Incidental Mutation 'IGL00552:Rftn1'
ID13808
Institutional Source Australian Phenomics Network (link to record)
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: 0.087) question?
Stock #IGL00552
Quality Score
Status
Chromosome17
Chromosomal Location49992257-50190674 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 50055377 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 231 (V231E)
Ref Sequence ENSEMBL: ENSMUSP00000046524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044503] [ENSMUST00000113195]
Predicted Effect probably benign
Transcript: ENSMUST00000044503
AA Change: V231E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000046524
Gene: ENSMUSG00000039316
AA Change: V231E

DomainStartEndE-ValueType
Pfam:Raftlin 1 473 1.3e-219 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113195
SMART Domains Protein: ENSMUSP00000108820
Gene: ENSMUSG00000039316

DomainStartEndE-ValueType
Pfam:Raftlin 1 207 1.5e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156094
Coding Region Coverage
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camta1 A T 4: 151,071,424 probably null Het
Celsr3 A T 9: 108,841,263 N2338Y possibly damaging Het
Dnm3 A G 1: 162,011,926 V683A probably damaging Het
Gm11565 T C 11: 99,915,076 L98P probably damaging Het
Il21r A T 7: 125,632,525 D375V probably damaging Het
Oxct2b A G 4: 123,117,508 D407G probably damaging Het
Ppp1r3a A G 6: 14,755,084 Y55H probably damaging Het
Serpini1 C T 3: 75,640,695 R393* probably null Het
Sumo3 T A 10: 77,614,026 I66N probably damaging Het
Ubr1 T C 2: 120,875,407 H1525R possibly damaging Het
Washc2 A G 6: 116,256,824 N937S possibly damaging Het
Wdr20 A T 12: 110,779,449 K75* probably null Het
Zscan20 G T 4: 128,586,635 Q688K probably damaging Het
Other mutations in Rftn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7964:Rftn1 UTSW 17 50047435 missense probably benign 0.08
R8052:Rftn1 UTSW 17 50086579 missense probably damaging 0.98
Z1176:Rftn1 UTSW 17 50169003 missense probably damaging 1.00
Posted On2012-12-06