Mutagenetix > Incidental Mutation

Incidental Mutation 'R8115:Cenpq'

631162

Institutional Source

Beutler Lab

Gene Symbol

Cenpq

Ensembl Gene

ENSMUSG00000023919

Gene Name

centromere protein Q

Synonyms

2610528M18Rik

MMRRC Submission

067544-MU

Accession Numbers

Essential gene?

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

Stock #

R8115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41233942-41245938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41243720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 43 (N43D)

Ref Sequence

ENSEMBL: ENSMUSP00000084353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087114] [ENSMUST00000169611]

AlphaFold

Q9CPQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000087114
AA Change: N43D

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084353
Gene: ENSMUSG00000023919
AA Change: N43D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169611

SMART Domains

Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921

Domain	Start	End	E-Value	Type
Pfam:MM_CoA_mutase	60	572	3.7e-240	PFAM
Pfam:B12-binding	613	731	4.7e-17	PFAM

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.4%
20x: 94.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,996 (GRCm39)	I211L	probably benign	Het
Abhd16b	G	A	2: 181,135,527 (GRCm39)	R143H	possibly damaging	Het
Abt1	T	C	13: 23,606,402 (GRCm39)	E184G	probably damaging	Het
Aqp1	AGG	AGGG	6: 55,322,498 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,642 (GRCm39)	R877Q	probably damaging	Het
B3galt1	A	G	2: 67,948,320 (GRCm39)	T12A	possibly damaging	Het
Bcat1	G	A	6: 144,955,819 (GRCm39)	P354L	probably damaging	Het
C9orf72	T	C	4: 35,218,763 (GRCm39)	Y32C		Het
Cad	T	C	5: 31,218,271 (GRCm39)	F452L	possibly damaging	Het
Cadps2	T	A	6: 23,328,897 (GRCm39)	I973F	probably benign	Het
Chd9	G	T	8: 91,762,960 (GRCm39)	V2262L	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,402 (GRCm39)	Q161K	probably damaging	Het
D630003M21Rik	A	T	2: 158,058,510 (GRCm39)	H463Q	probably benign	Het
Defb1	C	T	8: 22,284,500 (GRCm39)	H40Y	probably benign	Het
Dmrtb1	A	T	4: 107,534,256 (GRCm39)	D186E	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efr3a	T	A	15: 65,738,644 (GRCm39)	F758I	probably damaging	Het
Fap	A	G	2: 62,349,385 (GRCm39)	I501T	probably benign	Het
Galr3	C	T	15: 78,927,524 (GRCm39)	R322*	probably null	Het
Hrnr	C	A	3: 93,231,039 (GRCm39)	R426S	unknown	Het
Hsp90ab1	A	T	17: 45,880,201 (GRCm39)	M476K	possibly damaging	Het
Igsf3	G	T	3: 101,362,595 (GRCm39)	R872L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqsec3	T	G	6: 121,449,989 (GRCm39)	R178S	unknown	Het
Itgbl1	T	C	14: 124,094,955 (GRCm39)	C327R	probably damaging	Het
Itsn2	A	T	12: 4,723,602 (GRCm39)	Q1179L	possibly damaging	Het
Kcnb2	T	C	1: 15,781,851 (GRCm39)	*908R	probably null	Het
Kdm5b	G	T	1: 134,547,411 (GRCm39)	W1020L	possibly damaging	Het
Kpna3	C	A	14: 61,608,367 (GRCm39)	V364L	probably damaging	Het
Lsm14a	T	C	7: 34,074,662 (GRCm39)	I93V	probably benign	Het
Mast2	A	G	4: 116,292,644 (GRCm39)	S109P	probably benign	Het
Muc4	G	A	16: 32,575,678 (GRCm39)	S1726N	unknown	Het
Myo7a	T	C	7: 97,715,653 (GRCm39)	D1477G	probably damaging	Het
Nostrin	G	A	2: 69,011,264 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,074,996 (GRCm39)	V352E	probably damaging	Het
Or9a2	T	A	6: 41,748,472 (GRCm39)	T254S	probably benign	Het
Pafah1b1	A	G	11: 74,575,319 (GRCm39)	V195A	probably damaging	Het
Pcdhb4	G	A	18: 37,442,453 (GRCm39)	V588M	probably damaging	Het
Pcsk5	A	G	19: 17,487,530 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,756,707 (GRCm39)	I428V	unknown	Het
Pmfbp1	G	A	8: 110,263,669 (GRCm39)	V824M	probably damaging	Het
Prkag3	T	C	1: 74,787,118 (GRCm39)	R47G	possibly damaging	Het
Prl8a1	T	A	13: 27,758,028 (GRCm39)	H227L	probably benign	Het
Prune2	A	G	19: 17,101,288 (GRCm39)	D2264G	probably benign	Het
Psg28	A	G	7: 18,164,311 (GRCm39)	Y134H	probably benign	Het
Rab3gap2	T	A	1: 184,999,447 (GRCm39)	Y1019N	possibly damaging	Het
Rbm15	A	T	3: 107,238,966 (GRCm39)	F477L	probably damaging	Het
Ric1	A	T	19: 29,563,973 (GRCm39)	N576Y	probably damaging	Het
S1pr1	T	A	3: 115,506,298 (GRCm39)	T99S	probably benign	Het
Serpinb9b	G	T	13: 33,219,531 (GRCm39)	V153F	probably null	Het
Sh2d3c	A	G	2: 32,615,276 (GRCm39)	E122G	probably benign	Het
Slc6a11	T	A	6: 114,108,442 (GRCm39)	W69R	probably damaging	Het
Slco6c1	T	A	1: 97,000,686 (GRCm39)	I539F	probably damaging	Het
Smgc	G	T	15: 91,733,322 (GRCm39)		probably null	Het
Spata17	T	C	1: 186,849,653 (GRCm39)	Y194C	probably damaging	Het
Tap1	A	T	17: 34,412,293 (GRCm39)		probably null	Het
Topbp1	T	C	9: 103,197,740 (GRCm39)	S440P	probably benign	Het
Trpc6	T	C	9: 8,609,982 (GRCm39)	L150P	probably damaging	Het
Ttll4	C	T	1: 74,726,489 (GRCm39)	Q696*	probably null	Het
Ubash3b	C	T	9: 40,937,624 (GRCm39)	E447K	probably damaging	Het
Unc5cl	T	C	17: 48,774,438 (GRCm39)	S477P	possibly damaging	Het
Unc80	A	G	1: 66,688,072 (GRCm39)	T2357A	probably benign	Het
Vmn1r58	A	T	7: 5,413,341 (GRCm39)	S296R	probably benign	Het
Vmn2r85	G	T	10: 130,261,820 (GRCm39)	N172K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yipf7	T	A	5: 69,684,570 (GRCm39)	T82S	probably benign	Het
Zap70	A	G	1: 36,820,287 (GRCm39)	S523G	probably damaging	Het
Zfp354a	A	G	11: 50,960,490 (GRCm39)	T233A	probably benign	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
IGL03395:Cenpq	APN	17	41,234,449 (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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTTCGATGTGACAGGC -3'
(R):5'- CCTTCAAAGGGCTAAAAGTCAG -3'

Sequencing Primer
(F):5'- TTTCGATGTGACAGGCAAACCTC -3'
(R):5'- GGGCTAAAAGTCAGTTTTACTACAC -3'

Posted On

2020-06-30