Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Clspn'

262144

Institutional Source

Beutler Lab

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

T0975 (G3) of strain 714

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

ACGGCGGCGGCGGCG to ACGGCGGCGGCGGCGGCGGCG at 126566437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120683 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000123695

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

SMART Domains

Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,937,945		probably null	Het
4930556J24Rik	C	T	11: 3,976,324	A27T	unknown	Het
Ago3	C	T	4: 126,404,263	V155I	probably benign	Het
Ago3	C	T	4: 126,404,305	A141T	probably benign	Het
Ago3	G	A	4: 126,404,310	A139V	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 133,062,754		probably benign	Het
Azin2	A	G	4: 128,946,134	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,229,464		probably null	Het
Ccdc157	C	T	11: 4,146,246	A455T	probably damaging	Het
Ccng1	A	C	11: 40,754,044	S9A	probably benign	Het
Cfh	T	C	1: 140,154,598	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 72,462,034		probably benign	Het
Chrng	T	C	1: 87,210,626	S380P	probably benign	Het
Ctrc	T	TA	4: 141,845,196		probably null	Het
Cxxc1	C	T	18: 74,220,921	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,516,955	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,763,066	S1255G	probably benign	Het
Dpep1	A	T	8: 123,200,988	S388C	probably damaging	Het
Emid1	A	C	11: 5,128,884	L353V	probably benign	Het
Emid1	T	C	11: 5,144,386	T42A	probably damaging	Het
Epn3	A	G	11: 94,491,907		probably null	Het
Fam124b	T	C	1: 80,213,126	E180G	probably benign	Het
Fam135b	T	G	15: 71,463,885	T487P	probably damaging	Het
Gatsl3	G	C	11: 4,220,445	G147A	probably benign	Het
Gja4	G	C	4: 127,312,231	H246Q	probably benign	Het
Gm7534	GTG	GTGCTG	4: 134,202,629		probably benign	Het
Gm9972	GA	GAA	11: 43,036,770		probably null	Het
Hmmr	G	C	11: 40,723,416	N148K	probably damaging	Het
Homez	C	T	14: 54,857,339	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,609,473	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,502,527	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,171,423		probably benign	Het
Kremen1	C	T	11: 5,195,105	A424T	probably benign	Het
Mat2b	G	A	11: 40,680,091	T302I	probably benign	Het
Mtmr3	C	T	11: 4,488,441	R671K	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,599,750		probably benign	Het
Nacad	T	C	11: 6,601,622	N523S	probably benign	Het
Nacad	A	G	11: 6,601,632	C520R	probably benign	Het
Nefh	G	A	11: 4,940,151	P823S	probably benign	Het
Nfrkb	G	C	9: 31,397,083	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,449,637	E223G	probably damaging	Het
Notch3	T	A	17: 32,146,417	Y1107F	probably damaging	Het
Olfr1331	G	T	4: 118,869,303	R174M	probably benign	Het
Olfr309	A	T	7: 86,306,284	Y276*	probably null	Het
Olfr781	A	G	10: 129,333,445	D188G	probably benign	Het
Osm	A	G	11: 4,239,588	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,631,981		probably benign	Het
Pomgnt1	C	T	4: 116,137,427		probably benign	Het
Spen	A	G	4: 141,474,353	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 133,256,994		probably benign	Het
Tcn2	G	C	11: 3,923,487	F286L	possibly damaging	Het
Tg	T	C	15: 66,688,863	S10P	probably benign	Het
Tmprss7	C	T	16: 45,680,733	R235Q	probably benign	Het
Tns3	G	T	11: 8,451,146	L1051M	probably benign	Het
Tns3	T	G	11: 8,479,518	E806A	probably benign	Het
Tns3	G	A	11: 8,549,100		probably benign	Het
Toe1	T	C	4: 116,806,093	I62M	probably benign	Het
Txnrd2	A	G	16: 18,475,565	H436R	probably damaging	Het
Ubr4	C	T	4: 139,451,781	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,713,161	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,360,019		probably benign	Het
Zbtb8a	T	C	4: 129,360,212	H163R	probably benign	Het
Zfyve21	A	G	12: 111,827,633	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,479,200		probably benign	Het
Zmym1	C	T	4: 127,047,947	D785N	probably benign	Het
Zmym1	C	T	4: 127,048,250	V684I	probably benign	Het
Zmym1	A	C	4: 127,049,673	H307Q	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
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
X0014:Clspn	UTSW	4	126575943	missense	probably damaging	1.00
Z1177:Clspn	UTSW	4	126566177	missense	probably benign

Predicted Primers

Posted On

2015-02-04