Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Clspn'

571087

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 #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126566200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 407 (T407A)

Ref Sequence

ENSEMBL: ENSMUSP00000045344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048391] [ENSMUST00000129795]

AlphaFold

Q80YR7

Predicted Effect

probably benign
Transcript: ENSMUST00000048391
AA Change: T407A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: T407A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129795
AA Change: T238A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: T238A

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,292,013	L1721S	possibly damaging	Het
Abca17	T	A	17: 24,291,555	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,380,979	D9V	probably benign	Het
Ankrd13c	T	A	3: 157,991,737	Y326*	probably null	Het
Ano2	A	G	6: 125,710,733	D67G	probably benign	Het
Arhgef5	G	A	6: 43,279,573	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,714,352	Y1055*	probably null	Het
Atad5	C	T	11: 80,133,036	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 90,883,807	D252G	probably damaging	Het
BC067074	A	G	13: 113,319,967	D849G		Het
Bdkrb2	T	C	12: 105,592,541	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,255,995	L1194Q	probably damaging	Het
Chd9	A	C	8: 90,983,487	D770A	unknown	Het
Chd9	A	G	8: 91,034,218	D2197G	unknown	Het
Clip2	C	A	5: 134,502,630	E774*	probably null	Het
Col24a1	T	A	3: 145,293,165		probably null	Het
Cradd	T	A	10: 95,322,775	T37S	probably damaging	Het
Ctbp2	A	G	7: 132,998,881	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,746,565	E6D	probably damaging	Het
Dst	T	A	1: 34,191,673	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479		probably null	Het
Eif2s1	G	T	12: 78,881,195	G215V	probably damaging	Het
Epg5	A	T	18: 77,959,037	D557V	possibly damaging	Het
Eya4	C	T	10: 23,123,851		probably null	Het
Fam192a	T	C	8: 94,575,699	N235D	possibly damaging	Het
Fpr1	C	A	17: 17,876,980	R249L	probably damaging	Het
Fry	A	G	5: 150,416,323	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,690,461		probably null	Het
Gemin4	A	C	11: 76,213,452	L161*	probably null	Het
Gid8	A	T	2: 180,717,986	K221I	probably benign	Het
Gm21028	A	C	7: 42,578,489	C34G	probably damaging	Het
Gm4737	T	C	16: 46,153,838	E392G	probably damaging	Het
Greb1	A	G	12: 16,724,881	S172P	probably damaging	Het
Herc2	A	G	7: 56,182,675	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,416,812	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,323,141	G229*	probably null	Het
Igfn1	A	T	1: 135,964,000	V2259D	probably damaging	Het
Ism2	A	G	12: 87,280,040	F375S	probably damaging	Het
Kcnk4	T	A	19: 6,926,110	D357V	probably damaging	Het
Knl1	A	G	2: 119,070,559	R914G	possibly damaging	Het
Mars2	T	C	1: 55,237,570	S111P	probably damaging	Het
Mogat2	G	A	7: 99,232,466	P88S	possibly damaging	Het
Msh2	T	A	17: 87,717,529	S612T	possibly damaging	Het
Nvl	A	G	1: 181,135,036	L123P	probably damaging	Het
Olfr1029	T	A	2: 85,975,436	S64R	possibly damaging	Het
Olfr352	T	C	2: 36,869,878	V104A	probably benign	Het
Olfr621-ps1	A	G	7: 103,629,183	L259P	unknown	Het
Olfr709-ps1	A	T	7: 106,926,904	L185Q	probably damaging	Het
Olfr771	T	A	10: 129,160,070	I305F	probably benign	Het
Olfr868	A	T	9: 20,100,873	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,666,142		probably null	Het
Pard3	A	T	8: 127,593,092	I1149L	probably damaging	Het
Pcdha8	T	A	18: 36,992,777	I104N	probably damaging	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pgap2	A	T	7: 102,210,567		probably benign	Het
Phf7	T	C	14: 31,241,788	R76G	probably benign	Het
Pigu	T	C	2: 155,299,170	T268A	probably damaging	Het
Piwil4	T	C	9: 14,729,993	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,945,202	E636A		Het
Plscr3	T	C	11: 69,847,490	S55P	unknown	Het
Pnlip	T	A	19: 58,676,544	I268N	probably damaging	Het
Podxl	A	T	6: 31,524,994	H343Q	probably benign	Het
Prkcd	T	C	14: 30,605,836	T213A	probably benign	Het
Prss22	T	A	17: 23,996,445	Q119L	probably benign	Het
Ptprcap	A	G	19: 4,156,239	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Rasa4	A	G	5: 136,095,594	T166A	probably benign	Het
Sbf2	T	C	7: 110,399,348	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,682,506	Y203*	probably null	Het
Serpinb1a	G	C	13: 32,842,998	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,829,921	T464I	probably benign	Het
Slc47a2	G	A	11: 61,308,873	A399V	possibly damaging	Het
Smim4	A	G	14: 31,124,603	V53A	probably damaging	Het
Snrnp200	A	G	2: 127,221,826	T642A	probably benign	Het
Spag16	A	G	1: 69,844,367	H85R	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stag3	C	A	5: 138,301,508	L894M	probably damaging	Het
Sun2	A	T	15: 79,734,112	F284Y	probably benign	Het
Tpx2	T	A	2: 152,876,630	N184K	probably benign	Het
Trpa1	A	T	1: 14,898,110	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,790,310	R157H	probably damaging	Het
Ttn	C	T	2: 76,707,305	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,696,648	S360P	probably damaging	Het
Usp34	T	A	11: 23,361,683	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,624,260	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,633,171	C73*	probably null	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141	E214G	unknown	Het
Zmym5	T	A	14: 56,794,140	K504*	probably null	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
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
R9106:Clspn	UTSW	4	126577450	intron	probably benign
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'- GGAAACCGTAAACCCTGCAG -3'
(R):5'- TCCACGGTGAATCGTCTCAC -3'

Sequencing Primer
(F):5'- CAGATGCAGCTGGAATGGGTG -3'
(R):5'- GCCGTCACTACTGCCACTG -3'

Posted On

2019-09-13