Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Ckap5'

669330

Institutional Source

Beutler Lab

Gene Symbol

Ckap5

Ensembl Gene

ENSMUSG00000040549

Gene Name

cytoskeleton associated protein 5

Synonyms

4930432B04Rik, 3110043H24Rik, D730027C18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91526762-91620664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91595478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1285 (N1285K)

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: N1285K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046263
Gene: ENSMUSG00000040549
AA Change: N1285K

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: N1285K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097303
Gene: ENSMUSG00000040549
AA Change: N1285K

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: N1285K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106969
Gene: ENSMUSG00000040549
AA Change: N1285K

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: N1285K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106970
Gene: ENSMUSG00000040549
AA Change: N1285K

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Ckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Ckap5	APN	2	91606256	missense	probably damaging	1.00
IGL00566:Ckap5	APN	2	91568627	splice site	probably benign
IGL00585:Ckap5	APN	2	91619825	missense	probably damaging	1.00
IGL00910:Ckap5	APN	2	91576050	missense	probably benign	0.32
IGL01309:Ckap5	APN	2	91570184	missense	probably damaging	0.99
IGL01411:Ckap5	APN	2	91601011	missense	probably benign	0.26
IGL01654:Ckap5	APN	2	91577609	missense	probably benign	0.26
IGL01684:Ckap5	APN	2	91555354	missense	probably benign	0.06
IGL02031:Ckap5	APN	2	91612772	missense	possibly damaging	0.85
IGL02057:Ckap5	APN	2	91600707	missense	possibly damaging	0.91
IGL02101:Ckap5	APN	2	91572540	splice site	probably benign
IGL02250:Ckap5	APN	2	91548901	missense	probably damaging	1.00
IGL02556:Ckap5	APN	2	91594841	splice site	probably benign
IGL02620:Ckap5	APN	2	91606369	missense	probably benign	0.01
IGL02627:Ckap5	APN	2	91576021	missense	probably damaging	1.00
IGL02693:Ckap5	APN	2	91570211	missense	probably damaging	1.00
IGL02808:Ckap5	APN	2	91596514	missense	probably damaging	1.00
IGL03086:Ckap5	APN	2	91570276	splice site	probably benign
Elephantine	UTSW	2	91576269	missense	probably damaging	1.00
hardiness	UTSW	2	91615100	missense	possibly damaging	0.68
total	UTSW	2	91570252	missense	probably damaging	0.99
K7371:Ckap5	UTSW	2	91595523	splice site	probably benign
R0106:Ckap5	UTSW	2	91578205	missense	possibly damaging	0.90
R0106:Ckap5	UTSW	2	91615840	missense	probably damaging	1.00
R0114:Ckap5	UTSW	2	91620112	missense	possibly damaging	0.86
R0464:Ckap5	UTSW	2	91579513	missense	probably benign	0.00
R0633:Ckap5	UTSW	2	91550743	missense	probably damaging	0.96
R0723:Ckap5	UTSW	2	91555331	missense	probably damaging	0.99
R1037:Ckap5	UTSW	2	91550629	missense	probably benign	0.00
R1139:Ckap5	UTSW	2	91581143	missense	probably benign	0.11
R1161:Ckap5	UTSW	2	91599375	missense	probably null	1.00
R1183:Ckap5	UTSW	2	91586266	missense	probably benign	0.01
R1660:Ckap5	UTSW	2	91562958	missense	possibly damaging	0.92
R1850:Ckap5	UTSW	2	91595713	missense	probably damaging	1.00
R1951:Ckap5	UTSW	2	91556492	splice site	probably benign
R1968:Ckap5	UTSW	2	91586343	missense	probably benign	0.10
R2004:Ckap5	UTSW	2	91607546	missense	possibly damaging	0.91
R2143:Ckap5	UTSW	2	91565745	missense	probably benign	0.00
R2391:Ckap5	UTSW	2	91585869	missense	possibly damaging	0.66
R2435:Ckap5	UTSW	2	91581145	missense	probably benign	0.01
R2438:Ckap5	UTSW	2	91595408	missense	possibly damaging	0.95
R2680:Ckap5	UTSW	2	91588698	missense	probably benign
R2698:Ckap5	UTSW	2	91578081	missense	probably damaging	1.00
R3420:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R3422:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R3696:Ckap5	UTSW	2	91620166	missense	probably benign	0.15
R3698:Ckap5	UTSW	2	91620166	missense	probably benign	0.15
R3877:Ckap5	UTSW	2	91615150	missense	possibly damaging	0.69
R4453:Ckap5	UTSW	2	91548845	missense	probably damaging	1.00
R4604:Ckap5	UTSW	2	91578131	missense	probably benign	0.00
R4605:Ckap5	UTSW	2	91576214	missense	probably damaging	1.00
R4849:Ckap5	UTSW	2	91615271	missense	probably damaging	1.00
R5267:Ckap5	UTSW	2	91591752	missense	probably null	1.00
R5367:Ckap5	UTSW	2	91615141	missense	possibly damaging	0.69
R5481:Ckap5	UTSW	2	91572447	missense	possibly damaging	0.62
R5546:Ckap5	UTSW	2	91594816	missense	probably damaging	1.00
R5704:Ckap5	UTSW	2	91576203	missense	probably damaging	1.00
R5786:Ckap5	UTSW	2	91616296	splice site	probably null
R5793:Ckap5	UTSW	2	91619835	missense	possibly damaging	0.74
R5824:Ckap5	UTSW	2	91559136	missense	probably benign	0.34
R5841:Ckap5	UTSW	2	91600682	missense	probably benign	0.05
R5875:Ckap5	UTSW	2	91560861	missense	probably benign
R5935:Ckap5	UTSW	2	91615100	missense	possibly damaging	0.68
R6008:Ckap5	UTSW	2	91562989	missense	probably damaging	0.99
R6174:Ckap5	UTSW	2	91568219	missense	probably benign	0.00
R6343:Ckap5	UTSW	2	91596474	missense	possibly damaging	0.95
R6624:Ckap5	UTSW	2	91577651	missense	probably benign	0.01
R6786:Ckap5	UTSW	2	91557575	missense	probably benign	0.01
R6793:Ckap5	UTSW	2	91568709	missense	probably damaging	1.00
R6841:Ckap5	UTSW	2	91570252	missense	probably damaging	0.99
R6972:Ckap5	UTSW	2	91606313	missense	probably damaging	0.98
R7044:Ckap5	UTSW	2	91577601	missense	probably benign
R7111:Ckap5	UTSW	2	91607572	missense	probably damaging	1.00
R7790:Ckap5	UTSW	2	91559110	missense	probably benign
R7809:Ckap5	UTSW	2	91606357	missense	probably benign	0.28
R7921:Ckap5	UTSW	2	91548940	missense	probably damaging	0.96
R8125:Ckap5	UTSW	2	91576269	missense	probably damaging	1.00
R8331:Ckap5	UTSW	2	91576200	missense	probably damaging	1.00
R8342:Ckap5	UTSW	2	91606362	missense	possibly damaging	0.67
R8511:Ckap5	UTSW	2	91615147	missense	possibly damaging	0.95
R8946:Ckap5	UTSW	2	91579516	missense	probably benign	0.44
R8982:Ckap5	UTSW	2	91607578	missense	possibly damaging	0.68
R9113:Ckap5	UTSW	2	91595799	missense	probably damaging	1.00
R9161:Ckap5	UTSW	2	91615308	missense	probably benign
R9238:Ckap5	UTSW	2	91568682	missense	probably null	0.10
R9339:Ckap5	UTSW	2	91565755	missense	probably benign
R9571:Ckap5	UTSW	2	91557608	missense	probably damaging	1.00
R9718:Ckap5	UTSW	2	91548832	missense	probably benign	0.10
X0010:Ckap5	UTSW	2	91596509	missense	possibly damaging	0.61
Z1177:Ckap5	UTSW	2	91585798	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCGTGTCCTCTATAAAGCTG -3'
(R):5'- GTGCAATGGTTATTTCACGCATTAC -3'

Sequencing Primer
(F):5'- TCCATAATGAGATCTGGCGC -3'
(R):5'- CACGCATTACTGTATCTTGAAAGG -3'

Posted On

2021-04-30