Incidental Mutation 'IGL01691:Rftn2'
ID104117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rftn2
Ensembl Gene ENSMUSG00000025978
Gene Nameraftlin family member 2
Synonyms3222401M22Rik, 2700010E02Rik
Accession Numbers

Genbank: NM_028713.1; Ensembl: ENSMUST00000027121, ENSMUST00000114428

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01691
Quality Score
Status
Chromosome1
Chromosomal Location55170159-55226782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55214286 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 53 (V53I)
Ref Sequence ENSEMBL: ENSMUSP00000110071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027121] [ENSMUST00000114428] [ENSMUST00000132055]
Predicted Effect probably damaging
Transcript: ENSMUST00000027121
AA Change: V53I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027121
Gene: ENSMUSG00000025978
AA Change: V53I

DomainStartEndE-ValueType
Pfam:Raftlin 1 439 2e-180 PFAM
low complexity region 467 478 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114428
AA Change: V53I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110071
Gene: ENSMUSG00000025978
AA Change: V53I

DomainStartEndE-ValueType
Pfam:Raftlin 1 319 8.4e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132055
Meta Mutation Damage Score 0.286 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(12) : Targeted, other(2) Gene trapped(10)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a T A 3: 32,720,200 M282K possibly damaging Het
Adam22 T C 5: 8,092,742 N831S probably damaging Het
Adamdec1 C T 14: 68,573,107 R200Q probably damaging Het
Asb15 A G 6: 24,567,272 I531V probably benign Het
Btrc T A 19: 45,512,678 D223E probably benign Het
Ccdc30 T A 4: 119,393,564 E161V probably damaging Het
Cd38 G A 5: 43,903,586 probably benign Het
Clec2d T C 6: 129,184,222 F94S probably damaging Het
Cwf19l1 C T 19: 44,120,872 probably null Het
Dnah2 A T 11: 69,539,443 N96K probably benign Het
Ephb6 G A 6: 41,614,515 R202H probably benign Het
Gm43191 T A 3: 116,677,967 I218L probably benign Het
Gm7168 G A 17: 13,948,878 S169N probably damaging Het
Gm7964 T C 7: 83,756,136 noncoding transcript Het
Kif20b T C 19: 34,935,743 probably benign Het
Kmt2e A G 5: 23,497,091 T906A probably benign Het
Mboat2 A G 12: 24,954,222 N341D probably damaging Het
Msh6 T C 17: 87,985,479 V554A probably benign Het
Ndc80 T C 17: 71,508,639 T384A possibly damaging Het
Olfr1537 G A 9: 39,238,019 T135I probably benign Het
Olfr366 G T 2: 37,220,026 C179F probably damaging Het
Ptpn5 G T 7: 47,083,158 H312Q probably benign Het
Rgs20 T C 1: 4,916,922 T124A probably benign Het
Sox18 T C 2: 181,671,350 S58G possibly damaging Het
Togaram2 A G 17: 71,729,490 M1012V probably null Het
Usp48 A T 4: 137,623,272 probably null Het
Other mutations in Rftn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Rftn2 APN 1 55204285 missense probably damaging 1.00
IGL02412:Rftn2 APN 1 55206338 missense probably benign 0.01
IGL02458:Rftn2 APN 1 55211192 nonsense probably null
1mM(1):Rftn2 UTSW 1 55206595 missense possibly damaging 0.94
R0446:Rftn2 UTSW 1 55214195 missense probably damaging 0.99
R1167:Rftn2 UTSW 1 55204299 missense probably damaging 1.00
R1172:Rftn2 UTSW 1 55211217 missense probably damaging 0.99
R4171:Rftn2 UTSW 1 55214270 missense probably damaging 1.00
R4350:Rftn2 UTSW 1 55194281 missense probably damaging 1.00
R4487:Rftn2 UTSW 1 55202152 missense possibly damaging 0.74
R4833:Rftn2 UTSW 1 55214240 missense possibly damaging 0.56
R4863:Rftn2 UTSW 1 55172039 missense probably benign 0.01
R5719:Rftn2 UTSW 1 55214286 missense probably damaging 1.00
R6801:Rftn2 UTSW 1 55194259 missense possibly damaging 0.91
R6937:Rftn2 UTSW 1 55194349 critical splice acceptor site probably null
R6939:Rftn2 UTSW 1 55194349 critical splice acceptor site probably null
R7344:Rftn2 UTSW 1 55226152 nonsense probably null
R7401:Rftn2 UTSW 1 55194242 critical splice donor site probably null
X0022:Rftn2 UTSW 1 55214136 missense probably benign 0.05
Posted On2014-01-21