Incidental Mutation 'R8248:Rftn1'
ID640402
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: 0.063) question?
Stock #R8248 (G1)
Quality Score221.999
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
Meta Mutation Damage Score 0.3897 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,883,806 D24G noncoding transcript Het
Adam32 A G 8: 24,901,470 S343P possibly damaging Het
Agbl2 G A 2: 90,797,564 G238R probably damaging Het
Ahi1 T A 10: 20,972,092 D466E probably benign Het
Ahnak T A 19: 9,001,946 V198E probably damaging Het
Ank2 T A 3: 126,937,785 H658L possibly damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,701,718 probably benign Het
Atp2b4 TCTTCT TCTTCTCCTTCT 1: 133,701,743 probably benign Het
Atp8b5 T A 4: 43,366,072 I781N probably damaging Het
Bloc1s6 A T 2: 122,742,645 R47* probably null Het
Clk2 G A 3: 89,173,504 V266M probably damaging Het
Cul9 A C 17: 46,530,014 Y777D probably damaging Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Dcp1a C T 14: 30,479,598 probably benign Het
Dnajb2 T G 1: 75,243,582 D248E Het
Dpy19l1 T C 9: 24,502,895 H79R probably benign Het
Elmo1 T C 13: 20,600,201 S643P probably damaging Het
Evi5 A G 5: 107,818,887 probably null Het
Fam76b T C 9: 13,831,102 C110R probably damaging Het
Galnt7 T A 8: 57,538,188 K429N probably benign Het
Gm10142 T A 10: 77,716,116 C104S probably damaging Het
Gm7298 A C 6: 121,787,443 H1427P probably benign Het
Golga7b A T 19: 42,266,871 I87F probably damaging Het
Gpr165 C A X: 96,714,017 D7E probably benign Het
Gpr25 C A 1: 136,260,677 R66L probably benign Het
H2-Q2 A G 17: 35,344,865 N241D probably benign Het
Il1a T C 2: 129,302,961 D179G probably benign Het
Itch T C 2: 155,206,383 probably null Het
Itsn2 T C 12: 4,662,052 V913A probably benign Het
Lama4 T C 10: 39,061,379 I655T possibly damaging Het
Lats1 T A 10: 7,705,903 S817R probably damaging Het
Lrrc8c A T 5: 105,607,867 M503L probably benign Het
Mast4 T C 13: 102,738,721 T1380A probably damaging Het
Mfap1a G T 2: 121,506,495 T16K possibly damaging Het
Mroh2b C T 15: 4,931,104 T773I probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Nudt7 A G 8: 114,151,997 Y255C probably benign Het
Pfas T C 11: 69,000,263 T310A probably damaging Het
Pkhd1l1 T G 15: 44,543,546 I2393R probably damaging Het
Pmm1 A C 15: 81,960,731 L24R possibly damaging Het
Pram1 T C 17: 33,641,164 V235A probably benign Het
Prg4 T C 1: 150,455,126 T599A unknown Het
Prpf40b A G 15: 99,316,285 K812E unknown Het
Qars G A 9: 108,509,452 A155T probably benign Het
Rom1 T A 19: 8,928,681 R165W probably damaging Het
Ryr1 A T 7: 29,069,121 W2808R probably damaging Het
Sh3gl1 A G 17: 56,019,038 probably null Het
Slc22a30 A T 19: 8,370,199 M279K probably benign Het
Snx11 A G 11: 96,769,933 S184P unknown Het
Srgap1 A G 10: 121,804,817 C692R probably damaging Het
Srgap3 T C 6: 112,723,143 N982S probably damaging Het
Stac T A 9: 111,593,745 D270V probably benign Het
Syn3 T A 10: 86,135,021 I246F probably benign Het
Tnr T C 1: 159,892,093 V980A probably damaging Het
Usp17le G T 7: 104,769,794 A47E possibly damaging Het
Vmn2r118 T C 17: 55,610,936 N192S probably benign Het
Zmym4 C A 4: 126,905,369 V725L possibly 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
BB001:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB003:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB004:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB005:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB011:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB013:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB014:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
BB015:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
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
R7684:Rftn1 UTSW 17 50047380 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
R7881:Rftn1 UTSW 17 50047435 missense probably benign 0.08
R7924:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R7926:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R7927:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R7928:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R7943:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8052:Rftn1 UTSW 17 50086579 missense probably damaging 0.98
R8162:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8164:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8249:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8250:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8271:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8272:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8273:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8296:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8297:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8300:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8315:Rftn1 UTSW 17 50002637 missense possibly damaging 0.50
Z1176:Rftn1 UTSW 17 50169003 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCCTTTGTGAGATCTGCCC -3'
(R):5'- CAAATTGGTTCTGTGGGCTAAC -3'

Sequencing Primer
(F):5'- TGAGATCTGCCCAAGCTATG -3'
(R):5'- AATTGGTTCTGTGGGCTAACCTCTC -3'
Posted On2020-07-28