Mutagenetix > Incidental Mutation

Incidental Mutation 'R3420:Ckap5'

266997

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

D730027C18Rik, 4930432B04Rik, 3110043H24Rik

MMRRC Submission

040638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91357107-91451009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91400597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 650 (W650R)

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 damaging
Transcript: ENSMUST00000046769
AA Change: W650R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: W650R

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: W650R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: W650R

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: W650R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: W650R

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: W650R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: W650R

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

0.4269

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	G	6: 34,770,900 (GRCm39)	T132A	probably benign	Het
Amn1	A	T	6: 149,070,950 (GRCm39)	L196*	probably null	Het
Ccdc73	A	T	2: 104,782,292 (GRCm39)	K216M	probably null	Het
Ccdc73	G	A	2: 104,782,293 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,321,732 (GRCm39)	V360A	probably benign	Het
Cyp2b9	G	A	7: 25,909,528 (GRCm39)	G432E	probably damaging	Het
Dclre1b	A	G	3: 103,715,412 (GRCm39)	Y29H	probably damaging	Het
Enthd1	T	C	15: 80,444,225 (GRCm39)	D110G	probably damaging	Het
Grin1	C	T	2: 25,193,926 (GRCm39)	G390D	probably damaging	Het
Hoxc6	T	A	15: 102,919,327 (GRCm39)	W188R	probably damaging	Het
Kcnip1	A	G	11: 33,595,594 (GRCm39)	V43A	probably damaging	Het
Kifap3	T	A	1: 163,621,595 (GRCm39)	I81N	probably damaging	Het
Klb	G	A	5: 65,529,485 (GRCm39)	G338S	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nuak2	A	G	1: 132,259,818 (GRCm39)	D532G	probably benign	Het
Or8d1	A	G	9: 38,766,621 (GRCm39)	K88E	possibly damaging	Het
Prps2	G	A	X: 166,165,504 (GRCm39)		probably null	Het
Prss23	C	A	7: 89,159,107 (GRCm39)	V321L	possibly damaging	Het
Psmb2	T	C	4: 126,571,630 (GRCm39)	M28T	probably damaging	Het
Ric1	T	C	19: 29,544,990 (GRCm39)	I230T	probably damaging	Het
Slc25a17	C	T	15: 81,244,901 (GRCm39)	V11I	probably benign	Het
Slc5a4a	T	C	10: 76,012,407 (GRCm39)	V359A	probably benign	Het
Slco1a5	A	T	6: 142,213,964 (GRCm39)	D52E	possibly damaging	Het
Tafa1	C	A	6: 96,626,099 (GRCm39)	D112E	probably damaging	Het
Tlr4	A	G	4: 66,757,773 (GRCm39)	I189V	probably benign	Het
Washc1	T	C	17: 66,424,028 (GRCm39)	S247P	probably damaging	Het
Zdhhc14	T	A	17: 5,803,366 (GRCm39)	*490R	probably null	Het
Zfp217	A	G	2: 169,961,937 (GRCm39)	F130S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATCTTGGCTTGGCTTAGC -3'
(R):5'- GCAAAACTGGGACTCACAAG -3'

Sequencing Primer
(F):5'- GGCTTAGCTTGACTTTAGGATCTACC -3'
(R):5'- CCGGAACTCAGTAAGATGGTCTC -3'

Posted On

2015-02-18