Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02983:Cspp1'

406627

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

Is this an essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

10037987-10136768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10127525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 227 (K227R)

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
AA Change: K995R

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: K995R

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: ENSMUST00000128164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136898

Predicted Effect

probably benign
Transcript: ENSMUST00000186294
AA Change: K940R

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: K940R

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
AA Change: K227R

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763
AA Change: K227R

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Brip1	T	C	11: 86,139,124	I565V	probably benign	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,967,567		probably null	Het
Crat	A	C	2: 30,404,526		probably null	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,555	D86A	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Pramef20	T	C	4: 144,373,127	E356G	probably benign	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,957,049	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	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
IGL02229:Cspp1	APN	1	10083556	missense	probably damaging	1.00
IGL02397:Cspp1	APN	1	10108465	missense	possibly damaging	0.66
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
Z1088:Cspp1	UTSW	1	10083546	missense	possibly damaging	0.81
Z1177:Cspp1	UTSW	1	10095878	frame shift	probably null

Posted On

2016-08-02