (GRCm39) Y580H probably damaging Het
Entpd6 C A 2: 150,612,197 (GRCm39) probably null Het
Gabra6 A G 11: 42,207,826 (GRCm39) V215A probably benign Het
Gm20671 A G 5: 32,977,288 (GRCm39) V142A probably benign Het
Gtf3c1 G T 7: 125,250,253 (GRCm39) N1439K probably benign Het
Igbp1b T C 6: 138,635,414 (GRCm39) K10R probably benign Het
Ighv5-8 TATATATATATATATATATATATA TATATATATATATATATATATATATA 12: 113,618,563 (GRCm39) probably null Het
Igkv12-44 A T 6: 69,791,874 (GRCm39) S30T probably benign Het
Immt A T 6: 71,851,327 (GRCm39) R563* probably null Het
Jakmip1 A T 5: 37,339,492 (GRCm39) Q1231L probably damaging Het
Jsrp1 T C 10: 80,647,906 (GRCm39) T51A probably benign Het
Krtap31-1 A G 11: 99,799,144 (GRCm39) T116A possibly damaging Het
Lrp8 T A 4: 107,660,524 (GRCm39) D61E probably damaging Het
Mark2 T C 19: 7,262,081 (GRCm39) D311G probably benign Het
Men1 C T 19: 6,388,323 (GRCm39) S314L possibly damaging Het
Nxpe2 T C 9: 48,234,397 (GRCm39) N290S possibly damaging Het
Or2f2 T C 6: 42,767,588 (GRCm39) V205A possibly damaging Het
Or5b105 T A 19: 13,080,610 (GRCm39) probably null Het
Pcolce2 A T 9: 95,576,688 (GRCm39) T320S probably benign Het
Phc2 C T 4: 128,603,401 (GRCm39) T177M probably damaging Het
Phf21b G T 15: 84,676,036 (GRCm39) P337H probably damaging Het
Pinlyp G T 7: 24,245,375 (GRCm39) T15K probably damaging Het
Ppox A T 1: 171,105,521 (GRCm39) S307R probably benign Het
Ptk7 T A 17: 46,897,387 (GRCm39) E315V possibly damaging Het
Pxk T C 14: 8,144,233 (GRCm38) I327T probably damaging Het
Rabgap1 A T 2: 37,453,491 (GRCm39) K973I probably benign Het
Rbbp8 A T 18: 11,851,892 (GRCm39) I238L probably benign Het
Runx2 T A 17: 45,046,442 (GRCm39) D109V possibly damaging Het
Serpinb6a G A 13: 34,107,003 (GRCm39) S183L probably benign Het
Slco1a8 C A 6: 141,939,991 (GRCm39) G171C probably damaging Het
Sptlc3 T C 2: 139,467,795 (GRCm39) I451T possibly damaging Het
Sugp1 A T 8: 70,509,153 (GRCm39) Y142F possibly damaging Het
Sumf2 T C 5: 129,881,759 (GRCm39) F98S probably damaging Het
Tmem120a C T 5: 135,771,220 (GRCm39) E39K possibly damaging Het
Tnxb C T 17: 34,936,103 (GRCm39) P2680L probably damaging Het
Zfp78 C G 7: 6,382,365 (GRCm39) R472G 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
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
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'- CGATTCTTACCTGTGACAGAATTG -3'
(R):5'- TTACCCCAGCCACACTTGTG -3'

Sequencing Primer
(F):5'- GTCTGGTAAATCACAAGCACTCTTC -3'
(R):5'- GAGTGCTTCGTGCTGATCCAG -3'
Posted On 2020-09-15