Mutagenetix > Incidental Mutation

Incidental Mutation 'R9238:Ckap5'

700572

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

D730027C18Rik, 4930432B04Rik, 3110043H24Rik

MMRRC Submission

068987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91357107-91451009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91399027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 604 (C604S)

Ref Sequence

ENSEMBL: ENSMUSP00000097303 (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: C604S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: C604S

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 null
Transcript: ENSMUST00000099716
AA Change: C604S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: C604S

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: C604S

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: C604S

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: C604S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: C604S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (47/48)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	C	A	5: 137,653,622 (GRCm39)	V365F	probably damaging	Het
Atxn7	A	T	14: 14,089,441 (GRCm38)	N319I	probably damaging	Het
AY074887	C	T	9: 54,858,087 (GRCm39)	V13M	unknown	Het
Boc	T	C	16: 44,311,021 (GRCm39)	T738A		Het
C2cd5	A	G	6: 143,027,127 (GRCm39)	V126A	possibly damaging	Het
Cdk9	A	T	2: 32,598,273 (GRCm39)	L261Q	possibly damaging	Het
Chi3l1	T	C	1: 134,115,685 (GRCm39)	L231P	probably damaging	Het
Dop1a	T	C	9: 86,415,027 (GRCm39)	V1923A	probably benign	Het
Dop1b	T	C	16: 93,546,018 (GRCm39)	S230P	probably benign	Het
Eps15l1	T	C	8: 73,095,274 (GRCm39)	E892G	probably damaging	Het
Fasn	T	C	11: 120,705,871 (GRCm39)	T1133A	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fras1	A	T	5: 96,832,220 (GRCm39)	I1518F	possibly damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Herc2	T	A	7: 55,813,508 (GRCm39)	C2580S	probably damaging	Het
Ino80b	T	A	6: 83,102,314 (GRCm39)		probably benign	Het
Kdm2b	T	C	5: 123,009,889 (GRCm39)	R1274G	probably damaging	Het
Lcn12	A	G	2: 25,382,273 (GRCm39)	I144T	possibly damaging	Het
Lrrc37	G	T	11: 103,509,859 (GRCm39)	P703Q	unknown	Het
Mroh5	T	C	15: 73,663,586 (GRCm39)	N158S	probably benign	Het
Mtpap	G	T	18: 4,396,439 (GRCm39)	G577V	probably damaging	Het
Ncoa1	A	G	12: 4,325,177 (GRCm39)	V967A	possibly damaging	Het
Ndufa11	T	C	17: 57,028,112 (GRCm39)	Y61H	probably benign	Het
Nr2c2	T	A	6: 92,144,530 (GRCm39)	N602K	probably damaging	Het
Nubp1	C	A	16: 10,231,604 (GRCm39)	T85K	probably benign	Het
Oosp3	A	G	19: 11,676,753 (GRCm39)	I37M	probably damaging	Het
Optn	A	G	2: 5,057,951 (GRCm39)	S73P	probably damaging	Het
Or10j3	T	C	1: 173,031,352 (GRCm39)	I143T	probably benign	Het
Or2y15	A	G	11: 49,350,529 (GRCm39)	T8A	probably benign	Het
Osmr	T	G	15: 6,846,086 (GRCm39)	I779L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,190 (GRCm39)	D370G	probably benign	Het
Pgap1	A	G	1: 54,550,570 (GRCm39)	S571P	probably benign	Het
Pgbd5	A	G	8: 125,106,930 (GRCm39)	I204T	probably damaging	Het
Pkhd1	A	G	1: 20,604,799 (GRCm39)	I1172T	possibly damaging	Het
Plch1	T	A	3: 63,606,412 (GRCm39)	H1164L	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab38	T	A	7: 88,099,954 (GRCm39)	F156L	possibly damaging	Het
Rtl1	T	C	12: 109,561,017 (GRCm39)	E274G	possibly damaging	Het
Serpinb9	A	G	13: 33,199,479 (GRCm39)	D258G	probably benign	Het
Slc26a11	T	C	11: 119,265,733 (GRCm39)		probably null	Het
Slco1a7	G	T	6: 141,686,153 (GRCm39)	T229K	probably damaging	Het
Stard9	C	A	2: 120,528,447 (GRCm39)	T1568N	probably damaging	Het
Ston2	T	C	12: 91,615,461 (GRCm39)	T316A	probably benign	Het
Tacc1	A	T	8: 25,672,634 (GRCm39)	M198K	probably benign	Het
Tspan33	T	C	6: 29,710,652 (GRCm39)	F76S	probably damaging	Het
Tspyl5	T	C	15: 33,687,082 (GRCm39)	I288V	possibly damaging	Het
Vmn2r50	G	A	7: 9,781,503 (GRCm39)	S414F	probably benign	Het
Zfp141	G	A	7: 42,125,111 (GRCm39)	R454*	probably null	Het
Zscan22	T	A	7: 12,641,075 (GRCm39)	C440S	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,339 (GRCm39)	Q153L	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
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
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'- GGAGGTCTTCCTGAGTTCTTTAAC -3'
(R):5'- GAAAGCTCAACCTCATCGTAAG -3'

Sequencing Primer
(F):5'- TCTACAGAGTTAGTTCCAGGACAGC -3'
(R):5'- GACAAATGTTAGTGTTGTGT -3'

Posted On

2022-02-07