Mutagenetix > Incidental Mutation

Incidental Mutation 'R3698:Ckap5'

269879

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

D730027C18Rik, 4930432B04Rik, 3110043H24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91357107-91451009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91450511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 2014 (T2014K)

Ref Sequence

ENSEMBL: ENSMUSP00000106970 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046769
AA Change: T1993K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: T1993K

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: T2014K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: T2014K

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
AA Change: T1954K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: T1954K

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: T2014K

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: T2014K

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

0.1157

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	C	A	19: 56,904,955 (GRCm39)	S549I	possibly damaging	Het
Aldh4a1	A	G	4: 139,369,562 (GRCm39)	H371R	possibly damaging	Het
Arpc1a	G	T	5: 145,033,001 (GRCm39)	K103N	probably damaging	Het
Btg3	A	G	16: 78,161,722 (GRCm39)	S136P	probably benign	Het
Dennd10	A	G	19: 60,821,054 (GRCm39)		probably null	Het
Emc1	T	G	4: 139,092,697 (GRCm39)	S546A	possibly damaging	Het
G3bp2	T	C	5: 92,204,139 (GRCm39)	E316G	possibly damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Il6st	T	G	13: 112,640,916 (GRCm39)	D897E	probably benign	Het
Ipo13	A	G	4: 117,757,890 (GRCm39)	L767P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl13	G	A	X: 23,114,422 (GRCm39)	T94I	probably benign	Het
Morc2a	A	T	11: 3,629,672 (GRCm39)	K364*	probably null	Het
Nat8f2	T	A	6: 85,844,778 (GRCm39)	T195S	probably benign	Het
Nckipsd	G	A	9: 108,688,320 (GRCm39)	G83S	probably damaging	Het
Nfu1	A	G	6: 86,992,634 (GRCm39)	T83A	probably damaging	Het
Nid1	G	A	13: 13,661,344 (GRCm39)	C748Y	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Or5w15	T	C	2: 87,568,360 (GRCm39)	T103A	probably benign	Het
Rgs22	C	T	15: 36,100,038 (GRCm39)	V226I	probably benign	Het
Slc13a4	T	A	6: 35,251,892 (GRCm39)	I467F	probably benign	Het
Stat2	T	A	10: 128,114,662 (GRCm39)	L253Q	probably benign	Het
Tnxb	G	T	17: 34,909,407 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,564,595 (GRCm39)	R28514H	probably damaging	Het
Usp15	T	C	10: 123,017,643 (GRCm39)	D51G	probably damaging	Het
Uvrag	T	C	7: 98,589,150 (GRCm39)	E417G	probably damaging	Het

Other mutations in Ckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Ckap5	APN	2	91,436,601 (GRCm39)	missense	probably damaging	1.00
IGL00566:Ckap5	APN	2	91,398,972 (GRCm39)	splice site	probably benign
IGL00585:Ckap5	APN	2	91,450,170 (GRCm39)	missense	probably damaging	1.00
IGL00910:Ckap5	APN	2	91,406,395 (GRCm39)	missense	probably benign	0.32
IGL01309:Ckap5	APN	2	91,400,529 (GRCm39)	missense	probably damaging	0.99
IGL01411:Ckap5	APN	2	91,431,356 (GRCm39)	missense	probably benign	0.26
IGL01654:Ckap5	APN	2	91,407,954 (GRCm39)	missense	probably benign	0.26
IGL01684:Ckap5	APN	2	91,385,699 (GRCm39)	missense	probably benign	0.06
IGL02031:Ckap5	APN	2	91,443,117 (GRCm39)	missense	possibly damaging	0.85
IGL02057:Ckap5	APN	2	91,431,052 (GRCm39)	missense	possibly damaging	0.91
IGL02101:Ckap5	APN	2	91,402,885 (GRCm39)	splice site	probably benign
IGL02250:Ckap5	APN	2	91,379,246 (GRCm39)	missense	probably damaging	1.00
IGL02556:Ckap5	APN	2	91,425,186 (GRCm39)	splice site	probably benign
IGL02620:Ckap5	APN	2	91,436,714 (GRCm39)	missense	probably benign	0.01
IGL02627:Ckap5	APN	2	91,406,366 (GRCm39)	missense	probably damaging	1.00
IGL02693:Ckap5	APN	2	91,400,556 (GRCm39)	missense	probably damaging	1.00
IGL02808:Ckap5	APN	2	91,426,859 (GRCm39)	missense	probably damaging	1.00
IGL03086:Ckap5	APN	2	91,400,621 (GRCm39)	splice site	probably benign
Elephantine	UTSW	2	91,406,614 (GRCm39)	missense	probably damaging	1.00
hardiness	UTSW	2	91,445,445 (GRCm39)	missense	possibly damaging	0.68
total	UTSW	2	91,400,597 (GRCm39)	missense	probably damaging	0.99
K7371:Ckap5	UTSW	2	91,425,868 (GRCm39)	splice site	probably benign
R0106:Ckap5	UTSW	2	91,446,185 (GRCm39)	missense	probably damaging	1.00
R0106:Ckap5	UTSW	2	91,408,550 (GRCm39)	missense	possibly damaging	0.90
R0114:Ckap5	UTSW	2	91,450,457 (GRCm39)	missense	possibly damaging	0.86
R0464:Ckap5	UTSW	2	91,409,858 (GRCm39)	missense	probably benign	0.00
R0633:Ckap5	UTSW	2	91,381,088 (GRCm39)	missense	probably damaging	0.96
R0723:Ckap5	UTSW	2	91,385,676 (GRCm39)	missense	probably damaging	0.99
R1037:Ckap5	UTSW	2	91,380,974 (GRCm39)	missense	probably benign	0.00
R1139:Ckap5	UTSW	2	91,411,488 (GRCm39)	missense	probably benign	0.11
R1161:Ckap5	UTSW	2	91,429,720 (GRCm39)	missense	probably null	1.00
R1183:Ckap5	UTSW	2	91,416,611 (GRCm39)	missense	probably benign	0.01
R1660:Ckap5	UTSW	2	91,393,303 (GRCm39)	missense	possibly damaging	0.92
R1850:Ckap5	UTSW	2	91,426,058 (GRCm39)	missense	probably damaging	1.00
R1951:Ckap5	UTSW	2	91,386,837 (GRCm39)	splice site	probably benign
R1968:Ckap5	UTSW	2	91,416,688 (GRCm39)	missense	probably benign	0.10
R2004:Ckap5	UTSW	2	91,437,891 (GRCm39)	missense	possibly damaging	0.91
R2143:Ckap5	UTSW	2	91,396,090 (GRCm39)	missense	probably benign	0.00
R2391:Ckap5	UTSW	2	91,416,214 (GRCm39)	missense	possibly damaging	0.66
R2435:Ckap5	UTSW	2	91,411,490 (GRCm39)	missense	probably benign	0.01
R2438:Ckap5	UTSW	2	91,425,753 (GRCm39)	missense	possibly damaging	0.95
R2680:Ckap5	UTSW	2	91,419,043 (GRCm39)	missense	probably benign
R2698:Ckap5	UTSW	2	91,408,426 (GRCm39)	missense	probably damaging	1.00
R3420:Ckap5	UTSW	2	91,400,597 (GRCm39)	missense	probably damaging	0.99
R3422:Ckap5	UTSW	2	91,400,597 (GRCm39)	missense	probably damaging	0.99
R3696:Ckap5	UTSW	2	91,450,511 (GRCm39)	missense	probably benign	0.15
R3877:Ckap5	UTSW	2	91,445,495 (GRCm39)	missense	possibly damaging	0.69
R4453:Ckap5	UTSW	2	91,379,190 (GRCm39)	missense	probably damaging	1.00
R4604:Ckap5	UTSW	2	91,408,476 (GRCm39)	missense	probably benign	0.00
R4605:Ckap5	UTSW	2	91,406,559 (GRCm39)	missense	probably damaging	1.00
R4849:Ckap5	UTSW	2	91,445,616 (GRCm39)	missense	probably damaging	1.00
R5267:Ckap5	UTSW	2	91,422,097 (GRCm39)	missense	probably null	1.00
R5367:Ckap5	UTSW	2	91,445,486 (GRCm39)	missense	possibly damaging	0.69
R5481:Ckap5	UTSW	2	91,402,792 (GRCm39)	missense	possibly damaging	0.62
R5546:Ckap5	UTSW	2	91,425,161 (GRCm39)	missense	probably damaging	1.00
R5704:Ckap5	UTSW	2	91,406,548 (GRCm39)	missense	probably damaging	1.00
R5786:Ckap5	UTSW	2	91,446,641 (GRCm39)	splice site	probably null
R5793:Ckap5	UTSW	2	91,450,180 (GRCm39)	missense	possibly damaging	0.74
R5824:Ckap5	UTSW	2	91,389,481 (GRCm39)	missense	probably benign	0.34
R5841:Ckap5	UTSW	2	91,431,027 (GRCm39)	missense	probably benign	0.05
R5875:Ckap5	UTSW	2	91,391,206 (GRCm39)	missense	probably benign
R5935:Ckap5	UTSW	2	91,445,445 (GRCm39)	missense	possibly damaging	0.68
R6008:Ckap5	UTSW	2	91,393,334 (GRCm39)	missense	probably damaging	0.99
R6174:Ckap5	UTSW	2	91,398,564 (GRCm39)	missense	probably benign	0.00
R6343:Ckap5	UTSW	2	91,426,819 (GRCm39)	missense	possibly damaging	0.95
R6624:Ckap5	UTSW	2	91,407,996 (GRCm39)	missense	probably benign	0.01
R6786:Ckap5	UTSW	2	91,387,920 (GRCm39)	missense	probably benign	0.01
R6793:Ckap5	UTSW	2	91,399,054 (GRCm39)	missense	probably damaging	1.00
R6841:Ckap5	UTSW	2	91,400,597 (GRCm39)	missense	probably damaging	0.99
R6972:Ckap5	UTSW	2	91,436,658 (GRCm39)	missense	probably damaging	0.98
R7044:Ckap5	UTSW	2	91,407,946 (GRCm39)	missense	probably benign
R7111:Ckap5	UTSW	2	91,437,917 (GRCm39)	missense	probably damaging	1.00
R7790:Ckap5	UTSW	2	91,389,455 (GRCm39)	missense	probably benign
R7809:Ckap5	UTSW	2	91,436,702 (GRCm39)	missense	probably benign	0.28
R7921:Ckap5	UTSW	2	91,379,285 (GRCm39)	missense	probably damaging	0.96
R8125:Ckap5	UTSW	2	91,406,614 (GRCm39)	missense	probably damaging	1.00
R8331:Ckap5	UTSW	2	91,406,545 (GRCm39)	missense	probably damaging	1.00
R8342:Ckap5	UTSW	2	91,436,707 (GRCm39)	missense	possibly damaging	0.67
R8511:Ckap5	UTSW	2	91,445,492 (GRCm39)	missense	possibly damaging	0.95
R8708:Ckap5	UTSW	2	91,425,823 (GRCm39)	missense	probably benign	0.03
R8946:Ckap5	UTSW	2	91,409,861 (GRCm39)	missense	probably benign	0.44
R8982:Ckap5	UTSW	2	91,437,923 (GRCm39)	missense	possibly damaging	0.68
R9113:Ckap5	UTSW	2	91,426,144 (GRCm39)	missense	probably damaging	1.00
R9161:Ckap5	UTSW	2	91,445,653 (GRCm39)	missense	probably benign
R9238:Ckap5	UTSW	2	91,399,027 (GRCm39)	missense	probably null	0.10
R9339:Ckap5	UTSW	2	91,396,100 (GRCm39)	missense	probably benign
R9571:Ckap5	UTSW	2	91,387,953 (GRCm39)	missense	probably damaging	1.00
R9718:Ckap5	UTSW	2	91,379,177 (GRCm39)	missense	probably benign	0.10
X0010:Ckap5	UTSW	2	91,426,854 (GRCm39)	missense	possibly damaging	0.61
Z1177:Ckap5	UTSW	2	91,416,143 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAACAGCAAGATGACCGGC -3'
(R):5'- AGAGCATGTGCAGACTTGAG -3'

Sequencing Primer
(F):5'- AAGATGACCGGCCTCCACTG -3'
(R):5'- AGACTTGAGGCACCACTGCTC -3'

Posted On

2015-03-18