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

126450728-126487696 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

ACGGCGGCGGCGGCG to ACGGCGGCGGCGGCGGCGGCG at 126460230 bp (GRCm39)

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: 3,887,945 (GRCm39)		probably null	Het
4930556J24Rik	C	T	11: 3,926,324 (GRCm39)	A27T	unknown	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,071,384 (GRCm39)		probably null	Het
Castor1	G	C	11: 4,170,445 (GRCm39)	G147A	probably benign	Het
Ccdc157	C	T	11: 4,096,246 (GRCm39)	A455T	probably damaging	Het
Ccng1	A	C	11: 40,644,871 (GRCm39)	S9A	probably benign	Het
Cfh	T	C	1: 140,082,336 (GRCm39)	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Chrng	T	C	1: 87,138,348 (GRCm39)	S380P	probably benign	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,823,950 (GRCm39)	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Dpep1	A	T	8: 123,927,727 (GRCm39)	S388C	probably damaging	Het
Emid1	T	C	11: 5,094,386 (GRCm39)	T42A	probably damaging	Het
Emid1	A	C	11: 5,078,884 (GRCm39)	L353V	probably benign	Het
Epn3	A	G	11: 94,382,733 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,190,843 (GRCm39)	E180G	probably benign	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm9972	GA	GAA	11: 42,927,597 (GRCm39)		probably null	Het
Hmmr	G	C	11: 40,614,243 (GRCm39)	N148K	probably damaging	Het
Homez	C	T	14: 55,094,796 (GRCm39)	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,485,221 (GRCm39)	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,452,527 (GRCm39)	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kremen1	C	T	11: 5,145,105 (GRCm39)	A424T	probably benign	Het
Mat2b	G	A	11: 40,570,918 (GRCm39)	T302I	probably benign	Het
Mtmr3	C	T	11: 4,438,441 (GRCm39)	R671K	probably benign	Het
Nacad	A	G	11: 6,551,632 (GRCm39)	C520R	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,549,750 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,551,622 (GRCm39)	N523S	probably benign	Het
Nefh	G	A	11: 4,890,151 (GRCm39)	P823S	probably benign	Het
Nfrkb	G	C	9: 31,308,379 (GRCm39)	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Notch3	T	A	17: 32,365,391 (GRCm39)	Y1107F	probably damaging	Het
Or10ak9	G	T	4: 118,726,500 (GRCm39)	R174M	probably benign	Het
Or13g1	A	T	7: 85,955,492 (GRCm39)	Y276*	probably null	Het
Or6c35	A	G	10: 129,169,314 (GRCm39)	D188G	probably benign	Het
Osm	A	G	11: 4,189,588 (GRCm39)	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 132,984,305 (GRCm39)		probably benign	Het
Tcn2	G	C	11: 3,873,487 (GRCm39)	F286L	possibly damaging	Het
Tg	T	C	15: 66,560,712 (GRCm39)	S10P	probably benign	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Tns3	G	A	11: 8,499,100 (GRCm39)		probably benign	Het
Tns3	G	T	11: 8,401,146 (GRCm39)	L1051M	probably benign	Het
Tns3	T	G	11: 8,429,518 (GRCm39)	E806A	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Txnrd2	A	G	16: 18,294,315 (GRCm39)	H436R	probably damaging	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,690,120 (GRCm39)	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zfyve21	A	G	12: 111,794,067 (GRCm39)	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het
Zpld2	GTG	GTGCTG	4: 133,929,940 (GRCm39)		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
R9106:Clspn	UTSW	4	126,471,243 (GRCm39)	intron	probably benign
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
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

Posted On

2015-02-04