Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03395:Cenpq'

421211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpq

Ensembl Gene

ENSMUSG00000023919

Gene Name

centromere protein Q

Synonyms

2610528M18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL03395

Quality Score

Status

Chromosome

Chromosomal Location

41233942-41245938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41234449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 247 (L247P)

Ref Sequence

ENSEMBL: ENSMUSP00000084353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087114]

AlphaFold

Q9CPQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000087114
AA Change: L247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
AA Change: L247P

Domain	Start	End	E-Value	Type
Pfam:CENP-Q	118	268	7.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130890

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,746 (GRCm39)	D308G	probably damaging	Het
Adgrg3	A	T	8: 95,761,701 (GRCm39)	I155F	probably damaging	Het
Ado	T	C	10: 67,384,368 (GRCm39)	Y79C	probably benign	Het
Aox1	T	C	1: 58,107,884 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,734 (GRCm39)	D165E	probably damaging	Het
Ccdc124	A	C	8: 71,321,251 (GRCm39)	M163R	probably benign	Het
Ceacam5	T	C	7: 17,479,304 (GRCm39)		probably benign	Het
Crat	A	G	2: 30,294,978 (GRCm39)	V479A	probably benign	Het
Egfr	T	C	11: 16,860,261 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Emc9	C	T	14: 55,822,197 (GRCm39)	A72T	probably benign	Het
Fbxo5	G	A	10: 5,751,935 (GRCm39)	S226F	probably benign	Het
Gm42688	A	C	6: 83,085,352 (GRCm39)	E737D	possibly damaging	Het
Got1l1	G	T	8: 27,690,885 (GRCm39)	H54Q	probably benign	Het
Grid2	G	A	6: 63,886,053 (GRCm39)	V150I	possibly damaging	Het
Klc4	C	T	17: 46,943,789 (GRCm39)	V506M	probably damaging	Het
Lrrc8c	A	G	5: 105,754,495 (GRCm39)	N90S	probably benign	Het
Lrrk2	T	A	15: 91,681,617 (GRCm39)		probably null	Het
Mbd6	G	A	10: 127,119,286 (GRCm39)	R950C	probably damaging	Het
Nol11	A	G	11: 107,066,548 (GRCm39)	V414A	probably benign	Het
Or7e178	A	T	9: 20,225,847 (GRCm39)	M123K	probably damaging	Het
Pcnt	T	C	10: 76,272,325 (GRCm39)	E177G	possibly damaging	Het
Pcnx2	G	T	8: 126,614,262 (GRCm39)	D396E	probably benign	Het
Pcyt2	A	T	11: 120,503,876 (GRCm39)		probably null	Het
Pds5a	T	C	5: 65,809,792 (GRCm39)	D390G	possibly damaging	Het
Pik3r2	T	C	8: 71,224,999 (GRCm39)	T155A	probably benign	Het
Rab31	T	A	17: 66,003,362 (GRCm39)	H95L	probably benign	Het
Rfx5	C	T	3: 94,865,113 (GRCm39)	R259*	probably null	Het
Slc6a17	T	C	3: 107,384,622 (GRCm39)	D285G	probably damaging	Het
Spats2l	A	T	1: 57,977,175 (GRCm39)	I318F	probably damaging	Het
Spef1l	G	T	7: 139,556,589 (GRCm39)		probably benign	Het
Tcf12	A	G	9: 71,783,304 (GRCm39)	S361P	probably damaging	Het

Other mutations in Cenpq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Cenpq	APN	17	41,244,067 (GRCm39)	missense	possibly damaging	0.92
IGL01573:Cenpq	APN	17	41,240,936 (GRCm39)	missense	possibly damaging	0.63
IGL02351:Cenpq	APN	17	41,235,223 (GRCm39)	missense	probably damaging	1.00
IGL02358:Cenpq	APN	17	41,235,223 (GRCm39)	missense	probably damaging	1.00
R0270:Cenpq	UTSW	17	41,240,941 (GRCm39)	missense	probably damaging	1.00
R0389:Cenpq	UTSW	17	41,244,085 (GRCm39)	unclassified	probably benign
R1765:Cenpq	UTSW	17	41,235,178 (GRCm39)	critical splice donor site	probably null
R4029:Cenpq	UTSW	17	41,238,140 (GRCm39)	missense	probably damaging	0.99
R6187:Cenpq	UTSW	17	41,238,089 (GRCm39)	missense	probably benign	0.00
R6357:Cenpq	UTSW	17	41,235,418 (GRCm39)	missense	probably damaging	1.00
R8115:Cenpq	UTSW	17	41,243,720 (GRCm39)	missense	probably damaging	0.96
R8810:Cenpq	UTSW	17	41,244,027 (GRCm39)	missense	possibly damaging	0.50
R8874:Cenpq	UTSW	17	41,242,551 (GRCm39)	missense	probably damaging	1.00
R9064:Cenpq	UTSW	17	41,243,731 (GRCm39)	missense	probably benign	0.14
R9755:Cenpq	UTSW	17	41,243,712 (GRCm39)	missense	probably benign	0.33
X0057:Cenpq	UTSW	17	41,242,559 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02