Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03149:Clspn'

411046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03149

Quality Score

Status

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 126576502 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146944

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	A	G	8: 77,409,538		probably benign	Het
Arhgap42	A	G	9: 9,008,084	I546T	possibly damaging	Het
Arsj	A	T	3: 126,439,404		probably benign	Het
Ash2l	A	G	8: 25,818,622	V543A	probably benign	Het
B4galnt3	A	G	6: 120,231,594		probably benign	Het
Blvra	T	A	2: 127,082,951	V11E	probably damaging	Het
Calcb	T	C	7: 114,720,136	L51P	probably damaging	Het
Cd36	T	A	5: 17,820,565	K52N	probably benign	Het
Cebpz	T	C	17: 78,922,553	N857S	probably benign	Het
Ces1b	A	G	8: 93,064,874		probably benign	Het
Cr2	A	T	1: 195,166,366	L283H	probably damaging	Het
Ctc1	T	C	11: 69,031,161	V811A	possibly damaging	Het
Ctsk	T	C	3: 95,501,419	S65P	possibly damaging	Het
Ddx51	A	G	5: 110,653,734	N83D	probably benign	Het
Eci2	T	C	13: 34,988,313	T146A	probably benign	Het
Erbin	T	C	13: 103,841,163	N629D	possibly damaging	Het
Etfbkmt	A	G	6: 149,144,283	E45G	probably damaging	Het
Fat4	A	G	3: 38,991,685	N3951S	probably damaging	Het
Fktn	T	C	4: 53,744,653	V311A	probably benign	Het
Garem1	G	T	18: 21,131,466	P534T	probably damaging	Het
Gm8237	A	G	14: 5,864,451	I37T	probably benign	Het
Ikzf5	T	C	7: 131,396,765	K13E	probably damaging	Het
Kl	T	A	5: 150,982,735	C523*	probably null	Het
Klhl7	G	A	5: 24,159,689	V574I	probably benign	Het
Lyst	T	C	13: 13,681,444	V2450A	probably benign	Het
Map3k6	A	T	4: 133,249,688	I819F	probably damaging	Het
Mphosph9	T	C	5: 124,263,011	E891G	probably damaging	Het
Myo7b	A	G	18: 32,014,302	S63P	probably damaging	Het
Ndufaf7	C	T	17: 78,945,010	R283C	possibly damaging	Het
Nepro	G	T	16: 44,727,099	A60S	probably damaging	Het
Nop56	T	C	2: 130,277,525	S354P	probably damaging	Het
Nwd2	T	A	5: 63,805,995	L974H	probably damaging	Het
Olfr1253	T	C	2: 89,752,828		probably null	Het
Olfr600	A	T	7: 103,346,849	H26Q	probably benign	Het
Pacsin3	T	A	2: 91,261,507		probably benign	Het
Parp12	C	T	6: 39,114,231	D142N	probably benign	Het
Pcdh15	G	A	10: 74,630,695	D1449N	probably damaging	Het
Pcsk7	C	T	9: 45,909,480	T70M	probably benign	Het
Pld4	T	C	12: 112,766,829	F280L	probably benign	Het
Ppm1k	C	A	6: 57,524,774	A135S	probably damaging	Het
Prkcq	A	T	2: 11,232,545	Y45F	probably benign	Het
Prom1	T	A	5: 44,029,734	I385F	probably damaging	Het
Prss12	A	G	3: 123,505,387	N603D	probably benign	Het
Ptbp2	G	T	3: 119,720,425	T501K	possibly damaging	Het
Ranbp17	C	A	11: 33,243,183	R957L	possibly damaging	Het
Rasl10a	T	C	11: 5,058,429	Y42H	possibly damaging	Het
Serpina9	G	A	12: 104,008,610	Q95*	probably null	Het
Serpinb1b	C	A	13: 33,085,292	Q3K	possibly damaging	Het
Sgo2b	T	A	8: 63,926,583	M1072L	probably benign	Het
Slc1a5	T	C	7: 16,789,820	V250A	probably damaging	Het
Slc30a6	T	C	17: 74,423,023	S303P	probably damaging	Het
Tbc1d2	A	T	4: 46,637,619	I209N	probably benign	Het
Tmc4	T	A	7: 3,667,178	I484L	probably benign	Het
Ttll5	G	A	12: 85,918,984	E36K	probably damaging	Het
Unc93b1	A	G	19: 3,944,041	M391V	probably benign	Het
Xpo5	T	A	17: 46,215,814		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
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
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

Posted On

2016-08-02