Incidental Mutation 'R7684:Rftn1'
ID592971
Institutional Source Beutler Lab
Gene Symbol Rftn1
Ensembl Gene ENSMUSG00000039316
Gene Nameraftlin lipid raft linker 1
Synonyms2310015N21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #R7684 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location49992257-50190674 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 50047380 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 318 (A318D)
Ref Sequence ENSEMBL: ENSMUSP00000046524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044503] [ENSMUST00000113195]
Predicted Effect probably damaging
Transcript: ENSMUST00000044503
AA Change: A318D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: A318D

DomainStartEndE-ValueType
Pfam:Raftlin 1 473 1.3e-219 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113195
AA Change: A40D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: A40D

DomainStartEndE-ValueType
Pfam:Raftlin 1 207 1.5e-104 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,612,540 K1239* probably null Het
Abhd6 T C 14: 8,039,807 F60S probably damaging Het
Adam6b G A 12: 113,491,576 W671* probably null Het
Ankrd36 A G 11: 5,570,113 T63A possibly damaging Het
Arhgef16 A G 4: 154,281,828 V494A possibly damaging Het
Arhgef7 T A 8: 11,819,663 M659K probably benign Het
Cacna1h A G 17: 25,389,372 Y854H probably damaging Het
Chd3 A T 11: 69,357,866 F780I possibly damaging Het
Cldn8 A G 16: 88,562,447 Y197H probably damaging Het
Cpne8 A T 15: 90,649,247 D58E probably damaging Het
Cul9 T G 17: 46,509,889 Y1954S probably damaging Het
Cyp4a10 T A 4: 115,518,352 F11I probably benign Het
Cysrt1 A T 2: 25,239,082 C139* probably null Het
Dnajc16 A G 4: 141,774,568 V317A probably benign Het
Dnmt3a T C 12: 3,897,340 V437A probably benign Het
Dok5 T C 2: 170,841,424 C202R probably damaging Het
Dusp11 T A 6: 85,950,560 R164S probably damaging Het
Dysf T C 6: 84,100,135 S648P probably benign Het
Egfem1 A T 3: 29,690,185 R581S probably damaging Het
Enpep A G 3: 129,321,445 F226S probably damaging Het
Ep400 A G 5: 110,697,352 I1541T unknown Het
Exd1 A G 2: 119,520,203 S526P probably damaging Het
Fam118a A G 15: 85,058,781 E337G possibly damaging Het
Fam20b T C 1: 156,690,645 N193S probably benign Het
Fat3 A G 9: 15,988,268 probably null Het
Flg2 T C 3: 93,219,649 V1956A unknown Het
Fzd10 A G 5: 128,601,416 I67V possibly damaging Het
Gckr A T 5: 31,307,797 D370V probably damaging Het
Gm8797 A T 3: 5,751,088 Q62L probably benign Het
H6pd G T 4: 149,996,062 Q109K probably benign Het
Higd1a T C 9: 121,850,256 K55R possibly damaging Het
Il1b C T 2: 129,367,357 V118I probably benign Het
Insr T C 8: 3,169,753 N923S possibly damaging Het
Krit1 A G 5: 3,830,723 I561V possibly damaging Het
Lamc2 T C 1: 153,127,025 D1070G probably null Het
Lpcat2 T A 8: 92,909,195 D408E possibly damaging Het
Mst1r T A 9: 107,911,563 F427Y probably benign Het
Mtx1 A T 3: 89,210,432 I258K possibly damaging Het
Nckap5 T C 1: 126,026,857 T653A probably benign Het
Npas3 A T 12: 54,068,826 N844Y probably damaging Het
Nrg3 A T 14: 39,472,565 L79Q probably damaging Het
Nsmce1 C A 7: 125,471,176 K154N probably damaging Het
Oard1 T C 17: 48,416,698 L124P probably damaging Het
Olfr1122 T C 2: 87,388,028 S108P probably damaging Het
Olfr1337 T C 4: 118,782,274 M104V probably benign Het
Olfr615 T C 7: 103,561,218 F247S probably benign Het
Olfr642 G A 7: 104,049,460 T298I probably damaging Het
Ovgp1 A T 3: 105,979,956 T223S probably damaging Het
Pik3c2a A T 7: 116,388,077 Y536* probably null Het
Rxfp1 T A 3: 79,670,907 N159I possibly damaging Het
Sfmbt1 A G 14: 30,810,354 Q557R probably damaging Het
Slc22a18 G T 7: 143,490,840 V177L probably benign Het
Slc22a8 A G 19: 8,609,930 I451M probably benign Het
Slc39a12 T C 2: 14,449,859 S563P probably damaging Het
Snx20 T C 8: 88,627,235 D289G probably benign Het
Sptb A G 12: 76,612,195 Y1189H probably benign Het
Tbc1d1 T A 5: 64,316,486 M784K probably benign Het
Tfap2b G C 1: 19,214,287 D140H probably damaging Het
Thy1 G A 9: 44,046,558 G13D unknown Het
Ticam1 A G 17: 56,269,984 S704P unknown Het
Tmem151b A G 17: 45,547,003 Y106H probably damaging Het
Trappc8 T C 18: 20,863,502 N452S probably benign Het
Ttc9c A G 19: 8,811,764 Y166H probably damaging Het
Txndc16 A G 14: 45,147,868 V556A possibly damaging Het
Tyrp1 C A 4: 80,840,625 S245Y probably damaging Het
Urb1 A T 16: 90,786,118 L621* probably null Het
Wdr72 A T 9: 74,147,010 T224S probably damaging Het
Zc3h18 T G 8: 122,407,426 S544A unknown Het
Zfp462 T A 4: 55,008,908 N291K probably benign Het
Zfp609 T C 9: 65,731,080 N290S possibly damaging Het
Zfp979 A T 4: 147,613,342 H303Q probably damaging Het
Other mutations in Rftn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Rftn1 APN 17 50055377 missense probably benign 0.01
IGL02318:Rftn1 APN 17 50036970 missense possibly damaging 0.95
IGL02568:Rftn1 APN 17 50036999 missense probably damaging 1.00
IGL02873:Rftn1 APN 17 50169152 utr 5 prime probably benign
IGL02965:Rftn1 APN 17 50055252 missense probably benign 0.32
R0544:Rftn1 UTSW 17 49994261 missense possibly damaging 0.71
R2219:Rftn1 UTSW 17 50169145 start codon destroyed probably null 1.00
R4542:Rftn1 UTSW 17 50055231 splice site probably null
R5318:Rftn1 UTSW 17 49994458 missense probably benign 0.09
R5605:Rftn1 UTSW 17 50047407 missense probably damaging 1.00
R5700:Rftn1 UTSW 17 50002669 missense probably damaging 1.00
R5853:Rftn1 UTSW 17 50047326 missense probably damaging 1.00
R6459:Rftn1 UTSW 17 50047306 missense probably benign 0.02
R6994:Rftn1 UTSW 17 50036991 missense possibly damaging 0.82
R7210:Rftn1 UTSW 17 49994307 nonsense probably null
R7283:Rftn1 UTSW 17 50047441 missense probably damaging 1.00
R7348:Rftn1 UTSW 17 50004323 missense probably damaging 1.00
R7444:Rftn1 UTSW 17 50047407 missense probably damaging 1.00
R7685:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R7686:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCTTTGTGAGATCTGCC -3'
(R):5'- AAATTGGTTCTGTGGGCTAACC -3'

Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- GGTTCTGTGGGCTAACCTCTCTC -3'
Posted On2019-11-12