Incidental Mutation 'IGL02282:Ik'
ID289864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ik
Ensembl Gene ENSMUSG00000024474
Gene NameIK cytokine
SynonymsMuRED
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL02282
Quality Score
Status
Chromosome18
Chromosomal Location36744656-36757639 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36745644 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 17 (G17D)
Ref Sequence ENSEMBL: ENSMUSP00000007042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007042] [ENSMUST00000007046] [ENSMUST00000014438]
Predicted Effect probably damaging
Transcript: ENSMUST00000007042
AA Change: G17D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474
AA Change: G17D

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:RED_N 76 302 1.6e-105 PFAM
low complexity region 334 380 N/A INTRINSIC
Pfam:RED_C 445 554 1.1e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000007046
SMART Domains Protein: ENSMUSP00000007046
Gene: ENSMUSG00000006850

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
SCOP:d1jdha_ 72 485 2e-10 SMART
Blast:ARM 96 178 3e-22 BLAST
Blast:ARM 180 220 1e-17 BLAST
Blast:ARM 225 268 7e-19 BLAST
Blast:ARM 269 320 4e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000014438
SMART Domains Protein: ENSMUSP00000014438
Gene: ENSMUSG00000014294

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
L51_S25_CI-B8 25 98 1.74e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224284
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik C T 11: 78,284,228 P1730S probably benign Het
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Fgf8 T C 19: 45,737,090 H201R possibly damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Il4 G A 11: 53,618,174 T59M probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Robo1 G A 16: 72,742,138 R41H probably damaging Het
Rps3 A G 7: 99,479,272 probably null Het
Ruvbl2 G A 7: 45,425,165 T183I probably benign Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in Ik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Ik APN 18 36756868 nonsense probably null
IGL01409:Ik APN 18 36756921 missense probably damaging 1.00
IGL01636:Ik APN 18 36751201 missense possibly damaging 0.63
IGL02422:Ik APN 18 36753260 critical splice acceptor site probably null
IGL03263:Ik APN 18 36748646 missense probably damaging 0.98
IGL03356:Ik APN 18 36756604 missense probably damaging 1.00
R0675:Ik UTSW 18 36747333 unclassified probably benign
R1778:Ik UTSW 18 36756818 unclassified probably benign
R4060:Ik UTSW 18 36748890 missense probably damaging 0.96
R4606:Ik UTSW 18 36753555 missense possibly damaging 0.68
R4684:Ik UTSW 18 36752414 missense probably damaging 1.00
R4819:Ik UTSW 18 36753257 splice site probably null
R4978:Ik UTSW 18 36747415 missense possibly damaging 0.54
R5256:Ik UTSW 18 36748873 missense probably benign 0.00
R5751:Ik UTSW 18 36753513 missense probably benign 0.07
R5966:Ik UTSW 18 36755478 missense possibly damaging 0.50
R6378:Ik UTSW 18 36757288 missense probably damaging 1.00
R6952:Ik UTSW 18 36753560 missense probably damaging 1.00
R7068:Ik UTSW 18 36755465 missense possibly damaging 0.57
R7143:Ik UTSW 18 36751177 missense probably damaging 1.00
R7242:Ik UTSW 18 36748222 missense probably null 1.00
Z1088:Ik UTSW 18 36744782 nonsense probably null
Posted On2015-04-16