Incidental Mutation 'R9526:Rftn1'
ID 719281
Institutional Source Beutler Lab
Gene Symbol Rftn1
Ensembl Gene ENSMUSG00000039316
Gene Name raftlin lipid raft linker 1
Synonyms 2310015N21Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9526 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 50300287-50497525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50301237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 537 (N537K)
Ref Sequence ENSEMBL: ENSMUSP00000046524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044503] [ENSMUST00000113195]
AlphaFold Q6A0D4
Predicted Effect probably benign
Transcript: ENSMUST00000044503
AA Change: N537K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: N537K

DomainStartEndE-ValueType
Pfam:Raftlin 1 473 1.3e-219 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113195
AA Change: N259K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: N259K

DomainStartEndE-ValueType
Pfam:Raftlin 1 207 1.5e-104 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for null mutations have defects in T cell activation, T cell help to B cells, and Th17 differentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,230,393 (GRCm39) L287S probably damaging Het
Adgrf1 A T 17: 43,616,237 (GRCm39) Q292L possibly damaging Het
Arhgap32 A G 9: 32,172,026 (GRCm39) D1602G probably benign Het
Atrnl1 C T 19: 57,617,551 (GRCm39) P109S probably damaging Het
Camsap1 G A 2: 25,843,962 (GRCm39) H230Y probably benign Het
Capns1 C T 7: 29,891,612 (GRCm39) C144Y probably damaging Het
Ccdc17 G A 4: 116,455,994 (GRCm39) V341I possibly damaging Het
Cd36 T C 5: 18,002,033 (GRCm39) T323A probably damaging Het
Cdc14a CGCTGCTGCTGCTGCTGCTG CGCTGCTGCTGCTGCTG 3: 116,087,509 (GRCm39) probably benign Het
Ckap2l G A 2: 129,111,161 (GRCm39) Q679* probably null Het
Clec4g T A 8: 3,768,565 (GRCm39) N93I probably benign Het
Cntnap2 T A 6: 45,992,165 (GRCm39) L364Q probably damaging Het
Cul9 A G 17: 46,841,026 (GRCm39) M748T probably benign Het
Dnah11 A T 12: 118,150,711 (GRCm39) I349N probably damaging Het
Dnajc14 T A 10: 128,642,260 (GRCm39) Y61N probably benign Het
Dock6 A T 9: 21,713,802 (GRCm39) Y1909* probably null Het
Dock8 T A 19: 25,165,739 (GRCm39) D1874E probably benign Het
Dpm1 A G 2: 168,072,210 (GRCm39) S22P probably benign Het
Dysf T C 6: 84,128,885 (GRCm39) L1385P probably damaging Het
Egf T C 3: 129,491,421 (GRCm39) T859A probably benign Het
Eif2b1 A T 5: 124,711,867 (GRCm39) S162T probably benign Het
Emilin1 T C 5: 31,075,484 (GRCm39) L575P probably damaging Het
Erp27 T A 6: 136,886,550 (GRCm39) Q161L probably benign Het
Fbxw10 C A 11: 62,765,945 (GRCm39) D738E possibly damaging Het
Fcgbp T G 7: 27,790,937 (GRCm39) C733G probably damaging Het
Fgb T A 3: 82,957,122 (GRCm39) probably benign Het
Gata3os A T 2: 9,887,634 (GRCm39) T12S unknown Het
Got1l1 G T 8: 27,688,503 (GRCm39) Q283K probably benign Het
Grk2 G A 19: 4,340,871 (GRCm39) R226C probably damaging Het
Hoxa10 T C 6: 52,211,334 (GRCm39) D194G probably benign Het
Ipcef1 G A 10: 6,840,620 (GRCm39) T363I probably damaging Het
Itga10 C A 3: 96,564,273 (GRCm39) T922N probably damaging Het
Itgad T C 7: 127,777,552 (GRCm39) I144T probably benign Het
Kat6b C A 14: 21,567,564 (GRCm39) Q208K possibly damaging Het
Kidins220 T G 12: 25,088,383 (GRCm39) L1042R probably damaging Het
Kmt2c T C 5: 25,486,355 (GRCm39) S4733G probably damaging Het
Lrig3 A G 10: 125,850,736 (GRCm39) I1101V probably benign Het
Lrp1 T A 10: 127,431,229 (GRCm39) N311I probably damaging Het
Man2a1 A T 17: 64,958,310 (GRCm39) K275I probably benign Het
Map3k10 T A 7: 27,364,434 (GRCm39) N318I probably damaging Het
Map3k8 G A 18: 4,333,869 (GRCm39) R408W probably damaging Het
Mast1 A G 8: 85,647,805 (GRCm39) M523T probably damaging Het
Mast4 T C 13: 102,873,593 (GRCm39) H1925R probably benign Het
Med12l C T 3: 58,984,207 (GRCm39) S461L probably damaging Het
Mfap1a T C 2: 121,333,237 (GRCm39) K65E probably damaging Het
Mical1 T C 10: 41,358,602 (GRCm39) S507P probably benign Het
Miga2 T C 2: 30,268,400 (GRCm39) V433A unknown Het
Mpdz T C 4: 81,274,653 (GRCm39) T848A probably benign Het
Mycn A G 12: 12,989,778 (GRCm39) V206A probably benign Het
Ndst1 G A 18: 60,838,220 (GRCm39) Q342* probably null Het
Nectin1 A G 9: 43,702,369 (GRCm39) M39V probably benign Het
Nectin4 A T 1: 171,210,209 (GRCm39) R234* probably null Het
Ngb C G 12: 87,145,317 (GRCm39) V113L possibly damaging Het
Nphp3 T A 9: 103,913,337 (GRCm39) Y990N probably damaging Het
Nrdc T C 4: 108,915,833 (GRCm39) probably null Het
Or10a2 A T 7: 106,673,739 (GRCm39) K235* probably null Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or5p60 T A 7: 107,723,801 (GRCm39) Y223F probably benign Het
Osbpl6 A G 2: 76,415,603 (GRCm39) Y655C probably damaging Het
Pcdhgb4 A G 18: 37,855,882 (GRCm39) Q759R probably benign Het
Pcsk4 T C 10: 80,161,800 (GRCm39) D164G probably damaging Het
Pde4d T A 13: 110,071,915 (GRCm39) I303N probably damaging Het
Pdf T A 8: 107,774,972 (GRCm39) M87L probably benign Het
Pigb A G 9: 72,941,840 (GRCm39) S140P probably damaging Het
Plch1 T A 3: 63,758,549 (GRCm39) probably benign Het
Plxna1 G T 6: 89,319,633 (GRCm39) D557E probably benign Het
Polr2e C T 10: 79,872,792 (GRCm39) V149M probably benign Het
Polr3a A T 14: 24,503,313 (GRCm39) C1174S probably benign Het
Prb1c T A 6: 132,338,891 (GRCm39) N109I unknown Het
Psmd2 T A 16: 20,474,369 (GRCm39) S308R probably benign Het
Ptger1 T A 8: 84,396,002 (GRCm39) V353E probably damaging Het
Ptprc A G 1: 137,996,111 (GRCm39) M940T probably benign Het
Pus7l T C 15: 94,425,781 (GRCm39) N540S probably damaging Het
Rap1gds1 T A 3: 138,756,317 (GRCm39) I13L probably benign Het
Rasl10b A T 11: 83,303,590 (GRCm39) N49I probably damaging Het
Rnase4 A G 14: 51,342,645 (GRCm39) Y123C probably damaging Het
Rnf181 A C 6: 72,338,302 (GRCm39) N26K probably benign Het
Rnf31 G A 14: 55,836,269 (GRCm39) probably null Het
Rpusd3 C G 6: 113,393,200 (GRCm39) C304S unknown Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Ryr3 C A 2: 112,664,270 (GRCm39) V1694L probably benign Het
Sanbr T C 11: 23,559,098 (GRCm39) Y372C probably damaging Het
Sephs2 T C 7: 126,872,346 (GRCm39) D249G probably damaging Het
Serpina10 A G 12: 103,583,217 (GRCm39) I409T probably damaging Het
Serpina5 C T 12: 104,069,403 (GRCm39) A205V probably damaging Het
Sfr1 T A 19: 47,723,453 (GRCm39) V319E probably damaging Het
Skil T A 3: 31,171,639 (GRCm39) Y542N probably benign Het
Slc15a5 T C 6: 138,049,954 (GRCm39) T154A probably benign Het
Slc27a2 T A 2: 126,429,846 (GRCm39) L618Q probably damaging Het
Slc6a6 A T 6: 91,726,808 (GRCm39) Y483F probably benign Het
Sprr1b T C 3: 92,344,443 (GRCm39) I144M probably benign Het
Stat5a T A 11: 100,771,161 (GRCm39) V580E Het
Tnk1 C T 11: 69,746,011 (GRCm39) D305N probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Trav12-2 A G 14: 53,854,085 (GRCm39) N20D probably benign Het
Trav16 T A 14: 53,981,046 (GRCm39) N78K probably damaging Het
Trf C T 9: 103,104,130 (GRCm39) A78T probably damaging Het
Ttn A G 2: 76,711,543 (GRCm39) probably benign Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Vmn2r94 A T 17: 18,477,261 (GRCm39) F383L probably benign Het
Vwa2 T C 19: 56,895,208 (GRCm39) S461P probably benign Het
Zfp991 G A 4: 147,264,327 (GRCm39) G568E probably damaging Het
Zfpl1 A G 19: 6,134,440 (GRCm39) F15S probably damaging Het
Other mutations in Rftn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Rftn1 APN 17 50,362,405 (GRCm39) missense probably benign 0.01
IGL02318:Rftn1 APN 17 50,343,998 (GRCm39) missense possibly damaging 0.95
IGL02568:Rftn1 APN 17 50,344,027 (GRCm39) missense probably damaging 1.00
IGL02873:Rftn1 APN 17 50,476,180 (GRCm39) utr 5 prime probably benign
IGL02965:Rftn1 APN 17 50,362,280 (GRCm39) missense probably benign 0.32
BB001:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB003:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB004:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB005:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB011:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB013:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB014:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
BB015:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R0544:Rftn1 UTSW 17 50,301,289 (GRCm39) missense possibly damaging 0.71
R2219:Rftn1 UTSW 17 50,476,173 (GRCm39) start codon destroyed probably null 1.00
R4542:Rftn1 UTSW 17 50,362,259 (GRCm39) splice site probably null
R5318:Rftn1 UTSW 17 50,301,486 (GRCm39) missense probably benign 0.09
R5605:Rftn1 UTSW 17 50,354,435 (GRCm39) missense probably damaging 1.00
R5700:Rftn1 UTSW 17 50,309,697 (GRCm39) missense probably damaging 1.00
R5853:Rftn1 UTSW 17 50,354,354 (GRCm39) missense probably damaging 1.00
R6459:Rftn1 UTSW 17 50,354,334 (GRCm39) missense probably benign 0.02
R6994:Rftn1 UTSW 17 50,344,019 (GRCm39) missense possibly damaging 0.82
R7210:Rftn1 UTSW 17 50,301,335 (GRCm39) nonsense probably null
R7283:Rftn1 UTSW 17 50,354,469 (GRCm39) missense probably damaging 1.00
R7348:Rftn1 UTSW 17 50,311,351 (GRCm39) missense probably damaging 1.00
R7444:Rftn1 UTSW 17 50,354,435 (GRCm39) missense probably damaging 1.00
R7684:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7685:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7686:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7881:Rftn1 UTSW 17 50,354,463 (GRCm39) missense probably benign 0.08
R7924:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7926:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7927:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7928:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R7943:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8052:Rftn1 UTSW 17 50,393,607 (GRCm39) missense probably damaging 0.98
R8162:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8164:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8248:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8249:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8250:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8271:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8272:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8273:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8296:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8297:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8300:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8315:Rftn1 UTSW 17 50,309,665 (GRCm39) missense possibly damaging 0.50
R8551:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8552:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8554:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8555:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8725:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8736:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
R8739:Rftn1 UTSW 17 50,354,408 (GRCm39) missense probably damaging 1.00
Z1176:Rftn1 UTSW 17 50,476,031 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATGTGCAGAAAACAACACC -3'
(R):5'- TCCAAAGGGAAACTCAGTGC -3'

Sequencing Primer
(F):5'- ATCAGAGACCCGCGCTC -3'
(R):5'- GGGAAACTCAGTGCCAGCAAC -3'
Posted On 2022-07-18