Mutagenetix > Incidental Mutation

Incidental Mutation 'R4973:Cspp1'

382336

Institutional Source

Beutler Lab

Gene Symbol

Cspp1

Ensembl Gene

ENSMUSG00000056763

Gene Name

centrosome and spindle pole associated protein 1

Synonyms

2310020J12Rik, 4930413O22Rik

MMRRC Submission

042568-MU

Accession Numbers

Essential gene?

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

Stock #

R4973 (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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.9%

Validation Efficiency

97% (115/118)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Ankrd27	A	G	7: 35,332,417 (GRCm39)	D848G	probably benign	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atp2c2	A	G	8: 120,481,002 (GRCm39)	T797A	probably benign	Het
Ccdc121rt1	A	T	1: 181,338,829 (GRCm39)	V41E	possibly damaging	Het
Ccdc122	A	T	14: 77,305,381 (GRCm39)	I12F	possibly damaging	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Cdk5r2	A	G	1: 74,894,831 (GRCm39)	D192G	probably damaging	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
Clock	A	G	5: 76,402,258 (GRCm39)	V134A	possibly damaging	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Csf1r	A	T	18: 61,262,119 (GRCm39)	I792F	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D5Ertd579e	A	G	5: 36,830,249 (GRCm39)	V25A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Ddx5	C	A	11: 106,675,833 (GRCm39)	V286L	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dnhd1	T	G	7: 105,362,840 (GRCm39)	L3801V	probably benign	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Ercc6	A	G	14: 32,296,859 (GRCm39)	D1283G	probably damaging	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fanca	G	A	8: 124,035,261 (GRCm39)	T228M	probably damaging	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo16	G	T	14: 65,558,746 (GRCm39)	A302S	probably benign	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm6327	T	C	16: 12,578,845 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,735,462 (GRCm39)	N411K	possibly damaging	Het
Golga1	A	T	2: 38,929,118 (GRCm39)	D308E	probably damaging	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,459,037 (GRCm39)	T501S	probably benign	Het
Helq	A	G	5: 100,940,737 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,234,108 (GRCm39)	H291R	probably benign	Het
Htt	A	T	5: 34,970,367 (GRCm39)	D505V	probably damaging	Het
Ildr1	C	T	16: 36,528,660 (GRCm39)	T35I	probably benign	Het
Iqgap2	A	G	13: 95,794,305 (GRCm39)		probably null	Het
Kansl1	C	T	11: 104,315,147 (GRCm39)	R297H	probably damaging	Het
Kat2b-ps	T	C	5: 93,539,644 (GRCm39)		noncoding transcript	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kcnt2	A	T	1: 140,537,388 (GRCm39)	S1116C	probably damaging	Het
Krt9	C	T	11: 100,079,538 (GRCm39)	G618E	unknown	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mdn1	A	G	4: 32,734,418 (GRCm39)	D3275G	probably benign	Het
Mindy2	A	T	9: 70,512,453 (GRCm39)	V599E	possibly damaging	Het
Nelfa	A	G	5: 34,059,162 (GRCm39)	V231A	probably benign	Het
Nepro	T	C	16: 44,555,156 (GRCm39)	Y411H	probably benign	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Nkx1-1	G	T	5: 33,588,410 (GRCm39)	Q293K	possibly damaging	Het
Nphp3	C	T	9: 103,909,198 (GRCm39)	H803Y	probably benign	Het
Obscn	A	G	11: 59,023,292 (GRCm39)	V695A	probably damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or12d15	G	A	17: 37,693,910 (GRCm39)	A151T	probably damaging	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or2t48	T	C	11: 58,419,903 (GRCm39)	E303G	probably benign	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Or8d2b	A	G	9: 38,789,400 (GRCm39)	*309W	probably null	Het
Orai3	T	A	7: 127,373,348 (GRCm39)	L283Q	probably damaging	Het
Pcdhb13	A	T	18: 37,576,237 (GRCm39)	D205V	probably benign	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pgm3	A	G	9: 86,444,732 (GRCm39)	S268P	probably benign	Het
Piezo2	A	T	18: 63,207,751 (GRCm39)	I1420N	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Psmd13	T	A	7: 140,466,766 (GRCm39)	Y117*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Pum1	T	G	4: 130,396,448 (GRCm39)	S68A	probably benign	Het
Rnf167	T	A	11: 70,540,701 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,318,983 (GRCm39)	V1148A	possibly damaging	Het
Rnf216	T	C	5: 143,076,071 (GRCm39)	E271G	probably benign	Het
Ros1	A	T	10: 52,031,087 (GRCm39)	I506N	probably damaging	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rpl41	A	C	10: 128,384,576 (GRCm39)		probably benign	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Sacs	G	T	14: 61,450,571 (GRCm39)	A4206S	probably damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,037,630 (GRCm39)		probably benign	Het
Slc39a3	A	T	10: 80,866,796 (GRCm39)	W317R	probably damaging	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Snrpd1	T	C	18: 10,626,835 (GRCm39)	V34A	probably benign	Het
Spire2	T	A	8: 124,083,583 (GRCm39)	I189N	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Taar7b	T	A	10: 23,876,243 (GRCm39)	F136Y	probably benign	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tcp11l2	A	G	10: 84,427,027 (GRCm39)	I164V	probably damaging	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Tns4	G	T	11: 98,966,039 (GRCm39)	P448Q	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Usp45	A	T	4: 21,815,372 (GRCm39)	T362S	probably damaging	Het
Vcan	A	T	13: 89,836,961 (GRCm39)	M2861K	probably benign	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbtb34	T	A	2: 33,301,626 (GRCm39)	Q305L	probably benign	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp804b	A	T	5: 6,821,198 (GRCm39)	S622T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	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
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
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'- ACTCTGGTCAAAGATGCCAAGTT -3'
(R):5'- AGACATTACAAAGCCATGAAATTGA -3'

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

Posted On

2016-04-27