Mutagenetix > Incidental Mutation

Incidental Mutation 'R5935:Cenpa'

462162

Institutional Source

Beutler Lab

Gene Symbol

Cenpa

Ensembl Gene

ENSMUSG00000029177

Gene Name

centromere protein A

Synonyms

Cenp-A, centrosomin A

MMRRC Submission

044129-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30824214-30832181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30830381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 83 (Q83L)

Ref Sequence

ENSEMBL: ENSMUSP00000142917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031073] [ENSMUST00000133316] [ENSMUST00000134846] [ENSMUST00000144742] [ENSMUST00000149759] [ENSMUST00000199617] [ENSMUST00000199320]

AlphaFold

O35216

Predicted Effect

probably benign
Transcript: ENSMUST00000031073

Predicted Effect

probably benign
Transcript: ENSMUST00000133316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134372

Predicted Effect

probably benign
Transcript: ENSMUST00000134846

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144742
AA Change: Q83L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122831
Gene: ENSMUSG00000029177
AA Change: Q83L

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
H3	28	131	5.22e-66	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149759

SMART Domains

Protein: ENSMUSP00000142915
Gene: ENSMUSG00000029177

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150810

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199617
AA Change: Q83L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142917
Gene: ENSMUSG00000029177
AA Change: Q83L

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
H3	28	129	1.5e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000199320
AA Change: Q83L

SMART Domains

Protein: ENSMUSP00000143575
Gene: ENSMUSG00000029177
AA Change: Q83L

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
H3	28	97	2.6e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197962

Meta Mutation Damage Score

0.2676

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (92/96)

MGI Phenotype

FUNCTION: Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5 and E10.5. Embryogenesis is impaired due to chromosomal missegregation, aneuploidy, and apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	C	G	8: 43,974,335 (GRCm39)	M222I	probably benign	Het
Ahnak	T	C	19: 8,992,546 (GRCm39)	V4610A	possibly damaging	Het
Ankrd13c	C	T	3: 157,653,220 (GRCm39)		silent	Het
Cables2	A	G	2: 179,903,841 (GRCm39)		probably benign	Het
Cabp2	C	A	19: 4,136,497 (GRCm39)	A181D	probably damaging	Het
Camsap3	A	G	8: 3,651,999 (GRCm39)	D265G	probably damaging	Het
Cbs	G	T	17: 31,851,853 (GRCm39)	T50N	probably damaging	Het
Cit	A	T	5: 116,063,598 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,445,445 (GRCm39)	E1694G	possibly damaging	Het
Copz1	A	T	15: 103,203,197 (GRCm39)	M104L	probably benign	Het
Crot	T	A	5: 9,024,192 (GRCm39)	M335L	probably benign	Het
Ctnna2	T	C	6: 77,120,904 (GRCm39)	D373G	probably benign	Het
Ctu2	G	A	8: 123,203,693 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,027,455 (GRCm39)	Y75*	probably null	Het
Dbi	A	G	1: 120,048,583 (GRCm39)	I21T	probably benign	Het
Dcun1d3	A	G	7: 119,458,799 (GRCm39)	S79P	probably benign	Het
Dock10	T	A	1: 80,483,304 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,381,875 (GRCm39)	I543N	probably damaging	Het
Epx	G	T	11: 87,756,318 (GRCm39)	A621E	probably damaging	Het
Farp2	G	A	1: 93,548,367 (GRCm39)		probably null	Het
Gm11992	C	T	11: 9,002,711 (GRCm39)	P25S	probably damaging	Het
Grik5	A	T	7: 24,758,502 (GRCm39)	M307K	possibly damaging	Het
Hnf1b	A	T	11: 83,773,503 (GRCm39)	N234I	probably damaging	Het
Htr2a	A	G	14: 74,882,530 (GRCm39)	D172G	probably damaging	Het
Ifit1bl2	T	C	19: 34,597,128 (GRCm39)	T163A	probably benign	Het
Igsf10	A	T	3: 59,235,578 (GRCm39)	D1534E	probably benign	Het
Il3ra	T	G	14: 14,350,799 (GRCm38)	V178G	probably damaging	Het
Itgb1	A	T	8: 129,439,718 (GRCm39)	K136*	probably null	Het
Itprid1	A	T	6: 55,874,754 (GRCm39)	R235*	probably null	Het
Lama2	T	A	10: 26,891,494 (GRCm39)	I2540F	probably benign	Het
Lrp8	C	A	4: 107,714,493 (GRCm39)	H622Q	probably damaging	Het
Lrrc2	T	A	9: 110,795,629 (GRCm39)	M138K	probably benign	Het
Lrrk2	C	A	15: 91,630,034 (GRCm39)	H1242N	probably benign	Het
Lsm11	G	C	11: 45,835,445 (GRCm39)	R99G	probably benign	Het
Mif4gd	C	T	11: 115,500,439 (GRCm39)	V40M	probably benign	Het
Mpp3	A	T	11: 101,916,241 (GRCm39)	V37D	probably damaging	Het
Mre11a	T	A	9: 14,698,258 (GRCm39)	D35E	probably damaging	Het
Mroh4	C	A	15: 74,493,003 (GRCm39)	V233F	probably damaging	Het
Npy2r	A	T	3: 82,448,068 (GRCm39)	S123T	possibly damaging	Het
Nrip2	A	G	6: 128,385,361 (GRCm39)	Y264C	possibly damaging	Het
Obscn	A	G	11: 58,897,639 (GRCm39)	S6639P	unknown	Het
Or10d4	C	T	9: 39,580,386 (GRCm39)	T11I	probably benign	Het
Or51t4	T	A	7: 102,598,017 (GRCm39)	F105Y	probably benign	Het
Osbpl5	C	T	7: 143,310,695 (GRCm39)		probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pcdhb8	A	G	18: 37,489,243 (GRCm39)	D307G	probably damaging	Het
Pde1b	A	G	15: 103,429,866 (GRCm39)	K120E	possibly damaging	Het
Pdzrn4	T	C	15: 92,295,255 (GRCm39)	S154P	probably benign	Het
Ppp1r13b	T	C	12: 111,796,876 (GRCm39)	K889R	probably benign	Het
Ppp4r3a	T	A	12: 101,017,872 (GRCm39)	D439V	probably damaging	Het
Ptk2b	A	G	14: 66,411,328 (GRCm39)	I401T	probably damaging	Het
Rab24	T	C	13: 55,468,343 (GRCm39)	T153A	probably damaging	Het
Rarb	C	A	14: 16,434,264 (GRCm38)	A305S	probably damaging	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Scn10a	G	A	9: 119,456,237 (GRCm39)	T1194I	probably damaging	Het
Scn3a	G	T	2: 65,295,180 (GRCm39)	N1514K	probably damaging	Het
Serpinb3d	T	C	1: 107,011,105 (GRCm39)	T36A	probably benign	Het
Shisa5	T	A	9: 108,885,751 (GRCm39)	M229K	possibly damaging	Het
Sik2	C	T	9: 50,828,431 (GRCm39)	G204R	probably damaging	Het
Sla	C	T	15: 66,665,554 (GRCm39)	G46E	probably damaging	Het
Slc35g3	A	T	11: 69,652,509 (GRCm39)	M1K	probably null	Het
Slc5a7	A	T	17: 54,583,972 (GRCm39)	Y439*	probably null	Het
Slc9a1	T	C	4: 133,147,176 (GRCm39)		probably benign	Het
Slitrk6	T	G	14: 110,987,305 (GRCm39)	T801P	probably benign	Het
Spata31d1c	T	C	13: 65,184,894 (GRCm39)	V812A	possibly damaging	Het
Spata31g1	T	C	4: 42,971,465 (GRCm39)	L230P	probably benign	Het
Spef1l	G	A	7: 139,556,526 (GRCm39)	H154Y	probably benign	Het
Sphkap	A	C	1: 83,317,320 (GRCm39)	L59R	probably damaging	Het
Spmip8	A	T	8: 96,046,620 (GRCm39)	T98S	possibly damaging	Het
Srsf10	C	A	4: 135,583,553 (GRCm39)	R6S	probably damaging	Het
Supt5	T	A	7: 28,028,900 (GRCm39)	R131S	probably benign	Het
Syne1	T	C	10: 5,310,706 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,194,296 (GRCm39)	H46L	possibly damaging	Het
Tnfsf4	T	A	1: 161,244,819 (GRCm39)	N169K	probably damaging	Het
Tprg1	A	T	16: 25,136,011 (GRCm39)	M1L	possibly damaging	Het
Tsen2	A	G	6: 115,536,556 (GRCm39)	Y104C	probably damaging	Het
Ttc6	A	G	12: 57,720,590 (GRCm39)	Y952C	probably damaging	Het
Umod	A	T	7: 119,070,650 (GRCm39)	I414N	probably damaging	Het
Usp10	G	T	8: 120,673,828 (GRCm39)	V398L	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,854 (GRCm39)	I736F	possibly damaging	Het
Vmn2r65	C	A	7: 84,592,869 (GRCm39)	G446V	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Yars2	A	G	16: 16,127,335 (GRCm39)	I467V	probably benign	Het
Ykt6	A	G	11: 5,909,338 (GRCm39)	E49G	possibly damaging	Het
Zan	T	A	5: 137,442,192 (GRCm39)	M1907L	unknown	Het
Zdhhc2	T	C	8: 40,917,277 (GRCm39)	S225P	probably damaging	Het
Zfc3h1	A	T	10: 115,267,262 (GRCm39)		probably benign	Het

Other mutations in Cenpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0531:Cenpa	UTSW	5	30,829,837 (GRCm39)	missense	possibly damaging	0.67
R5638:Cenpa	UTSW	5	30,830,736 (GRCm39)	missense	probably damaging	1.00
R6923:Cenpa	UTSW	5	30,829,806 (GRCm39)	critical splice acceptor site	probably null
R7438:Cenpa	UTSW	5	30,824,292 (GRCm39)	unclassified	probably benign
R8224:Cenpa	UTSW	5	30,830,699 (GRCm39)	intron	probably benign
R9187:Cenpa	UTSW	5	30,824,380 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTTCCTAAGCTCCTGGGAG -3'
(R):5'- AGAACACTGACGTGGCTGAG -3'

Sequencing Primer
(F):5'- TAAGCTCCTGGGAGTCCGTG -3'
(R):5'- CAAGGTGGATCCAGGAGCC -3'

Posted On

2017-02-28