Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00426:Cspp1'

7533

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cspp1

Ensembl Gene

ENSMUSG00000056763

Gene Name

centrosome and spindle pole associated protein 1

Synonyms

2310020J12Rik, 4930413O22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL00426

Quality Score

Status

Chromosome

Chromosomal Location

10108212-10206993 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 10182776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000186294] [ENSMUST00000187226]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071087

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
coiled coil region	349	383	N/A	INTRINSIC
low complexity region	426	447	N/A	INTRINSIC
low complexity region	465	484	N/A	INTRINSIC
coiled coil region	568	610	N/A	INTRINSIC
Pfam:CCDC66	661	810	2e-11	PFAM
coiled coil region	866	903	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185422

Predicted Effect

probably benign
Transcript: ENSMUST00000186294

SMART Domains

Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
low complexity region	266	281	N/A	INTRINSIC
coiled coil region	345	379	N/A	INTRINSIC
low complexity region	422	443	N/A	INTRINSIC
low complexity region	461	480	N/A	INTRINSIC
SCOP:d1eq1a_	567	748	4e-3	SMART
coiled coil region	811	848	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187226

SMART Domains

Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
coiled coil region	98	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190625

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,278 (GRCm39)	E313K	probably damaging	Het
Aadacl2fm2	T	A	3: 59,659,542 (GRCm39)	L332I	possibly damaging	Het
Adgrl2	A	G	3: 148,571,244 (GRCm39)	V130A	probably damaging	Het
Arhgef28	G	A	13: 98,124,785 (GRCm39)	A499V	probably benign	Het
Ceacam18	C	T	7: 43,288,780 (GRCm39)	T177I	probably benign	Het
Cyp2j7	A	T	4: 96,115,749 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,115,750 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,656,551 (GRCm39)	F821L	probably damaging	Het
Lrig3	A	T	10: 125,808,006 (GRCm39)	R85*	probably null	Het
Mcf2l	A	G	8: 13,034,910 (GRCm39)	D106G	probably damaging	Het
Mdn1	T	C	4: 32,719,214 (GRCm39)	V2259A	possibly damaging	Het
Mmp16	C	T	4: 18,011,784 (GRCm39)	P233L	probably benign	Het
Mrpl27	A	G	11: 94,550,523 (GRCm39)	N110S	probably benign	Het
Myom2	T	C	8: 15,119,502 (GRCm39)	M131T	probably benign	Het
Myzap	T	C	9: 71,462,953 (GRCm39)	T198A	probably benign	Het
Nek8	T	C	11: 78,058,653 (GRCm39)	Q549R	probably damaging	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nup155	T	C	15: 8,186,278 (GRCm39)	*1347Q	probably null	Het
Pkd2l1	C	T	19: 44,144,044 (GRCm39)	R343H	probably benign	Het
Ppfibp2	T	A	7: 107,308,012 (GRCm39)	L215H	probably damaging	Het
Ralgds	T	C	2: 28,442,230 (GRCm39)	L137P	probably damaging	Het
Rasa2	C	T	9: 96,426,913 (GRCm39)	D752N	probably damaging	Het
Spg11	T	C	2: 121,896,041 (GRCm39)	K1726E	probably damaging	Het
St6gal1	G	A	16: 23,175,142 (GRCm39)		probably benign	Het
Tmem183a	A	G	1: 134,277,882 (GRCm39)	L294P	probably damaging	Het
Trav19	T	C	14: 54,083,141 (GRCm39)	L72P	probably damaging	Het
Vapa	T	C	17: 65,900,476 (GRCm39)	T99A	possibly damaging	Het

Other mutations in Cspp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01070:Cspp1	APN	1	10,158,370 (GRCm39)	missense	probably damaging	0.99
IGL01384:Cspp1	APN	1	10,186,905 (GRCm39)	missense	probably damaging	1.00
IGL01400:Cspp1	APN	1	10,156,156 (GRCm39)	missense	probably damaging	0.99
IGL01893:Cspp1	APN	1	10,204,366 (GRCm39)	splice site	probably null
IGL01909:Cspp1	APN	1	10,136,886 (GRCm39)	missense	probably benign	0.01
IGL02229:Cspp1	APN	1	10,153,781 (GRCm39)	missense	probably damaging	1.00
IGL02397:Cspp1	APN	1	10,178,690 (GRCm39)	missense	possibly damaging	0.66
IGL02983:Cspp1	APN	1	10,197,750 (GRCm39)	missense	probably benign	0.34
IGL03352:Cspp1	APN	1	10,117,662 (GRCm39)	missense	possibly damaging	0.93
PIT4453001:Cspp1	UTSW	1	10,145,097 (GRCm39)	missense	possibly damaging	0.83
R0312:Cspp1	UTSW	1	10,129,054 (GRCm39)	splice site	probably benign
R0782:Cspp1	UTSW	1	10,200,199 (GRCm39)	splice site	probably benign
R0931:Cspp1	UTSW	1	10,174,511 (GRCm39)	missense	probably damaging	0.98
R1499:Cspp1	UTSW	1	10,159,191 (GRCm39)	splice site	probably null
R1553:Cspp1	UTSW	1	10,156,122 (GRCm39)	missense	possibly damaging	0.94
R1613:Cspp1	UTSW	1	10,203,466 (GRCm39)	missense	probably damaging	1.00
R1644:Cspp1	UTSW	1	10,196,663 (GRCm39)	missense	probably damaging	0.99
R2042:Cspp1	UTSW	1	10,182,763 (GRCm39)	missense	probably damaging	0.98
R2090:Cspp1	UTSW	1	10,160,493 (GRCm39)	missense	possibly damaging	0.89
R2178:Cspp1	UTSW	1	10,174,471 (GRCm39)	missense	possibly damaging	0.81
R2247:Cspp1	UTSW	1	10,136,685 (GRCm39)	missense	possibly damaging	0.87
R2680:Cspp1	UTSW	1	10,174,530 (GRCm39)	missense	probably damaging	1.00
R3803:Cspp1	UTSW	1	10,196,598 (GRCm39)	missense	probably damaging	1.00
R4520:Cspp1	UTSW	1	10,204,452 (GRCm39)	missense	probably benign	0.11
R4531:Cspp1	UTSW	1	10,137,072 (GRCm39)	intron	probably benign
R4906:Cspp1	UTSW	1	10,152,553 (GRCm39)	missense	possibly damaging	0.82
R4960:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R4973:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R4976:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R4978:Cspp1	UTSW	1	10,153,742 (GRCm39)	missense	possibly damaging	0.66
R4979:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R4981:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R4983:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R5032:Cspp1	UTSW	1	10,136,744 (GRCm39)	missense	probably benign	0.07
R5057:Cspp1	UTSW	1	10,145,186 (GRCm39)	splice site	probably benign
R5081:Cspp1	UTSW	1	10,117,691 (GRCm39)	missense	possibly damaging	0.57
R5119:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R5121:Cspp1	UTSW	1	10,196,688 (GRCm39)	missense	probably damaging	1.00
R5146:Cspp1	UTSW	1	10,145,101 (GRCm39)	nonsense	probably null
R5373:Cspp1	UTSW	1	10,204,351 (GRCm39)	missense	probably damaging	1.00
R5374:Cspp1	UTSW	1	10,204,351 (GRCm39)	missense	probably damaging	1.00
R6230:Cspp1	UTSW	1	10,147,422 (GRCm39)	missense	probably benign	0.01
R6291:Cspp1	UTSW	1	10,134,559 (GRCm39)	missense	probably damaging	0.97
R6382:Cspp1	UTSW	1	10,153,700 (GRCm39)	splice site	probably null
R7135:Cspp1	UTSW	1	10,159,161 (GRCm39)	missense	possibly damaging	0.92
R7388:Cspp1	UTSW	1	10,135,572 (GRCm39)	nonsense	probably null
R7647:Cspp1	UTSW	1	10,206,162 (GRCm39)	missense	probably benign	0.26
R7722:Cspp1	UTSW	1	10,145,126 (GRCm39)	missense	probably benign	0.00
R8039:Cspp1	UTSW	1	10,183,238 (GRCm39)	missense	probably benign	0.02
R8087:Cspp1	UTSW	1	10,174,489 (GRCm39)	missense	possibly damaging	0.81
R8339:Cspp1	UTSW	1	10,183,892 (GRCm39)	missense	probably damaging	1.00
R8719:Cspp1	UTSW	1	10,160,516 (GRCm39)	missense	possibly damaging	0.83
R8774:Cspp1	UTSW	1	10,183,139 (GRCm39)	missense	possibly damaging	0.46
R8774-TAIL:Cspp1	UTSW	1	10,183,139 (GRCm39)	missense	possibly damaging	0.46
R8979:Cspp1	UTSW	1	10,134,630 (GRCm39)	missense	probably benign	0.27
R9068:Cspp1	UTSW	1	10,147,469 (GRCm39)	critical splice donor site	probably null
R9071:Cspp1	UTSW	1	10,159,121 (GRCm39)	missense	possibly damaging	0.66
R9080:Cspp1	UTSW	1	10,183,919 (GRCm39)	missense	probably benign	0.25
R9139:Cspp1	UTSW	1	10,186,875 (GRCm39)	missense	probably damaging	0.99
R9630:Cspp1	UTSW	1	10,108,292 (GRCm39)	start gained	probably benign
R9685:Cspp1	UTSW	1	10,196,639 (GRCm39)	missense	probably benign	0.35
Z1088:Cspp1	UTSW	1	10,153,771 (GRCm39)	missense	possibly damaging	0.81
Z1177:Cspp1	UTSW	1	10,166,103 (GRCm39)	frame shift	probably null

Posted On

2012-04-20