Incidental Mutation 'R5700:Rftn1'
ID 450871
Institutional Source Beutler Lab
Gene Symbol Rftn1
Ensembl Gene ENSMUSG00000039316
Gene Name raftlin lipid raft linker 1
Synonyms 2310015N21Rik
MMRRC Submission 043328-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5700 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 49992257-50190674 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50002669 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 156 (P156Q)
Ref Sequence ENSEMBL: ENSMUSP00000108820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044503] [ENSMUST00000113195]
AlphaFold Q6A0D4
Predicted Effect probably damaging
Transcript: ENSMUST00000044503
AA Change: P434Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: P434Q

DomainStartEndE-ValueType
Pfam:Raftlin 1 473 1.3e-219 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113195
AA Change: P156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316
AA Change: P156Q

DomainStartEndE-ValueType
Pfam:Raftlin 1 207 1.5e-104 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,798,194 Q155L probably benign Het
Acadvl A C 11: 70,013,203 Y242D probably damaging Het
Armc8 A G 9: 99,496,149 probably null Het
Barx2 A T 9: 31,858,765 F156I probably damaging Het
Best1 T C 19: 9,997,199 probably benign Het
Btbd8 T C 5: 107,503,648 S136P possibly damaging Het
Btla T A 16: 45,250,573 Y298* probably null Het
Casr T A 16: 36,509,617 I452F probably damaging Het
Ccser1 C A 6: 61,311,276 P141H probably benign Het
Cr2 A G 1: 195,159,757 V296A probably damaging Het
Csl T A 10: 99,759,015 I63F probably damaging Het
Dbt G A 3: 116,520,303 V40M probably damaging Het
Fam53b A T 7: 132,760,020 L93Q probably damaging Het
Fdps T C 3: 89,095,649 I105V probably damaging Het
Gm4884 A G 7: 41,043,219 D204G probably benign Het
Gm5592 A G 7: 41,158,579 probably benign Het
Gm7367 A T 7: 60,155,762 noncoding transcript Het
Grid2 T A 6: 64,094,432 V413D possibly damaging Het
Hgf C T 5: 16,610,124 P471L probably damaging Het
Hoxc9 T C 15: 102,981,881 Y77H possibly damaging Het
Hs6st3 C T 14: 119,138,787 R125* probably null Het
Kdm4b T C 17: 56,351,700 I15T possibly damaging Het
Klhl1 T C 14: 96,518,040 N93S probably benign Het
Klhl6 G A 16: 19,957,218 Q197* probably null Het
Medag T C 5: 149,422,217 V7A probably benign Het
Mptx2 G A 1: 173,274,847 L92F probably benign Het
Nckap5 C T 1: 125,976,925 probably null Het
Obscn T C 11: 59,133,194 K550R probably benign Het
Olfr1369-ps1 T A 13: 21,116,001 V103E probably damaging Het
Olfr193 T A 16: 59,109,993 I206F probably damaging Het
Olfr716 A G 7: 107,147,541 N75S probably benign Het
Olfr8 T C 10: 78,955,484 I93T probably damaging Het
Parp6 T C 9: 59,624,727 S101P probably damaging Het
Plcd3 T C 11: 103,073,763 N594S probably benign Het
Plscr5 A T 9: 92,205,511 K178* probably null Het
Ppp2r1b T C 9: 50,878,157 Y443H probably damaging Het
Pqlc2 C T 4: 139,300,254 S259N probably damaging Het
Prnd G A 2: 131,953,343 V128I probably benign Het
Scmh1 T C 4: 120,516,946 V445A probably benign Het
Serpinb6c A T 13: 33,899,308 M41K probably damaging Het
Spns1 A G 7: 126,372,469 V303A possibly damaging Het
Ston1 T A 17: 88,644,339 S639R probably damaging Het
Thbs4 T C 13: 92,776,953 D153G probably benign Het
Timm44 T C 8: 4,274,171 Y36C probably damaging Het
Trim34b G T 7: 104,336,411 V418F probably damaging Het
Vmn1r72 C T 7: 11,670,423 V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 V412A probably benign Het
Zfand1 T A 3: 10,341,019 N210I probably damaging Het
Zfhx3 A G 8: 108,933,867 H1251R 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
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
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
R8248: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
R8551:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8552:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8554:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8555:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8725:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8736:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
R8739:Rftn1 UTSW 17 50047380 missense probably damaging 1.00
Z1176:Rftn1 UTSW 17 50169003 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTATGACCCAATGTGGACC -3'
(R):5'- CAGTCTTAAGTCAGGCAGCAGC -3'

Sequencing Primer
(F):5'- CAATGTGGACCCAGGTCTTCATTG -3'
(R):5'- GCAGCCTTCCTTTACTTATAGGAAG -3'
Posted On 2017-01-03