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
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5700 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 50300287-50497525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 50309697 bp (GRCm39)
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: 43,786,633 (GRCm39) Q155L probably benign Het
Acadvl A C 11: 69,904,029 (GRCm39) Y242D probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Barx2 A T 9: 31,770,061 (GRCm39) F156I probably damaging Het
Best1 T C 19: 9,974,563 (GRCm39) probably benign Het
Btbd8 T C 5: 107,651,514 (GRCm39) S136P possibly damaging Het
Btla T A 16: 45,070,936 (GRCm39) Y298* probably null Het
Casr T A 16: 36,329,979 (GRCm39) I452F probably damaging Het
Ccser1 C A 6: 61,288,260 (GRCm39) P141H probably benign Het
Cr2 A G 1: 194,842,065 (GRCm39) V296A probably damaging Het
Csl T A 10: 99,594,877 (GRCm39) I63F probably damaging Het
Dbt G A 3: 116,313,952 (GRCm39) V40M probably damaging Het
Fam53b A T 7: 132,361,749 (GRCm39) L93Q probably damaging Het
Fdps T C 3: 89,002,956 (GRCm39) I105V probably damaging Het
Gm4884 A G 7: 40,692,643 (GRCm39) D204G probably benign Het
Gm5592 A G 7: 40,808,003 (GRCm39) probably benign Het
Gm7367 A T 7: 59,805,510 (GRCm39) noncoding transcript Het
Grid2 T A 6: 64,071,416 (GRCm39) V413D possibly damaging Het
Hgf C T 5: 16,815,122 (GRCm39) P471L probably damaging Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Hs6st3 C T 14: 119,376,199 (GRCm39) R125* probably null Het
Kdm4b T C 17: 56,658,700 (GRCm39) I15T possibly damaging Het
Klhl1 T C 14: 96,755,476 (GRCm39) N93S probably benign Het
Klhl6 G A 16: 19,775,968 (GRCm39) Q197* probably null Het
Medag T C 5: 149,345,682 (GRCm39) V7A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Nckap5 C T 1: 125,904,662 (GRCm39) probably null Het
Obscn T C 11: 59,024,020 (GRCm39) K550R probably benign Het
Or2d36 A G 7: 106,746,748 (GRCm39) N75S probably benign Het
Or2w1b T A 13: 21,300,171 (GRCm39) V103E probably damaging Het
Or5h25 T A 16: 58,930,356 (GRCm39) I206F probably damaging Het
Or7a42 T C 10: 78,791,318 (GRCm39) I93T probably damaging Het
Parp6 T C 9: 59,532,010 (GRCm39) S101P probably damaging Het
Plcd3 T C 11: 102,964,589 (GRCm39) N594S probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ppp2r1b T C 9: 50,789,457 (GRCm39) Y443H probably damaging Het
Prnd G A 2: 131,795,263 (GRCm39) V128I probably benign Het
Scmh1 T C 4: 120,374,143 (GRCm39) V445A probably benign Het
Serpinb6c A T 13: 34,083,291 (GRCm39) M41K probably damaging Het
Slc66a1 C T 4: 139,027,565 (GRCm39) S259N probably damaging Het
Spns1 A G 7: 125,971,641 (GRCm39) V303A possibly damaging Het
Ston1 T A 17: 88,951,767 (GRCm39) S639R probably damaging Het
Thbs4 T C 13: 92,913,461 (GRCm39) D153G probably benign Het
Timm44 T C 8: 4,324,171 (GRCm39) Y36C probably damaging Het
Trim34b G T 7: 103,985,618 (GRCm39) V418F probably damaging Het
Vmn1r72 C T 7: 11,404,350 (GRCm39) V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 (GRCm39) V412A probably benign Het
Zfand1 T A 3: 10,406,079 (GRCm39) N210I probably damaging Het
Zfhx3 A G 8: 109,660,499 (GRCm39) H1251R 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
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
R9526:Rftn1 UTSW 17 50,301,237 (GRCm39) missense probably benign 0.31
Z1176:Rftn1 UTSW 17 50,476,031 (GRCm39) 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