Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Clspn'

723630

Institutional Source

Beutler Lab

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9106 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 126577450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048391]

AlphaFold

Q80YR7

Predicted Effect

probably benign
Transcript: ENSMUST00000048391

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489

Domain	Start	End	E-Value	Type
low complexity region	64	75	N/A	INTRINSIC
coiled coil region	159	187	N/A	INTRINSIC
low complexity region	214	230	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	477	490	N/A	INTRINSIC
coiled coil region	599	626	N/A	INTRINSIC
low complexity region	632	658	N/A	INTRINSIC
low complexity region	664	681	N/A	INTRINSIC
low complexity region	732	753	N/A	INTRINSIC
low complexity region	793	812	N/A	INTRINSIC
low complexity region	968	975	N/A	INTRINSIC
coiled coil region	1001	1036	N/A	INTRINSIC
low complexity region	1045	1064	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126512

SMART Domains

Protein: ENSMUSP00000119437
Gene: ENSMUSG00000042489

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
low complexity region	108	147	N/A	INTRINSIC
low complexity region	153	170	N/A	INTRINSIC
low complexity region	221	242	N/A	INTRINSIC
low complexity region	282	301	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,328,870	V1138A	possibly damaging	Het
Ahctf1	C	A	1: 179,787,036	K394N	probably benign	Het
Armc4	A	T	18: 7,294,527	S29T	probably benign	Het
Banp	A	T	8: 121,978,633	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,478,295	E495G	probably benign	Het
Cfap69	T	C	5: 5,640,190	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,721,591		probably benign	Het
Clip1	T	A	5: 123,615,160	Q186L	probably damaging	Het
Cnst	A	G	1: 179,604,597	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,394,725	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,616,338	A238T	probably benign	Het
Dnah6	T	C	6: 73,144,769	Y1410C	probably damaging	Het
Elmsan1	T	C	12: 84,152,553	Y1040C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,946,226		probably benign	Het
Farp2	T	C	1: 93,561,188		probably null	Het
Galnt7	T	G	8: 57,532,695	D547A	probably damaging	Het
Gm1527	C	A	3: 28,902,291	D135E	probably damaging	Het
Gm597	T	C	1: 28,776,894	I686V	probably benign	Het
Grm5	T	C	7: 88,074,539	I679T	probably damaging	Het
Hectd4	C	A	5: 121,329,556	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,926,274	S218R	probably damaging	Het
Lrit1	G	A	14: 37,054,934	A4T	unknown	Het
Ly6f	G	T	15: 75,269,857	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,629,589		probably null	Het
Map2	T	A	1: 66,415,363	Y1137*	probably null	Het
Map4k3	C	A	17: 80,727,828	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,038,576	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,258,868	E219V	probably damaging	Het
Mos	T	G	4: 3,871,457	I120L	probably benign	Het
Mrgprb4	A	G	7: 48,198,931	V83A	probably benign	Het
Mrnip	A	G	11: 50,174,941	Q19R	probably damaging	Het
Myrip	T	C	9: 120,432,478	S386P	probably benign	Het
Mzt2	A	G	16: 15,848,704	W141R	probably benign	Het
Ncam1	A	G	9: 49,517,556	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,382,412	L630I	probably benign	Het
Olfr1201	A	G	2: 88,794,672	T97A	probably benign	Het
Olfr243	G	A	7: 103,717,530	C312Y	probably benign	Het
Olfr420	A	G	1: 174,158,803	Q10R	probably benign	Het
Olfr635	A	T	7: 103,979,374	M61L	probably damaging	Het
Oplah	C	A	15: 76,305,676	G150C	probably benign	Het
Patl1	A	G	19: 11,931,609	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,046,028		probably null	Het
Phldb2	T	C	16: 45,860,394	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,194,789	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,604,056	T763I	probably benign	Het
Prmt9	A	G	8: 77,549,729	D61G	probably benign	Het
Ptk2	T	C	15: 73,259,608	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,596,434	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,248,885	I843V		Het
Rnf19b	A	G	4: 129,084,147	E719G		Het
Sart3	T	C	5: 113,754,349	D363G	possibly damaging	Het
Sgo2a	C	A	1: 57,998,124	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,991,170	V450A	probably benign	Het
Slc8b1	T	A	5: 120,530,351	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,672,248	T475A	probably damaging	Het
Slfn3	T	C	11: 83,212,632	F110L	probably benign	Het
Ssr2	T	A	3: 88,587,962	Y175N	probably damaging	Het
Tagap	A	T	17: 7,931,448	N222Y	probably damaging	Het
Tecta	C	T	9: 42,367,183	V1010M	probably benign	Het
Trim36	A	T	18: 46,167,597	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,970,251	T425A	probably benign	Het
Usp47	T	C	7: 112,082,506	I508T	probably damaging	Het
Vit	G	A	17: 78,626,849	D627N	probably damaging	Het
Vmn2r59	A	T	7: 42,046,460	I176N	probably benign	Het

Other mutations in Clspn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Clspn	APN	4	126573178	missense	probably damaging	1.00
IGL02160:Clspn	APN	4	126581510	missense	probably benign	0.21
IGL02231:Clspn	APN	4	126559228	missense	probably damaging	0.98
IGL02281:Clspn	APN	4	126565770	missense	possibly damaging	0.90
IGL02368:Clspn	APN	4	126566107	missense	probably benign
IGL03149:Clspn	APN	4	126576502	splice site	probably benign
Durch	UTSW	4	126580962	missense	probably damaging	0.99
R0012:Clspn	UTSW	4	126564929	unclassified	probably benign
R0035:Clspn	UTSW	4	126565003	splice site	probably null
R0035:Clspn	UTSW	4	126565003	splice site	probably null
R0207:Clspn	UTSW	4	126590598	missense	possibly damaging	0.82
R0270:Clspn	UTSW	4	126573236	missense	probably damaging	1.00
R0825:Clspn	UTSW	4	126573130	splice site	probably benign
R1082:Clspn	UTSW	4	126577779	missense	possibly damaging	0.95
R1349:Clspn	UTSW	4	126563977	missense	probably benign
R1568:Clspn	UTSW	4	126581517	missense	probably benign	0.01
R1649:Clspn	UTSW	4	126566435	unclassified	probably benign
R1663:Clspn	UTSW	4	126565975	missense	probably benign	0.00
R2497:Clspn	UTSW	4	126572347	missense	possibly damaging	0.79
R3107:Clspn	UTSW	4	126591659	missense	probably benign	0.06
R3951:Clspn	UTSW	4	126576379	missense	probably damaging	1.00
R3953:Clspn	UTSW	4	126566437	frame shift	probably null
R3954:Clspn	UTSW	4	126566437	frame shift	probably null
R3956:Clspn	UTSW	4	126566437	frame shift	probably null
R4599:Clspn	UTSW	4	126581460	missense	probably benign	0.14
R4717:Clspn	UTSW	4	126560056	missense	probably damaging	1.00
R4853:Clspn	UTSW	4	126566555	missense	probably damaging	0.99
R4854:Clspn	UTSW	4	126575950	missense	probably benign
R4979:Clspn	UTSW	4	126578386	missense	probably damaging	1.00
R5363:Clspn	UTSW	4	126561786	missense	possibly damaging	0.58
R5531:Clspn	UTSW	4	126577773	missense	probably benign
R5614:Clspn	UTSW	4	126580962	missense	probably damaging	0.99
R5706:Clspn	UTSW	4	126578418	missense	probably damaging	1.00
R5806:Clspn	UTSW	4	126586106	missense	probably damaging	1.00
R6106:Clspn	UTSW	4	126590641	missense	probably benign	0.00
R6178:Clspn	UTSW	4	126577736	splice site	probably null
R6223:Clspn	UTSW	4	126586168	missense	probably damaging	0.99
R6326:Clspn	UTSW	4	126565739	missense	probably damaging	1.00
R6398:Clspn	UTSW	4	126563947	missense	probably damaging	1.00
R6714:Clspn	UTSW	4	126565768	missense	probably damaging	1.00
R7003:Clspn	UTSW	4	126592720	missense	possibly damaging	0.63
R7034:Clspn	UTSW	4	126580982	missense	possibly damaging	0.87
R7358:Clspn	UTSW	4	126566200	missense	probably benign	0.02
R7376:Clspn	UTSW	4	126590637	missense	possibly damaging	0.65
R7675:Clspn	UTSW	4	126566320	missense	probably benign	0.00
R8320:Clspn	UTSW	4	126563950	missense	possibly damaging	0.73
R8517:Clspn	UTSW	4	126566219	missense	probably benign	0.00
R8547:Clspn	UTSW	4	126561816	missense	probably damaging	1.00
R9223:Clspn	UTSW	4	126590618	missense	possibly damaging	0.60
R9361:Clspn	UTSW	4	126585861	missense	probably damaging	0.99
R9527:Clspn	UTSW	4	126559999	nonsense	probably null
R9717:Clspn	UTSW	4	126564963	missense	possibly damaging	0.90
T0975:Clspn	UTSW	4	126566437	unclassified	probably benign
X0014:Clspn	UTSW	4	126575943	missense	probably damaging	1.00
Z1177:Clspn	UTSW	4	126566177	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTAAACTTGTTGCCTGGG -3'
(R):5'- CACAGCCTGATATCGATGGC -3'

Sequencing Primer
(F):5'- ATGTACCACGCACCGTTAGAGTG -3'
(R):5'- CCTGATATCGATGGCGGTGATTTC -3'

Posted On

2022-09-08