Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02620:Ckap5'

300824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

4930432B04Rik, 3110043H24Rik, D730027C18Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02620

Quality Score

Status

Chromosome

Chromosomal Location

91526762-91620664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91606369 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 1605 (L1605V)

Ref Sequence

ENSEMBL: ENSMUSP00000106970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046769] [ENSMUST00000099716] [ENSMUST00000111337] [ENSMUST00000111338]

Predicted Effect

probably benign
Transcript: ENSMUST00000046769
AA Change: L1605V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: L1605V

Domain	Start	End	E-Value	Type
TOG	1	227	9.27e-53	SMART
low complexity region	234	261	N/A	INTRINSIC
TOG	269	506	1.36e-77	SMART
low complexity region	537	551	N/A	INTRINSIC
TOG	586	818	1.29e-69	SMART
low complexity region	833	845	N/A	INTRINSIC
TOG	850	1082	3.27e-71	SMART
TOG	1191	1429	3.32e-63	SMART
low complexity region	1685	1698	N/A	INTRINSIC
low complexity region	1759	1771	N/A	INTRINSIC
low complexity region	1981	1994	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099716
AA Change: L1605V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: L1605V

Domain	Start	End	E-Value	Type
TOG	1	227	9.27e-53	SMART
low complexity region	234	261	N/A	INTRINSIC
TOG	269	506	1.36e-77	SMART
low complexity region	537	551	N/A	INTRINSIC
TOG	586	818	1.29e-69	SMART
low complexity region	833	845	N/A	INTRINSIC
TOG	850	1082	3.27e-71	SMART
TOG	1191	1429	3.32e-63	SMART
low complexity region	1685	1698	N/A	INTRINSIC
low complexity region	1759	1771	N/A	INTRINSIC
low complexity region	1909	1921	N/A	INTRINSIC
low complexity region	2002	2015	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111337

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549

Domain	Start	End	E-Value	Type
TOG	1	227	9.27e-53	SMART
low complexity region	234	261	N/A	INTRINSIC
TOG	269	506	1.36e-77	SMART
low complexity region	537	551	N/A	INTRINSIC
TOG	586	818	1.29e-69	SMART
low complexity region	833	845	N/A	INTRINSIC
TOG	850	1082	3.27e-71	SMART
TOG	1191	1429	3.32e-63	SMART
low complexity region	1625	1638	N/A	INTRINSIC
low complexity region	1699	1711	N/A	INTRINSIC
low complexity region	1849	1861	N/A	INTRINSIC
low complexity region	1942	1955	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111338
AA Change: L1605V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: L1605V

Domain	Start	End	E-Value	Type
TOG	1	227	9.27e-53	SMART
low complexity region	234	261	N/A	INTRINSIC
TOG	269	506	1.36e-77	SMART
low complexity region	537	551	N/A	INTRINSIC
TOG	586	818	1.29e-69	SMART
low complexity region	833	845	N/A	INTRINSIC
TOG	850	1082	3.27e-71	SMART
TOG	1191	1429	3.32e-63	SMART
low complexity region	1685	1698	N/A	INTRINSIC
low complexity region	1759	1771	N/A	INTRINSIC
low complexity region	1909	1921	N/A	INTRINSIC
low complexity region	2002	2015	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147809

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 which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit decreased body size and cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,211,625	V322I	probably benign	Het
4932438A13Rik	T	C	3: 37,035,945	V4174A	possibly damaging	Het
Abcc12	A	T	8: 86,505,314		probably null	Het
Ccdc150	T	A	1: 54,263,545	L108*	probably null	Het
Cdon	C	T	9: 35,452,799	T71I	probably benign	Het
Chdh	T	C	14: 30,031,139	W2R	probably damaging	Het
Cluh	C	T	11: 74,665,067	Q819*	probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cwc27	C	A	13: 104,802,206		probably benign	Het
Elk4	C	A	1: 132,018,371	A329D	probably benign	Het
Fbxo40	T	C	16: 36,966,080	H709R	probably benign	Het
Flna	A	G	X: 74,229,976		probably benign	Het
Gm20390	G	T	11: 93,952,856	R173S	possibly damaging	Het
Grip2	G	T	6: 91,778,606	D592E	possibly damaging	Het
H2-T24	T	G	17: 36,017,291	N100T	probably damaging	Het
Hepacam2	C	A	6: 3,487,280		probably benign	Het
Ighv2-2	T	A	12: 113,588,292	T109S	possibly damaging	Het
Ipo11	T	C	13: 106,876,281		probably null	Het
Kcnh8	T	C	17: 52,898,497	M540T	probably damaging	Het
Kifc3	A	G	8: 95,109,954	S82P	probably damaging	Het
Map4k5	T	C	12: 69,892,702	Y20C	probably benign	Het
Milr1	C	A	11: 106,754,918	S95R	probably damaging	Het
Mtnr1b	A	C	9: 15,874,321	V47G	possibly damaging	Het
Olfr2	T	A	7: 107,001,618	K81*	probably null	Het
Phactr2	T	C	10: 13,291,888	R100G	probably damaging	Het
Ppargc1b	A	G	18: 61,298,739	Y997H	probably damaging	Het
Pramel3	A	G	X: 135,310,409	M397V	probably benign	Het
Ptprz1	A	G	6: 22,959,740	K79E	probably damaging	Het
Rabgef1	T	C	5: 130,191,022	S109P	probably damaging	Het
Raf1	A	T	6: 115,632,887		probably benign	Het
Rptor	T	C	11: 119,780,587	L292P	probably benign	Het
Slc25a45	A	G	19: 5,884,526	D174G	probably damaging	Het
Tbcd	C	T	11: 121,461,255	T146M	probably damaging	Het
Zfp458	T	A	13: 67,257,994	H127L	probably damaging	Het

Other mutations in Ckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Ckap5	APN	2	91606256	missense	probably damaging	1.00
IGL00566:Ckap5	APN	2	91568627	splice site	probably benign
IGL00585:Ckap5	APN	2	91619825	missense	probably damaging	1.00
IGL00910:Ckap5	APN	2	91576050	missense	probably benign	0.32
IGL01309:Ckap5	APN	2	91570184	missense	probably damaging	0.99
IGL01411:Ckap5	APN	2	91601011	missense	probably benign	0.26
IGL01654:Ckap5	APN	2	91577609	missense	probably benign	0.26
IGL01684:Ckap5	APN	2	91555354	missense	probably benign	0.06
IGL02031:Ckap5	APN	2	91612772	missense	possibly damaging	0.85
IGL02057:Ckap5	APN	2	91600707	missense	possibly damaging	0.91
IGL02101:Ckap5	APN	2	91572540	splice site	probably benign
IGL02250:Ckap5	APN	2	91548901	missense	probably damaging	1.00
IGL02556:Ckap5	APN	2	91594841	splice site	probably benign
IGL02627:Ckap5	APN	2	91576021	missense	probably damaging	1.00
IGL02693:Ckap5	APN	2	91570211	missense	probably damaging	1.00
IGL02808:Ckap5	APN	2	91596514	missense	probably damaging	1.00
IGL03086:Ckap5	APN	2	91570276	splice site	probably benign
Elephantine	UTSW	2	91576269	missense	probably damaging	1.00
total	UTSW	2	91570252	missense	probably damaging	0.99
K7371:Ckap5	UTSW	2	91595523	splice site	probably benign
R0106:Ckap5	UTSW	2	91578205	missense	possibly damaging	0.90
R0106:Ckap5	UTSW	2	91615840	missense	probably damaging	1.00
R0114:Ckap5	UTSW	2	91620112	missense	possibly damaging	0.86
R0464:Ckap5	UTSW	2	91579513	missense	probably benign	0.00
R0633:Ckap5	UTSW	2	91550743	missense	probably damaging	0.96
R0723:Ckap5	UTSW	2	91555331	missense	probably damaging	0.99
R1037:Ckap5	UTSW	2	91550629	missense	probably benign	0.00
R1139:Ckap5	UTSW	2	91581143	missense	probably benign	0.11
R1161:Ckap5	UTSW	2	91599375	missense	probably null	1.00
R1183:Ckap5	UTSW	2	91586266	missense	probably benign	0.01
R1660:Ckap5	UTSW	2	91562958	missense	possibly damaging	0.92
R1850:Ckap5	UTSW	2	91595713	missense	probably damaging	1.00
R1951:Ckap5	UTSW	2	91556492	splice site	probably benign
R1968:Ckap5	UTSW	2	91586343	missense	probably benign	0.10
R2004:Ckap5	UTSW	2	91607546	missense	possibly damaging	0.91
R2143:Ckap5	UTSW	2	91565745	missense	probably benign	0.00
R2391:Ckap5	UTSW	2	91585869	missense	possibly damaging	0.66
R2435:Ckap5	UTSW	2	91581145	missense	probably benign	0.01
R2438:Ckap5	UTSW	2	91595408	missense	possibly damaging	0.95
R2680:Ckap5	UTSW	2	91588698	missense	probably benign
R2698:Ckap5	UTSW	2	91578081	missense	probably damaging	1.00
R3420:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R3422:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R3696:Ckap5	UTSW	2	91620166	missense	probably benign	0.15
R3698:Ckap5	UTSW	2	91620166	missense	probably benign	0.15
R3877:Ckap5	UTSW	2	91615150	missense	possibly damaging	0.69
R4453:Ckap5	UTSW	2	91548845	missense	probably damaging	1.00
R4604:Ckap5	UTSW	2	91578131	missense	probably benign	0.00
R4605:Ckap5	UTSW	2	91576214	missense	probably damaging	1.00
R4849:Ckap5	UTSW	2	91615271	missense	probably damaging	1.00
R5267:Ckap5	UTSW	2	91591752	missense	probably null	1.00
R5367:Ckap5	UTSW	2	91615141	missense	possibly damaging	0.69
R5481:Ckap5	UTSW	2	91572447	missense	possibly damaging	0.62
R5546:Ckap5	UTSW	2	91594816	missense	probably damaging	1.00
R5704:Ckap5	UTSW	2	91576203	missense	probably damaging	1.00
R5786:Ckap5	UTSW	2	91616296	splice site	probably null
R5793:Ckap5	UTSW	2	91619835	missense	possibly damaging	0.74
R5824:Ckap5	UTSW	2	91559136	missense	probably benign	0.34
R5841:Ckap5	UTSW	2	91600682	missense	probably benign	0.05
R5875:Ckap5	UTSW	2	91560861	missense	probably benign
R5935:Ckap5	UTSW	2	91615100	missense	possibly damaging	0.68
R6008:Ckap5	UTSW	2	91562989	missense	probably damaging	0.99
R6174:Ckap5	UTSW	2	91568219	missense	probably benign	0.00
R6343:Ckap5	UTSW	2	91596474	missense	possibly damaging	0.95
R6624:Ckap5	UTSW	2	91577651	missense	probably benign	0.01
R6786:Ckap5	UTSW	2	91557575	missense	probably benign	0.01
R6793:Ckap5	UTSW	2	91568709	missense	probably damaging	1.00
R6841:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R6972:Ckap5	UTSW	2	91606313	missense	probably damaging	0.98
R7044:Ckap5	UTSW	2	91577601	missense	probably benign
R7111:Ckap5	UTSW	2	91607572	missense	probably damaging	1.00
R7790:Ckap5	UTSW	2	91559110	missense	probably benign
R7809:Ckap5	UTSW	2	91606357	missense	probably benign	0.28
R7921:Ckap5	UTSW	2	91548940	missense	probably damaging	0.96
R8125:Ckap5	UTSW	2	91576269	missense	probably damaging	1.00
R8331:Ckap5	UTSW	2	91576200	missense	probably damaging	1.00
R8342:Ckap5	UTSW	2	91606362	missense	possibly damaging	0.67
R8511:Ckap5	UTSW	2	91615147	missense	possibly damaging	0.95
X0010:Ckap5	UTSW	2	91596509	missense	possibly damaging	0.61
Z1177:Ckap5	UTSW	2	91585798	missense	probably damaging	1.00

Posted On

2015-04-16