Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Cspp1'

392972

Institutional Source

Beutler Lab

Gene Symbol

Cspp1

Ensembl Gene

ENSMUSG00000056763

Gene Name

centrosome and spindle pole associated protein 1

Synonyms

2310020J12Rik, 4930413O22Rik

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	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
R5119: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'- ACTCTGGTCAAAGATGCCAAGT -3'
(R):5'- AGACATTACAAAGCCATGAAATTGAA -3'

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

Posted On

2016-06-15