Mutagenetix > Incidental Mutation

Incidental Mutation 'R7675:Clspn'

592414

Institutional Source

Beutler Lab

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

MMRRC Submission

045706-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126450728-126487696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126460113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

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: S447P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: S447P

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

SMART Domains

Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (28/29)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	T	C	5: 93,361,233 (GRCm39)	S96P	unknown	Het
Acaca	A	G	11: 84,206,742 (GRCm39)	E1534G	probably benign	Het
Adam7	A	T	14: 68,737,302 (GRCm39)	D773E	probably benign	Het
Cacna1s	T	A	1: 136,038,612 (GRCm39)	I1398N	probably damaging	Het
Calu	C	T	6: 29,356,516 (GRCm39)	T14I	probably benign	Het
Casp8	A	G	1: 58,863,106 (GRCm39)	D2G	possibly damaging	Het
Cldn1	T	C	16: 26,190,261 (GRCm39)	N39S	probably benign	Het
Eef2k	A	G	7: 120,457,727 (GRCm39)	T29A	probably benign	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gucy2c	A	G	6: 136,693,030 (GRCm39)	V723A	possibly damaging	Het
Ighv1-69	A	T	12: 115,587,209 (GRCm39)	W3R	probably damaging	Het
Inava	G	T	1: 136,143,741 (GRCm39)	A565E	probably benign	Het
Krtap16-1	A	G	11: 99,876,259 (GRCm39)	C382R	possibly damaging	Het
Lrrc8a	G	A	2: 30,145,680 (GRCm39)	D165N	probably damaging	Het
Mideas	G	T	12: 84,220,574 (GRCm39)	P127T	probably damaging	Het
Naaladl2	T	A	3: 24,605,816 (GRCm39)	M148L	probably benign	Het
Nphp3	A	T	9: 103,893,287 (GRCm39)	E424D	probably benign	Het
Prpf40a	T	C	2: 53,035,648 (GRCm39)	K714R	possibly damaging	Het
Ptpn23	A	T	9: 110,216,094 (GRCm39)	L1254*	probably null	Het
Sap30l	A	G	11: 57,700,867 (GRCm39)	K174E	probably damaging	Het
Serpinb9d	C	T	13: 33,386,759 (GRCm39)	Q276*	probably null	Het
Sp140l2	C	T	1: 85,224,736 (GRCm39)	M266I	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,400,504 (GRCm39)	D432G	probably damaging	Het
Tmsb10b	A	T	7: 24,561,784 (GRCm39)	T28S	probably benign	Het
Unc119	G	A	11: 78,234,423 (GRCm39)	G11R	probably damaging	Het
Usp36	A	G	11: 118,154,522 (GRCm39)	V965A	probably benign	Het
Vmn2r4	A	T	3: 64,322,657 (GRCm39)	Y21N	probably benign	Het
Zbtb38	G	T	9: 96,567,594 (GRCm39)	D1163E	probably benign	Het
Zfp62	A	G	11: 49,106,847 (GRCm39)	I313V	possibly damaging	Het
Zfp980	C	T	4: 145,428,164 (GRCm39)	Q298*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGAAGAAGCCGGGATCAC -3'
(R):5'- GTTGACTGGAAACATCCACTCCC -3'

Sequencing Primer
(F):5'- TCACTGCTGGATCAGATGAGGC -3'
(R):5'- CAGCTGTCTAAGTCGGTCCAC -3'

Posted On

2019-11-12