Incidental Mutation 'R5318:Rftn1'
ID 405955
Institutional Source Beutler Lab
Gene Symbol Rftn1
Ensembl Gene ENSMUSG00000039316
Gene Name raftlin lipid raft linker 1
Synonyms 2310015N21Rik
MMRRC Submission 042901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5318 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 49992257-50190674 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49994458 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 454 (N454K)
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: N454K

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: N454K

DomainStartEndE-ValueType
Pfam:Raftlin 1 473 1.3e-219 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113195
AA Change: N176K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: N176K

DomainStartEndE-ValueType
Pfam:Raftlin 1 207 1.5e-104 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G A 17: 35,567,986 E74K possibly damaging Het
Anapc15 C T 7: 101,898,603 P68L probably damaging Het
Ankfn1 A G 11: 89,391,928 S298P probably damaging Het
Arfgef2 A C 2: 166,873,971 K1393N probably damaging Het
Atp4a T A 7: 30,715,329 V181E probably damaging Het
Bin3 A G 14: 70,134,512 D134G possibly damaging Het
Cabs1 A G 5: 87,980,566 T359A possibly damaging Het
Cblb A T 16: 52,186,198 K754N possibly damaging Het
Ccdc153 A T 9: 44,245,765 R135* probably null Het
Cel T C 2: 28,557,708 E398G possibly damaging Het
Clip1 G A 5: 123,613,084 probably benign Het
Dnase2b C A 3: 146,582,455 R295L probably benign Het
Dnm3 G A 1: 162,011,807 Q194* probably null Het
Dtx2 T A 5: 136,012,100 S120T possibly damaging Het
Fat3 A T 9: 16,376,629 S533T probably damaging Het
Foxred2 T C 15: 77,952,398 I306V probably benign Het
Gdpd5 A T 7: 99,453,027 T278S probably benign Het
Gli2 T A 1: 118,844,470 T502S probably damaging Het
Gm10436 A T 12: 88,176,228 C207S probably benign Het
Gm21830 A T 2: 67,432,814 probably null Het
Gm38394 A G 1: 133,658,115 S495P possibly damaging Het
Gm5617 T A 9: 48,495,911 I115N possibly damaging Het
Gpr75 G T 11: 30,892,459 A455S probably benign Het
Grik3 A G 4: 125,694,136 E683G probably damaging Het
Grin2b T C 6: 135,733,918 I877V probably damaging Het
Gsg1l2 G T 11: 67,782,521 C109F possibly damaging Het
H2-Q4 G A 17: 35,383,311 V341I possibly damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Kif5c A G 2: 49,671,828 K68R probably benign Het
Lct T A 1: 128,304,372 H580L probably damaging Het
Lrrtm4 A G 6: 80,022,512 I302M probably damaging Het
Mef2b A T 8: 70,166,843 R228W probably damaging Het
Mtus2 T A 5: 148,076,572 D58E probably benign Het
Myh15 T G 16: 49,110,471 S603A probably damaging Het
Olfr26 C T 9: 38,855,448 P129S probably damaging Het
Olfr283 A G 15: 98,378,642 I156T possibly damaging Het
Olfr54 T C 11: 51,027,593 V197A probably benign Het
P2rx4 G A 5: 122,719,148 C149Y probably null Het
Proca1 T A 11: 78,201,857 V43E possibly damaging Het
Rrp15 T C 1: 186,721,546 T235A probably benign Het
Serpina6 T C 12: 103,653,962 E176G possibly damaging Het
Shprh T G 10: 11,166,557 I761M probably benign Het
Smg1 A T 7: 118,160,204 probably benign Het
Snupn T C 9: 56,957,061 S15P probably damaging Het
Tbc1d15 A T 10: 115,208,969 Y509* probably null Het
Tcf4 T C 18: 69,465,430 V72A probably benign Het
Tdrd3 T C 14: 87,477,463 probably null Het
Tm9sf4 T A 2: 153,187,656 V175D probably benign Het
Vmn1r201 T C 13: 22,474,922 L102P probably damaging Het
Wdfy4 T A 14: 33,078,343 N1788I possibly damaging Het
Xpc A C 6: 91,493,010 V744G probably damaging Het
Xrcc6 T C 15: 82,037,507 F178L probably damaging Het
Zfyve26 A G 12: 79,270,850 V1196A probably benign Het
Other mutations in Rftn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Rftn1 APN 17 50,055,377 (GRCm38) missense probably benign 0.01
IGL02318:Rftn1 APN 17 50,036,970 (GRCm38) missense possibly damaging 0.95
IGL02568:Rftn1 APN 17 50,036,999 (GRCm38) missense probably damaging 1.00
IGL02873:Rftn1 APN 17 50,169,152 (GRCm38) utr 5 prime probably benign
IGL02965:Rftn1 APN 17 50,055,252 (GRCm38) missense probably benign 0.32
BB001:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB003:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB004:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB005:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB011:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB013:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB014:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
BB015:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R0544:Rftn1 UTSW 17 49,994,261 (GRCm38) missense possibly damaging 0.71
R2219:Rftn1 UTSW 17 50,169,145 (GRCm38) start codon destroyed probably null 1.00
R4542:Rftn1 UTSW 17 50,055,231 (GRCm38) splice site probably null
R5605:Rftn1 UTSW 17 50,047,407 (GRCm38) missense probably damaging 1.00
R5700:Rftn1 UTSW 17 50,002,669 (GRCm38) missense probably damaging 1.00
R5853:Rftn1 UTSW 17 50,047,326 (GRCm38) missense probably damaging 1.00
R6459:Rftn1 UTSW 17 50,047,306 (GRCm38) missense probably benign 0.02
R6994:Rftn1 UTSW 17 50,036,991 (GRCm38) missense possibly damaging 0.82
R7210:Rftn1 UTSW 17 49,994,307 (GRCm38) nonsense probably null
R7283:Rftn1 UTSW 17 50,047,441 (GRCm38) missense probably damaging 1.00
R7348:Rftn1 UTSW 17 50,004,323 (GRCm38) missense probably damaging 1.00
R7444:Rftn1 UTSW 17 50,047,407 (GRCm38) missense probably damaging 1.00
R7684:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7685:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7686:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7881:Rftn1 UTSW 17 50,047,435 (GRCm38) missense probably benign 0.08
R7924:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7926:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7927:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7928:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R7943:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8052:Rftn1 UTSW 17 50,086,579 (GRCm38) missense probably damaging 0.98
R8162:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8164:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8248:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8249:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8250:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8271:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8272:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8273:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8296:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8297:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8300:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8315:Rftn1 UTSW 17 50,002,637 (GRCm38) missense possibly damaging 0.50
R8551:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8552:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8554:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8555:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8725:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8736:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R8739:Rftn1 UTSW 17 50,047,380 (GRCm38) missense probably damaging 1.00
R9526:Rftn1 UTSW 17 49,994,209 (GRCm38) missense probably benign 0.31
Z1176:Rftn1 UTSW 17 50,169,003 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGGGATTCGAGTGCCTAAG -3'
(R):5'- CACATGGAAGGTGTTAGCAGGC -3'

Sequencing Primer
(F):5'- GACCATTCTGCACAGCTGCTG -3'
(R):5'- CAGGCAGCAAGGGTGGG -3'
Posted On 2016-07-22