Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Ckap2'

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51803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ckap2

Ensembl Gene

ENSMUSG00000037725

Gene Name

cytoskeleton associated protein 2

Synonyms

LB1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

22168160-22185819 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22169758 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2013-06-21