Incidental Mutation 'IGL01129:Ckap2'
ID51803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckap2
Ensembl Gene ENSMUSG00000037725
Gene Namecytoskeleton associated protein 2
SynonymsLB1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01129
Quality Score
Status
Chromosome8
Chromosomal Location22168160-22185819 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22169758 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 569 (G569D)
Ref Sequence ENSEMBL: ENSMUSP00000039518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000046916] [ENSMUST00000110730]
Predicted Effect probably benign
Transcript: ENSMUST00000033865
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 444 8e-49 BLAST
low complexity region 471 485 N/A INTRINSIC
low complexity region 495 506 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000046916
AA Change: G569D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039518
Gene: ENSMUSG00000037725
AA Change: G569D

DomainStartEndE-ValueType
low complexity region 221 234 N/A INTRINSIC
Pfam:CKAP2_C 315 651 3.9e-168 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110730
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 446 1e-48 BLAST
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211629
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 67,920,604 F216L possibly damaging Het
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Creb3l2 A T 6: 37,353,634 probably benign Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Olfr6 T C 7: 106,956,427 N170D probably damaging Het
Pfn4 T A 12: 4,775,505 V114E probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Srd5a3 A G 5: 76,149,746 probably benign Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in Ckap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Ckap2 APN 8 22168898 missense probably benign 0.00
R0530:Ckap2 UTSW 8 22175972 splice site probably benign
R1638:Ckap2 UTSW 8 22175796 missense possibly damaging 0.84
R1965:Ckap2 UTSW 8 22175787 missense possibly damaging 0.95
R2047:Ckap2 UTSW 8 22168747 missense probably benign 0.03
R3023:Ckap2 UTSW 8 22175861 missense possibly damaging 0.95
R3843:Ckap2 UTSW 8 22175758 missense probably damaging 0.98
R4587:Ckap2 UTSW 8 22176976 missense probably benign
R4754:Ckap2 UTSW 8 22168895 missense possibly damaging 0.93
R4847:Ckap2 UTSW 8 22175068 missense probably damaging 0.98
R5354:Ckap2 UTSW 8 22177565 missense probably damaging 0.96
R5423:Ckap2 UTSW 8 22177196 missense probably benign 0.33
R5717:Ckap2 UTSW 8 22175047 missense probably damaging 0.98
R6518:Ckap2 UTSW 8 22173303 missense probably benign 0.41
R7088:Ckap2 UTSW 8 22169866 missense possibly damaging 0.59
R7466:Ckap2 UTSW 8 22177386 missense probably benign 0.02
R7943:Ckap2 UTSW 8 22175074 missense probably damaging 0.97
X0058:Ckap2 UTSW 8 22176798 missense probably benign
Z1176:Ckap2 UTSW 8 22169794 missense probably damaging 1.00
Posted On2013-06-21