Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02229:Cspp1'

285427

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: 0.153) question?

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

10037987-10136768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10083556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 397 (S397P)

Ref Sequence

ENSEMBL: ENSMUSP00000068804 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071087
AA Change: S397P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: S397P

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: ENSMUST00000123261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153804

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186294
AA Change: S393P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: S393P

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

noncoding transcript
Transcript: ENSMUST00000188249

Predicted Effect

unknown
Transcript: ENSMUST00000188449
AA Change: S85P

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,353	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753	I591V	probably benign	Het
Cic	C	A	7: 25,290,950	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
D130043K22Rik	T	C	13: 24,875,924	Y593H	probably damaging	Het
Dck	A	G	5: 88,774,105	Y142C	probably damaging	Het
Eea1	A	T	10: 96,018,184	E568V	probably damaging	Het
Gabra3	A	G	X: 72,501,077		probably null	Het
Gucy2f	A	G	X: 142,179,988	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428		probably benign	Het
Myo18b	A	G	5: 112,878,110	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800		probably benign	Het
Rab3gap2	A	G	1: 185,259,383	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169		probably benign	Het

Other mutations in Cspp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Cspp1	APN	1	10112551	unclassified	probably benign
IGL01070:Cspp1	APN	1	10088145	missense	probably damaging	0.99
IGL01384:Cspp1	APN	1	10116680	missense	probably damaging	1.00
IGL01400:Cspp1	APN	1	10085931	missense	probably damaging	0.99
IGL01893:Cspp1	APN	1	10134141	splice site	probably null
IGL01909:Cspp1	APN	1	10066661	missense	probably benign	0.01
IGL02397:Cspp1	APN	1	10108465	missense	possibly damaging	0.66
IGL02983:Cspp1	APN	1	10127525	missense	probably benign	0.34
IGL03352:Cspp1	APN	1	10047437	missense	possibly damaging	0.93
PIT4453001:Cspp1	UTSW	1	10074872	missense	possibly damaging	0.83
R0312:Cspp1	UTSW	1	10058829	splice site	probably benign
R0782:Cspp1	UTSW	1	10129974	splice site	probably benign
R0931:Cspp1	UTSW	1	10104286	missense	probably damaging	0.98
R1499:Cspp1	UTSW	1	10088966	splice site	probably null
R1553:Cspp1	UTSW	1	10085897	missense	possibly damaging	0.94
R1613:Cspp1	UTSW	1	10133241	missense	probably damaging	1.00
R1644:Cspp1	UTSW	1	10126438	missense	probably damaging	0.99
R2042:Cspp1	UTSW	1	10112538	missense	probably damaging	0.98
R2090:Cspp1	UTSW	1	10090268	missense	possibly damaging	0.89
R2178:Cspp1	UTSW	1	10104246	missense	possibly damaging	0.81
R2247:Cspp1	UTSW	1	10066460	missense	possibly damaging	0.87
R2680:Cspp1	UTSW	1	10104305	missense	probably damaging	1.00
R3803:Cspp1	UTSW	1	10126373	missense	probably damaging	1.00
R4520:Cspp1	UTSW	1	10134227	missense	probably benign	0.11
R4531:Cspp1	UTSW	1	10066847	intron	probably benign
R4906:Cspp1	UTSW	1	10082328	missense	possibly damaging	0.82
R4960:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R4973:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R4976:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R4978:Cspp1	UTSW	1	10083517	missense	possibly damaging	0.66
R4979:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R4981:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R4983:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R5032:Cspp1	UTSW	1	10066519	missense	probably benign	0.07
R5057:Cspp1	UTSW	1	10074961	splice site	probably benign
R5081:Cspp1	UTSW	1	10047466	missense	possibly damaging	0.57
R5119:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R5121:Cspp1	UTSW	1	10126463	missense	probably damaging	1.00
R5146:Cspp1	UTSW	1	10074876	nonsense	probably null
R5373:Cspp1	UTSW	1	10134126	missense	probably damaging	1.00
R5374:Cspp1	UTSW	1	10134126	missense	probably damaging	1.00
R6230:Cspp1	UTSW	1	10077197	missense	probably benign	0.01
R6291:Cspp1	UTSW	1	10064334	missense	probably damaging	0.97
R6382:Cspp1	UTSW	1	10083475	splice site	probably null
R7135:Cspp1	UTSW	1	10088936	missense	possibly damaging	0.92
R7388:Cspp1	UTSW	1	10065347	nonsense	probably null
R7647:Cspp1	UTSW	1	10135937	missense	probably benign	0.26
R7722:Cspp1	UTSW	1	10074901	missense	probably benign	0.00
R8039:Cspp1	UTSW	1	10113013	missense	probably benign	0.02
R8087:Cspp1	UTSW	1	10104264	missense	possibly damaging	0.81
R8339:Cspp1	UTSW	1	10113667	missense	probably damaging	1.00
R8719:Cspp1	UTSW	1	10090291	missense	possibly damaging	0.83
R8774:Cspp1	UTSW	1	10112914	missense	possibly damaging	0.46
R8774-TAIL:Cspp1	UTSW	1	10112914	missense	possibly damaging	0.46
R8979:Cspp1	UTSW	1	10064405	missense	probably benign	0.27
R9068:Cspp1	UTSW	1	10077244	critical splice donor site	probably null
R9071:Cspp1	UTSW	1	10088896	missense	possibly damaging	0.66
R9080:Cspp1	UTSW	1	10113694	missense	probably benign	0.25
R9139:Cspp1	UTSW	1	10116650	missense	probably damaging	0.99
R9630:Cspp1	UTSW	1	10038067	start gained	probably benign
R9685:Cspp1	UTSW	1	10126414	missense	probably benign	0.35
Z1088:Cspp1	UTSW	1	10083546	missense	possibly damaging	0.81
Z1177:Cspp1	UTSW	1	10095878	frame shift	probably null

Posted On

2015-04-16