Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Ckap2l'

418044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ckap2l

Ensembl Gene

ENSMUSG00000048327

Gene Name

cytoskeleton associated protein 2-like

Synonyms

Radmis, 2010016H04Rik, 2610318C08Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

129110130-129139132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129126967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 404 (Y404N)

Ref Sequence

ENSEMBL: ENSMUSP00000056145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052708]

AlphaFold

Q7TS74

Predicted Effect

probably benign
Transcript: ENSMUST00000052708
AA Change: Y404N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000056145
Gene: ENSMUSG00000048327
AA Change: Y404N

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
Pfam:CKAP2_C	425	644	3e-32	PFAM
Pfam:CKAP2_C	675	734	6.9e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Cdh13	C	A	8: 120,015,463 (GRCm39)	D559E	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	Het

Other mutations in Ckap2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Ckap2l	APN	2	129,111,136 (GRCm39)	missense	probably damaging	1.00
IGL02120:Ckap2l	APN	2	129,127,542 (GRCm39)	missense	possibly damaging	0.58
IGL03175:Ckap2l	APN	2	129,127,437 (GRCm39)	missense	probably benign	0.01
IGL03333:Ckap2l	APN	2	129,138,228 (GRCm39)	splice site	probably null
R0196:Ckap2l	UTSW	2	129,127,342 (GRCm39)	missense	probably benign	0.43
R0501:Ckap2l	UTSW	2	129,127,411 (GRCm39)	missense	possibly damaging	0.78
R0715:Ckap2l	UTSW	2	129,127,636 (GRCm39)	missense	probably benign	0.02
R0834:Ckap2l	UTSW	2	129,138,224 (GRCm39)	splice site	probably benign
R1119:Ckap2l	UTSW	2	129,114,492 (GRCm39)	splice site	probably benign
R1561:Ckap2l	UTSW	2	129,112,645 (GRCm39)	missense	probably benign	0.01
R1677:Ckap2l	UTSW	2	129,127,087 (GRCm39)	missense	possibly damaging	0.86
R1823:Ckap2l	UTSW	2	129,117,499 (GRCm39)	missense	probably damaging	1.00
R1971:Ckap2l	UTSW	2	129,127,342 (GRCm39)	missense	possibly damaging	0.92
R4803:Ckap2l	UTSW	2	129,111,176 (GRCm39)	missense	probably damaging	1.00
R5214:Ckap2l	UTSW	2	129,127,389 (GRCm39)	missense	probably benign	0.02
R5264:Ckap2l	UTSW	2	129,127,299 (GRCm39)	missense	probably benign	0.01
R5297:Ckap2l	UTSW	2	129,127,290 (GRCm39)	missense	possibly damaging	0.56
R5535:Ckap2l	UTSW	2	129,127,762 (GRCm39)	missense	probably benign	0.00
R5606:Ckap2l	UTSW	2	129,127,959 (GRCm39)	missense	probably damaging	0.98
R6327:Ckap2l	UTSW	2	129,127,414 (GRCm39)	missense	probably damaging	1.00
R6489:Ckap2l	UTSW	2	129,111,034 (GRCm39)	missense	possibly damaging	0.85
R6726:Ckap2l	UTSW	2	129,111,114 (GRCm39)	missense	probably damaging	1.00
R7199:Ckap2l	UTSW	2	129,126,975 (GRCm39)	missense	probably benign	0.25
R7220:Ckap2l	UTSW	2	129,117,436 (GRCm39)	missense	probably damaging	1.00
R7329:Ckap2l	UTSW	2	129,127,284 (GRCm39)	missense	possibly damaging	0.56
R7374:Ckap2l	UTSW	2	129,126,883 (GRCm39)	missense	probably damaging	1.00
R7383:Ckap2l	UTSW	2	129,111,172 (GRCm39)	missense	possibly damaging	0.88
R7484:Ckap2l	UTSW	2	129,114,455 (GRCm39)	missense	possibly damaging	0.82
R7611:Ckap2l	UTSW	2	129,127,600 (GRCm39)	missense	possibly damaging	0.88
R7868:Ckap2l	UTSW	2	129,127,209 (GRCm39)	missense	probably damaging	1.00
R8338:Ckap2l	UTSW	2	129,126,939 (GRCm39)	missense	probably damaging	0.99
R8514:Ckap2l	UTSW	2	129,127,788 (GRCm39)	missense	possibly damaging	0.61
R8790:Ckap2l	UTSW	2	129,111,172 (GRCm39)	missense	possibly damaging	0.88
R9043:Ckap2l	UTSW	2	129,126,892 (GRCm39)	missense	probably damaging	0.99
R9215:Ckap2l	UTSW	2	129,123,826 (GRCm39)	missense	possibly damaging	0.74
R9496:Ckap2l	UTSW	2	129,112,595 (GRCm39)	missense	probably benign	0.37
R9526:Ckap2l	UTSW	2	129,111,161 (GRCm39)	nonsense	probably null
RF037:Ckap2l	UTSW	2	129,112,569 (GRCm39)	small deletion	probably benign
Z1176:Ckap2l	UTSW	2	129,127,282 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02