Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02693:Ckap5'

303840

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02693

Quality Score

Status

Chromosome

Chromosomal Location

91357107-91451009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91400556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 636 (P636L)

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

possibly damaging
Transcript: ENSMUST00000046769
AA Change: P636L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: P636L

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 damaging
Transcript: ENSMUST00000099716
AA Change: P636L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: P636L

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: P636L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: P636L

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 damaging
Transcript: ENSMUST00000111338
AA Change: P636L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: P636L

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,666,506 (GRCm39)	D271G	probably damaging	Het
Agl	A	T	3: 116,540,077 (GRCm39)	V1478E	possibly damaging	Het
Cnot1	A	G	8: 96,500,113 (GRCm39)	V127A	probably damaging	Het
Cs	A	G	10: 128,185,678 (GRCm39)		probably benign	Het
Fbln1	G	A	15: 85,113,775 (GRCm39)	E170K	probably benign	Het
Gm5866	A	T	5: 52,740,558 (GRCm39)		noncoding transcript	Het
Lpin3	T	C	2: 160,746,975 (GRCm39)	V794A	probably damaging	Het
Ly86	T	G	13: 37,559,005 (GRCm39)	I68S	probably damaging	Het
Mrps34	A	G	17: 25,114,172 (GRCm39)	I11V	probably benign	Het
Nsmce4a	A	G	7: 130,144,538 (GRCm39)	S122P	probably damaging	Het
Olfm1	A	G	2: 28,102,662 (GRCm39)	E112G	probably damaging	Het
Or5w20	T	G	2: 87,726,877 (GRCm39)	C111W	probably damaging	Het
Parp9	A	G	16: 35,777,340 (GRCm39)	E428G	probably benign	Het
Phkb	T	G	8: 86,668,863 (GRCm39)	F297V	probably damaging	Het
Pianp	T	G	6: 124,978,598 (GRCm39)	F268V	possibly damaging	Het
Polr1a	T	C	6: 71,940,830 (GRCm39)		probably benign	Het
Prune2	G	A	19: 17,101,855 (GRCm39)	G2453E	probably benign	Het
Ptpn4	T	C	1: 119,643,699 (GRCm39)	N350D	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfc4	A	G	16: 22,932,960 (GRCm39)	S326P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc35f1	A	T	10: 52,809,224 (GRCm39)	L70F	probably damaging	Het
Slc5a7	T	C	17: 54,583,947 (GRCm39)	T448A	probably benign	Het
Spata31h1	T	C	10: 82,121,092 (GRCm39)	I3973V	probably benign	Het
Spmip9	C	A	6: 70,890,488 (GRCm39)	R101S	possibly damaging	Het
Stoml1	T	A	9: 58,164,359 (GRCm39)	I149N	probably damaging	Het
Sytl1	A	T	4: 132,985,057 (GRCm39)	C180S	probably benign	Het
Traf6	T	C	2: 101,518,850 (GRCm39)	L113P	possibly damaging	Het
Trappc9	A	G	15: 72,835,542 (GRCm39)		probably benign	Het
Tubg2	T	C	11: 101,051,725 (GRCm39)	Y317H	probably damaging	Het
Zfp334	T	C	2: 165,222,433 (GRCm39)	T537A	possibly 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
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
R3698: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

Posted On

2015-04-16