Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01397:Cenpp'

79492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cenpp

Ensembl Gene

ENSMUSG00000021391

Gene Name

centromere protein P

Synonyms

1700022C02Rik, 4921518G09Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

IGL01397

Quality Score

Status

Chromosome

Chromosomal Location

49617499-49806261 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49794759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 136 (D136G)

Ref Sequence

ENSEMBL: ENSMUSP00000021818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818]

AlphaFold

Q9CZ92

Predicted Effect

probably damaging
Transcript: ENSMUST00000021818
AA Change: D136G

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

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
AA Change: D136G

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Meta Mutation Damage Score

0.2046

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	C	2: 127,876,811 (GRCm39)	T436P	possibly damaging	Het
Afap1	T	A	5: 36,126,052 (GRCm39)	V349E	probably damaging	Het
Arfgef1	C	T	1: 10,229,796 (GRCm39)	V1302I	probably benign	Het
Atp11a	T	A	8: 12,862,321 (GRCm39)	W58R	probably damaging	Het
Brpf3	A	T	17: 29,036,606 (GRCm39)	K670N	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cep85	T	C	4: 133,883,517 (GRCm39)	E124G	probably damaging	Het
Crybb3	T	C	5: 113,227,701 (GRCm39)	E40G	probably damaging	Het
Dennd2d	G	T	3: 106,394,365 (GRCm39)		probably null	Het
Dhx34	A	G	7: 15,944,468 (GRCm39)	L582P	probably damaging	Het
Dst	A	G	1: 34,296,825 (GRCm39)	K5738R	probably damaging	Het
Eif4g1	T	A	16: 20,498,425 (GRCm39)	L328Q	probably damaging	Het
Eya4	T	C	10: 23,015,897 (GRCm39)	K357E	probably benign	Het
F8	A	G	X: 74,423,145 (GRCm39)	S25P	probably benign	Het
Fgd2	A	G	17: 29,586,949 (GRCm39)	E293G	probably damaging	Het
Foxi1	T	A	11: 34,157,599 (GRCm39)	Q142L	probably damaging	Het
Gfm1	A	G	3: 67,350,991 (GRCm39)	E316G	probably benign	Het
Glb1l3	C	T	9: 26,736,491 (GRCm39)	D524N	probably benign	Het
Heatr5a	A	T	12: 51,941,152 (GRCm39)	V1366D	possibly damaging	Het
Idh1	T	C	1: 65,207,754 (GRCm39)	T142A	possibly damaging	Het
Lamc1	C	A	1: 153,126,880 (GRCm39)	G422V	probably damaging	Het
Lars1	A	T	18: 42,361,094 (GRCm39)	H691Q	probably damaging	Het
Ltbp2	T	C	12: 84,837,042 (GRCm39)	Y1259C	probably damaging	Het
Muc19	T	A	15: 91,778,498 (GRCm39)		noncoding transcript	Het
Nphs1	A	G	7: 30,186,089 (GRCm39)	D1240G	probably benign	Het
Or3a1b	T	A	11: 74,012,590 (GRCm39)	N158K	probably damaging	Het
Or5w1	A	T	2: 87,487,249 (GRCm39)	N5K	probably damaging	Het
Pabir2	G	A	X: 52,349,088 (GRCm39)	T121I	probably damaging	Het
Parp14	T	C	16: 35,679,098 (GRCm39)	N290S	probably benign	Het
Pex5l	G	A	3: 33,006,746 (GRCm39)	T541I	probably damaging	Het
Plch1	A	C	3: 63,639,150 (GRCm39)		probably null	Het
Ppp4r3b	C	T	11: 29,163,594 (GRCm39)	A722V	probably benign	Het
Ptges3	T	C	10: 127,906,069 (GRCm39)	S85P	probably benign	Het
R3hdm2	C	T	10: 127,294,719 (GRCm39)	R201W	probably damaging	Het
Rcan2	C	A	17: 44,147,359 (GRCm39)	Q66K	possibly damaging	Het
Skint4	A	G	4: 111,977,207 (GRCm39)	N199S	possibly damaging	Het
Smc4	A	G	3: 68,938,877 (GRCm39)	T951A	probably benign	Het
Smg1	A	T	7: 117,762,444 (GRCm39)		probably benign	Het
Snx30	T	C	4: 59,894,526 (GRCm39)	V368A	probably benign	Het
Spata31d1a	C	T	13: 59,849,552 (GRCm39)	A859T	probably damaging	Het
Tg	G	A	15: 66,567,941 (GRCm39)		probably benign	Het
Tmem132b	T	C	5: 125,775,792 (GRCm39)	V422A	probably benign	Het
Tnxb	T	C	17: 34,933,647 (GRCm39)	S2356P	probably damaging	Het
Vmn1r122	A	G	7: 20,867,707 (GRCm39)	V116A	possibly damaging	Het
Washc2	A	G	6: 116,224,959 (GRCm39)	D683G	probably benign	Het
Wdr35	C	A	12: 9,058,550 (GRCm39)	T580K	probably benign	Het
Wwc2	T	A	8: 48,321,311 (GRCm39)	N601I	unknown	Het

Other mutations in Cenpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Cenpp	APN	13	49,801,132 (GRCm39)	critical splice acceptor site	probably null
IGL01323:Cenpp	APN	13	49,801,118 (GRCm39)	missense	probably damaging	1.00
IGL01553:Cenpp	APN	13	49,618,252 (GRCm39)	missense	probably damaging	0.99
IGL02489:Cenpp	APN	13	49,803,594 (GRCm39)	splice site	probably null
IGL03024:Cenpp	APN	13	49,617,730 (GRCm39)	missense	probably benign	0.16
R0218:Cenpp	UTSW	13	49,801,108 (GRCm39)	missense	possibly damaging	0.57
R0660:Cenpp	UTSW	13	49,618,173 (GRCm39)	missense	probably benign	0.00
R1868:Cenpp	UTSW	13	49,794,759 (GRCm39)	missense	probably damaging	1.00
R4097:Cenpp	UTSW	13	49,647,265 (GRCm39)	missense	possibly damaging	0.88
R4377:Cenpp	UTSW	13	49,647,907 (GRCm39)	utr 3 prime	probably benign
R4595:Cenpp	UTSW	13	49,794,710 (GRCm39)	missense	probably benign	0.09
R5173:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5174:Cenpp	UTSW	13	49,618,258 (GRCm39)	frame shift	probably null
R5953:Cenpp	UTSW	13	49,806,161 (GRCm39)	missense	probably damaging	0.99
R7054:Cenpp	UTSW	13	49,619,233 (GRCm39)	missense	probably damaging	0.97
R8452:Cenpp	UTSW	13	49,683,887 (GRCm39)	splice site	probably null
R9602:Cenpp	UTSW	13	49,801,049 (GRCm39)	missense	probably damaging	1.00
RF023:Cenpp	UTSW	13	49,803,620 (GRCm39)	missense	probably benign	0.00
Z1088:Cenpp	UTSW	13	49,801,134 (GRCm39)	splice site	probably null

Posted On

2013-11-05