Mutagenetix > Incidental Mutation

Incidental Mutation 'R5119:Cspp1'

392768

Institutional Source

Beutler Lab

Gene Symbol

Cspp1

Ensembl Gene

ENSMUSG00000056763

Gene Name

centrosome and spindle pole associated protein 1

Synonyms

2310020J12Rik, 4930413O22Rik

MMRRC Submission

042707-MU

Accession Numbers

Essential gene?

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

Stock #

R5119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10108212-10206993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10196688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 900 (N900K)

Ref Sequence

ENSEMBL: ENSMUSP00000139775 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071087
AA Change: N955K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: N955K

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 damaging
Transcript: ENSMUST00000186294
AA Change: N900K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: N900K

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

possibly damaging
Transcript: ENSMUST00000187226
AA Change: N187K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763
AA Change: N187K

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

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (127/127)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	C	A	2: 170,421,505 (GRCm39)	G125V	unknown	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts5	T	A	16: 85,696,466 (GRCm39)	R230S	probably benign	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Adgrv1	T	C	13: 81,567,546 (GRCm39)	Y5209C	possibly damaging	Het
Ahnak	G	T	19: 8,991,008 (GRCm39)	M4097I	probably benign	Het
Akap13	A	G	7: 75,337,000 (GRCm39)	T820A	probably damaging	Het
Als2cl	C	T	9: 110,719,887 (GRCm39)	R492C	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Arid4b	G	A	13: 14,338,866 (GRCm39)	V446M	probably benign	Het
Armc2	A	G	10: 41,798,144 (GRCm39)	L794P	probably damaging	Het
Atp6v0a1	T	A	11: 100,911,341 (GRCm39)	M80K	probably benign	Het
Aup1	T	C	6: 83,032,115 (GRCm39)	V94A	probably damaging	Het
Bank1	A	T	3: 135,940,443 (GRCm39)	I180K	possibly damaging	Het
Becn1	A	G	11: 101,182,221 (GRCm39)	L116P	probably damaging	Het
Bsg	A	G	10: 79,546,057 (GRCm39)		probably benign	Het
Camk2a	A	T	18: 61,076,208 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,914,603 (GRCm39)	E706G	possibly damaging	Het
Cdk8	A	T	5: 146,220,437 (GRCm39)		probably null	Het
Cpne4	A	G	9: 104,778,720 (GRCm39)		probably null	Het
Cyp2c38	C	A	19: 39,449,065 (GRCm39)	G96V	probably damaging	Het
Dhx40	A	G	11: 86,667,462 (GRCm39)	I261T	probably damaging	Het
Dnah10	T	C	5: 124,856,322 (GRCm39)	F2038L	probably damaging	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Dtl	G	T	1: 191,273,618 (GRCm39)	A430D	probably damaging	Het
Ece2	T	C	16: 20,437,381 (GRCm39)	L241P	probably damaging	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Eppin	T	C	2: 164,431,371 (GRCm39)	Y85C	probably damaging	Het
Fam171a2	G	A	11: 102,329,559 (GRCm39)	A400V	probably damaging	Het
Fem1c	A	C	18: 46,639,436 (GRCm39)	C189G	probably damaging	Het
Frmd4b	A	G	6: 97,277,275 (GRCm39)	V560A	probably benign	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Gabbr1	T	C	17: 37,359,330 (GRCm39)	S102P	probably damaging	Het
Garin3	G	A	11: 46,297,863 (GRCm39)	G389D	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Gm30275	T	C	14: 54,312,978 (GRCm39)		probably benign	Het
Gm9762	A	T	3: 78,873,707 (GRCm39)		noncoding transcript	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Gps2	A	G	11: 69,805,617 (GRCm39)	K45R	probably benign	Het
Gramd2a	A	G	9: 59,621,603 (GRCm39)		probably benign	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Ifi204	A	T	1: 173,583,234 (GRCm39)	I328N	probably damaging	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,442,949 (GRCm39)	I15T	probably benign	Het
Il23r	A	T	6: 67,443,300 (GRCm39)	C268S	probably damaging	Het
Irx4	A	G	13: 73,417,040 (GRCm39)	T479A	probably benign	Het
Kcnk7	G	A	19: 5,756,352 (GRCm39)	V193I	probably benign	Het
Kcnt1	G	T	2: 25,799,334 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 64,994,902 (GRCm39)	C885G	probably benign	Het
Kif21b	C	A	1: 136,090,838 (GRCm39)	D1215E	probably benign	Het
Klhdc2	A	G	12: 69,343,736 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,924,050 (GRCm39)	N486S	probably benign	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrps28	C	T	3: 8,988,756 (GRCm39)	G34D	possibly damaging	Het
Myh8	A	G	11: 67,189,184 (GRCm39)	E1120G	probably damaging	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nlgn1	A	T	3: 25,487,958 (GRCm39)	D763E	probably damaging	Het
Or11g26	T	C	14: 50,752,966 (GRCm39)	F102L	probably benign	Het
Or13c7c	G	T	4: 43,836,433 (GRCm39)	A19D	probably benign	Het
Or1e17	A	T	11: 73,831,378 (GRCm39)	Y102F	possibly damaging	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or5b118	C	T	19: 13,448,910 (GRCm39)	T192I	probably benign	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcbp1	G	A	6: 86,501,897 (GRCm39)	A334V	probably damaging	Het
Pclaf	T	C	9: 65,798,062 (GRCm39)	V32A	probably benign	Het
Pga5	T	A	19: 10,654,053 (GRCm39)	H50L	probably benign	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Pik3ap1	C	T	19: 41,270,415 (GRCm39)	R758H	probably benign	Het
Plekha1	A	G	7: 130,507,094 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,278,141 (GRCm39)	N318K	possibly damaging	Het
Ppargc1b	G	A	18: 61,440,725 (GRCm39)	A731V	probably benign	Het
Pptc7	T	C	5: 122,451,844 (GRCm39)	V100A	possibly damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Prrc2c	T	C	1: 162,533,009 (GRCm39)		probably benign	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Ptpn3	A	G	4: 57,218,513 (GRCm39)	F650S	possibly damaging	Het
Ranbp17	A	T	11: 33,354,181 (GRCm39)	*577R	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Rgl2	T	A	17: 34,156,094 (GRCm39)	H727Q	probably benign	Het
Rhpn2	A	G	7: 35,070,549 (GRCm39)	T160A	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rxrb	T	C	17: 34,252,562 (GRCm39)	S50P	probably benign	Het
Scn4b	A	T	9: 45,059,056 (GRCm39)	E109V	probably damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Slc22a29	A	T	19: 8,195,194 (GRCm39)	V147D	probably damaging	Het
Slc4a4	A	T	5: 89,102,721 (GRCm39)	E53V	probably null	Het
Slx4	A	G	16: 3,819,063 (GRCm39)	S37P	possibly damaging	Het
Spag9	G	A	11: 94,013,548 (GRCm39)	G1127D	probably damaging	Het
Srek1	T	A	13: 103,889,064 (GRCm39)		probably benign	Het
Supt5	G	T	7: 28,015,795 (GRCm39)	P849Q	probably damaging	Het
Tex14	T	C	11: 87,324,639 (GRCm39)	S2P	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tll2	A	G	19: 41,118,948 (GRCm39)	V260A	possibly damaging	Het
Tlr6	A	G	5: 65,111,644 (GRCm39)	V421A	probably benign	Het
Tmc3	T	G	7: 83,264,218 (GRCm39)	C649G	probably damaging	Het
Tnn	A	G	1: 159,948,122 (GRCm39)	W864R	probably damaging	Het
Tsc2	A	C	17: 24,822,254 (GRCm39)	V1095G	probably benign	Het
Vmn1r124	C	T	7: 20,994,172 (GRCm39)	G124D	probably damaging	Het
Vmn2r116	T	C	17: 23,606,138 (GRCm39)	V350A	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wrap53	T	A	11: 69,454,758 (GRCm39)	M204L	possibly damaging	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het
Zfp687	A	T	3: 94,918,987 (GRCm39)	S262T	probably benign	Het
Zfp831	T	A	2: 174,547,103 (GRCm39)	S1429T	probably benign	Het
Znfx1	G	A	2: 166,907,307 (GRCm39)		probably benign	Het

Other mutations in Cspp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Cspp1	APN	1	10,182,776 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACTCTGGTCAAAGATGCCAAG -3'
(R):5'- GACATTACAAAGCCATGAAATTGAAG -3'

Sequencing Primer
(F):5'- GAACAGAATGTCAGCTCGTTTCC -3'
(R):5'- TACAAAGCCATGAAATTGAAGAACAC -3'

Posted On

2016-06-15