Mutagenetix > Incidental Mutations

Incidental Mutation 'R3877:Ckap5'

276885

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

4930432B04Rik, 3110043H24Rik, D730027C18Rik

MMRRC Submission

040904-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91526762-91620664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91615150 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1711 (K1711E)

Ref Sequence

ENSEMBL: ENSMUSP00000106969 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046769
AA Change: K1771E

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: K1771E

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: K1771E

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: K1771E

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

possibly damaging
Transcript: ENSMUST00000111337
AA Change: K1711E

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: K1711E

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: K1771E

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: K1771E

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

Meta Mutation Damage Score

0.0733

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,221,943	S1900P	probably benign	Het
Adam20	G	A	8: 40,796,634	V594I	possibly damaging	Het
Adgb	A	T	10: 10,442,483		probably null	Het
Adgrb3	A	C	1: 25,111,825	L1109R	probably damaging	Het
Angptl4	G	A	17: 33,777,034	P323S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,906	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,002,285	T1319A	probably damaging	Het
C4bp	A	G	1: 130,648,027		probably null	Het
Cd200r1	T	C	16: 44,790,011	S161P	possibly damaging	Het
Cldn19	T	C	4: 119,256,897	S79P	possibly damaging	Het
Dnah17	T	G	11: 118,024,707	N4334T	probably damaging	Het
Dpm2	G	A	2: 32,572,400		probably null	Het
Eef1a2	A	T	2: 181,152,833	V191E	probably damaging	Het
Gmds	G	A	13: 32,227,265	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,631	I168F	probably damaging	Het
Idh3a	T	C	9: 54,592,395	V31A	probably benign	Het
Inf2	C	A	12: 112,610,830	A1036E	unknown	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kidins220	T	A	12: 25,001,565		probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrp1b	A	G	2: 41,445,194	C779R	probably damaging	Het
Lrp2	A	G	2: 69,459,472		probably null	Het
Lrp2	G	A	2: 69,549,047	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,098,203	E184G	probably benign	Het
Mapre1	C	T	2: 153,746,281	T8M	possibly damaging	Het
Mms19	G	A	19: 41,966,256	Q75*	probably null	Het
Mtcl1	T	C	17: 66,342,954	I1390V	probably damaging	Het
Muc5b	A	G	7: 141,857,552	S1412G	unknown	Het
Myh4	A	T	11: 67,257,183	Q1686L	probably benign	Het
Olfr12	A	T	1: 92,620,083	D59V	probably damaging	Het
Olfr384	A	T	11: 73,603,153	D191V	probably damaging	Het
Rcvrn	A	T	11: 67,699,976	I129F	probably damaging	Het
Reg3b	T	A	6: 78,371,233	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,773,465	E918V	probably damaging	Het
Rpl5	A	G	5: 107,903,801	T154A	probably benign	Het
Sall4	A	C	2: 168,756,242	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,379,381	S199P	possibly damaging	Het
Shank1	G	T	7: 44,344,992	R859L	unknown	Het
Thsd7b	A	G	1: 130,190,182	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 52,052,327	E216G	probably benign	Het
Tram1	T	C	1: 13,569,603	T307A	probably benign	Het
Trpv5	A	G	6: 41,660,343	V354A	probably benign	Het
Tyro3	A	G	2: 119,813,293	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,527,481	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,488,358	W297R	probably damaging	Het
Vrk3	A	T	7: 44,763,036		probably null	Het
Zfhx4	T	C	3: 5,400,785	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,588,763		probably null	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
IGL02620:Ckap5	APN	2	91606369	missense	probably benign	0.01
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
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
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
X0010:Ckap5	UTSW	2	91596509	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CTATGGAGAATGGTTCGACTATTACC -3'
(R):5'- ATTCGAGAAGCTCCCTTTTCTG -3'

Sequencing Primer
(F):5'- GAATGGTTCGACTATTACCTGACACC -3'
(R):5'- AGACTTGCTCCCAGTCTGG -3'

Posted On

2015-04-06