Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01149:Clspn'

50991

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 #

IGL01149

Quality Score

Status

Chromosome

Chromosomal Location

126450728-126487696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126466971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 612 (M612R)

Ref Sequence

ENSEMBL: ENSMUSP00000045344 (fasta)

Gene Model

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

AlphaFold

Q80YR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048391
AA Change: M612R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: M612R

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

unknown
Transcript: ENSMUST00000126512
AA Change: M87R

SMART Domains

Protein: ENSMUSP00000119437
Gene: ENSMUSG00000042489
AA Change: M87R

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: 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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4632415L05Rik	A	G	3: 19,949,276 (GRCm39)		noncoding transcript	Het
Aadacl4fm4	T	C	4: 144,400,349 (GRCm39)	D143G	probably benign	Het
Adcy1	A	C	11: 7,087,385 (GRCm39)	N420H	probably damaging	Het
Avp	T	C	2: 130,422,593 (GRCm39)		probably benign	Het
B3galnt2	A	T	13: 14,155,270 (GRCm39)	I216F	probably benign	Het
Cdc42bpa	T	C	1: 179,902,137 (GRCm39)	S465P	probably damaging	Het
Cdc42bpg	T	A	19: 6,362,235 (GRCm39)		probably benign	Het
Cdcp2	T	C	4: 106,964,308 (GRCm39)	F386S	probably benign	Het
Cdh4	A	G	2: 179,515,937 (GRCm39)	T372A	probably damaging	Het
Dll4	T	C	2: 119,161,590 (GRCm39)	C391R	probably damaging	Het
Dll4	T	C	2: 119,163,226 (GRCm39)	Y616H	probably damaging	Het
Exoc1	A	G	5: 76,690,091 (GRCm39)		probably benign	Het
F830045P16Rik	A	G	2: 129,302,232 (GRCm39)		probably null	Het
Fhod1	A	G	8: 106,074,439 (GRCm39)		probably benign	Het
Fign	T	C	2: 63,810,104 (GRCm39)	R389G	possibly damaging	Het
Gm13941	T	A	2: 110,931,482 (GRCm39)	E50V	unknown	Het
Kit	C	T	5: 75,771,536 (GRCm39)	T231M	probably damaging	Het
Neu3	T	C	7: 99,463,087 (GRCm39)	H212R	probably benign	Het
Nup214	G	T	2: 31,924,712 (GRCm39)	S1747I	probably damaging	Het
Or4f4b	T	C	2: 111,314,446 (GRCm39)	S224P	probably damaging	Het
Or4q3	G	T	14: 50,583,071 (GRCm39)	A276E	probably damaging	Het
Or8b12i	G	T	9: 20,082,826 (GRCm39)	L14I	probably damaging	Het
Secisbp2	T	C	13: 51,830,491 (GRCm39)		probably null	Het
Slc26a10	G	A	10: 127,010,046 (GRCm39)		probably benign	Het
Slc7a6	T	C	8: 106,906,232 (GRCm39)	S155P	probably damaging	Het
Slf1	A	T	13: 77,260,767 (GRCm39)	I173N	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tkfc	A	G	19: 10,578,015 (GRCm39)	L38P	probably damaging	Het
Tubgcp4	A	G	2: 121,015,264 (GRCm39)	D324G	probably null	Het
Zfyve16	T	C	13: 92,644,791 (GRCm39)	H1137R	probably damaging	Het

Other mutations in Clspn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21