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

068970-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9106 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

126450728-126487696 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 126471243 bp (GRCm39)

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
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,136,067 (GRCm39)	E219V	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,486,446 (GRCm39)	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Rnf19b	A	G	4: 128,977,940 (GRCm39)	E719G		Het
Sart3	T	C	5: 113,892,410 (GRCm39)	D363G	possibly damaging	Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc27a5	A	G	7: 12,725,097 (GRCm39)	V450A	probably benign	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	Het

Other mutations in Clspn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Clspn	APN	4	126,466,971 (GRCm39)	missense	probably damaging	1.00
IGL02160:Clspn	APN	4	126,475,303 (GRCm39)	missense	probably benign	0.21
IGL02231:Clspn	APN	4	126,453,021 (GRCm39)	missense	probably damaging	0.98
IGL02281:Clspn	APN	4	126,459,563 (GRCm39)	missense	possibly damaging	0.90
IGL02368:Clspn	APN	4	126,459,900 (GRCm39)	missense	probably benign
IGL03149:Clspn	APN	4	126,470,295 (GRCm39)	splice site	probably benign
Durch	UTSW	4	126,474,755 (GRCm39)	missense	probably damaging	0.99
R0012:Clspn	UTSW	4	126,458,722 (GRCm39)	unclassified	probably benign
R0035:Clspn	UTSW	4	126,458,796 (GRCm39)	splice site	probably null
R0035:Clspn	UTSW	4	126,458,796 (GRCm39)	splice site	probably null
R0207:Clspn	UTSW	4	126,484,391 (GRCm39)	missense	possibly damaging	0.82
R0270:Clspn	UTSW	4	126,467,029 (GRCm39)	missense	probably damaging	1.00
R0825:Clspn	UTSW	4	126,466,923 (GRCm39)	splice site	probably benign
R1082:Clspn	UTSW	4	126,471,572 (GRCm39)	missense	possibly damaging	0.95
R1349:Clspn	UTSW	4	126,457,770 (GRCm39)	missense	probably benign
R1568:Clspn	UTSW	4	126,475,310 (GRCm39)	missense	probably benign	0.01
R1649:Clspn	UTSW	4	126,460,228 (GRCm39)	unclassified	probably benign
R1663:Clspn	UTSW	4	126,459,768 (GRCm39)	missense	probably benign	0.00
R2497:Clspn	UTSW	4	126,466,140 (GRCm39)	missense	possibly damaging	0.79
R3107:Clspn	UTSW	4	126,485,452 (GRCm39)	missense	probably benign	0.06
R3951:Clspn	UTSW	4	126,470,172 (GRCm39)	missense	probably damaging	1.00
R3953:Clspn	UTSW	4	126,460,230 (GRCm39)	frame shift	probably null
R3954:Clspn	UTSW	4	126,460,230 (GRCm39)	frame shift	probably null
R3956:Clspn	UTSW	4	126,460,230 (GRCm39)	frame shift	probably null
R4599:Clspn	UTSW	4	126,475,253 (GRCm39)	missense	probably benign	0.14
R4717:Clspn	UTSW	4	126,453,849 (GRCm39)	missense	probably damaging	1.00
R4853:Clspn	UTSW	4	126,460,348 (GRCm39)	missense	probably damaging	0.99
R4854:Clspn	UTSW	4	126,469,743 (GRCm39)	missense	probably benign
R4979:Clspn	UTSW	4	126,472,179 (GRCm39)	missense	probably damaging	1.00
R5363:Clspn	UTSW	4	126,455,579 (GRCm39)	missense	possibly damaging	0.58
R5531:Clspn	UTSW	4	126,471,566 (GRCm39)	missense	probably benign
R5614:Clspn	UTSW	4	126,474,755 (GRCm39)	missense	probably damaging	0.99
R5706:Clspn	UTSW	4	126,472,211 (GRCm39)	missense	probably damaging	1.00
R5806:Clspn	UTSW	4	126,479,899 (GRCm39)	missense	probably damaging	1.00
R6106:Clspn	UTSW	4	126,484,434 (GRCm39)	missense	probably benign	0.00
R6178:Clspn	UTSW	4	126,471,529 (GRCm39)	splice site	probably null
R6223:Clspn	UTSW	4	126,479,961 (GRCm39)	missense	probably damaging	0.99
R6326:Clspn	UTSW	4	126,459,532 (GRCm39)	missense	probably damaging	1.00
R6398:Clspn	UTSW	4	126,457,740 (GRCm39)	missense	probably damaging	1.00
R6714:Clspn	UTSW	4	126,459,561 (GRCm39)	missense	probably damaging	1.00
R7003:Clspn	UTSW	4	126,486,513 (GRCm39)	missense	possibly damaging	0.63
R7034:Clspn	UTSW	4	126,474,775 (GRCm39)	missense	possibly damaging	0.87
R7358:Clspn	UTSW	4	126,459,993 (GRCm39)	missense	probably benign	0.02
R7376:Clspn	UTSW	4	126,484,430 (GRCm39)	missense	possibly damaging	0.65
R7675:Clspn	UTSW	4	126,460,113 (GRCm39)	missense	probably benign	0.00
R8320:Clspn	UTSW	4	126,457,743 (GRCm39)	missense	possibly damaging	0.73
R8517:Clspn	UTSW	4	126,460,012 (GRCm39)	missense	probably benign	0.00
R8547:Clspn	UTSW	4	126,455,609 (GRCm39)	missense	probably damaging	1.00
R9223:Clspn	UTSW	4	126,484,411 (GRCm39)	missense	possibly damaging	0.60
R9361:Clspn	UTSW	4	126,479,654 (GRCm39)	missense	probably damaging	0.99
R9527:Clspn	UTSW	4	126,453,792 (GRCm39)	nonsense	probably null
R9717:Clspn	UTSW	4	126,458,756 (GRCm39)	missense	possibly damaging	0.90
T0975:Clspn	UTSW	4	126,460,230 (GRCm39)	unclassified	probably benign
X0014:Clspn	UTSW	4	126,469,736 (GRCm39)	missense	probably damaging	1.00
Z1177:Clspn	UTSW	4	126,459,970 (GRCm39)	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