Mutagenetix > Incidental Mutation

Incidental Mutation 'R5793:Ckap5'

447061

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

D730027C18Rik, 4930432B04Rik, 3110043H24Rik

MMRRC Submission

043208-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5793 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91357107-91451009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91450180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1891 (T1891I)

Ref Sequence

ENSEMBL: ENSMUSP00000106969 (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: T1930I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: T1930I

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: T1951I

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

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: T1951I

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: T1891I

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: T1891I

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: T1951I

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

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: T1951I

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	C	A	11: 70,133,879 (GRCm39)	R522L	probably benign	Het
Arfgef1	A	T	1: 10,279,753 (GRCm39)	D271E	probably benign	Het
Arg1	C	T	10: 24,796,540 (GRCm39)	V96M	probably benign	Het
Axin1	T	C	17: 26,362,282 (GRCm39)	S209P	probably damaging	Het
B4galnt3	A	G	6: 120,185,865 (GRCm39)		probably null	Het
Cdh23	T	A	10: 60,141,907 (GRCm39)	D3058V	probably damaging	Het
Chd9	A	G	8: 91,728,384 (GRCm39)	T794A	probably damaging	Het
Cspg4b	G	T	13: 113,457,556 (GRCm39)	V1201L	possibly damaging	Het
Dzank1	T	C	2: 144,348,144 (GRCm39)	I207M	probably benign	Het
Fkbp9	G	A	6: 56,850,498 (GRCm39)		probably null	Het
Gm4781	T	A	10: 100,232,529 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtpbp6	G	A	5: 110,255,094 (GRCm39)	L33F	probably benign	Het
Hsd11b1	A	C	1: 192,924,492 (GRCm39)	F27V	probably damaging	Het
Ift172	A	T	5: 31,434,292 (GRCm39)	I482N	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Ly6g2	T	C	15: 75,093,493 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,653,077 (GRCm39)	Q1420R	probably benign	Het
Ncam2	G	A	16: 81,372,991 (GRCm39)	V569I	possibly damaging	Het
Nsd1	T	C	13: 55,395,819 (GRCm39)	V1140A	probably benign	Het
Ogdhl	T	A	14: 32,054,730 (GRCm39)	L226Q	probably damaging	Het
Or51a24	T	C	7: 103,734,237 (GRCm39)	T17A	probably benign	Het
Orc2	T	C	1: 58,536,547 (GRCm39)	M1V	probably null	Het
Padi2	T	C	4: 140,660,501 (GRCm39)	L327P	probably benign	Het
Palb2	T	C	7: 121,726,860 (GRCm39)	N337D	probably benign	Het
Pard3b	A	T	1: 61,807,132 (GRCm39)	H49L	probably damaging	Het
Pigz	T	C	16: 31,764,285 (GRCm39)	S448P	probably benign	Het
Ppfia4	A	G	1: 134,239,844 (GRCm39)	V911A	probably damaging	Het
Prr5	T	A	15: 84,656,223 (GRCm39)	M408K	probably benign	Het
Qser1	T	C	2: 104,593,205 (GRCm39)	Y1604C	probably damaging	Het
Rpgrip1l	A	G	8: 91,987,400 (GRCm39)	S886P	probably benign	Het
Sdk2	T	C	11: 113,759,778 (GRCm39)	I408V	possibly damaging	Het
Sema7a	A	T	9: 57,867,540 (GRCm39)	R431W	probably damaging	Het
Slc22a30	T	A	19: 8,314,183 (GRCm39)	Y501F	possibly damaging	Het
Slitrk5	T	A	14: 111,917,345 (GRCm39)	V323D	probably damaging	Het
Snap47	C	T	11: 59,329,018 (GRCm39)	E95K	probably damaging	Het
Tbc1d9	A	T	8: 83,998,069 (GRCm39)	I1209F	probably damaging	Het
Tek	T	A	4: 94,708,333 (GRCm39)	M297K	probably benign	Het
Tmem132e	T	A	11: 82,335,684 (GRCm39)	I922N	probably damaging	Het
Tmx2	T	C	2: 84,506,501 (GRCm39)	R64G	probably damaging	Het
Trim68	A	T	7: 102,333,560 (GRCm39)	S41T	possibly damaging	Het
Tsga10	A	T	1: 37,874,540 (GRCm39)	M115K	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r84	C	T	10: 130,221,754 (GRCm39)	C822Y	probably damaging	Het
Wdr72	C	T	9: 74,117,625 (GRCm39)	A779V	probably benign	Het
Zfp580	A	T	7: 5,055,891 (GRCm39)		probably benign	Het
Zfp772	G	A	7: 7,207,283 (GRCm39)	T136I	probably benign	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
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
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'- ATGTGGATCTCTGCATGGGC -3'
(R):5'- ATGTCTGTGGAGGAGGCAAC -3'

Sequencing Primer
(F):5'- GATCTCTGCATGGGCTTCCTTC -3'
(R):5'- ATTGCTGGTTTGGAGAGCAAAG -3'

Posted On

2016-12-15