Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Cspp1'

555286

Institutional Source

Beutler Lab

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: 0.186) question?

Stock #

PIT4453001 (G1)

Quality Score

207.009

Status

Not validated

Chromosome

Chromosomal Location

10037987-10136768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10074872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 298 (S298R)

Ref Sequence

ENSEMBL: ENSMUSP00000068804 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071087
AA Change: S298R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: S298R

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

possibly damaging
Transcript: ENSMUST00000186294
AA Change: S294R

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

SMART Domains

Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: S294R

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: ENSMUST00000188449

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	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
IGL02983:Cspp1	APN	1	10127525	missense	probably benign	0.34
IGL03352:Cspp1	APN	1	10047437	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- CTAGCTAGCAGATCATATTTGAAGC -3'
(R):5'- TGAAAGCCCTGCCAAACTTTAC -3'

Sequencing Primer
(F):5'- CTAGCAGATCATATTTGAAGCAAATC -3'
(R):5'- TCACTATAAAGGCGGCTTGC -3'

Posted On

2019-06-07