Mutagenetix > Incidental Mutation

Incidental Mutation 'R6326:Clspn'

510398

Institutional Source

Beutler Lab

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

MMRRC Submission

044480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126450728-126487696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126459532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 141 (H141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120683 (fasta)

Gene Model

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

AlphaFold

Q80YR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048391
AA Change: H310Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: H310Q

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 damaging
Transcript: ENSMUST00000129795
AA Change: H141Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: H141Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	T	7: 66,770,636 (GRCm39)	Y915F	probably benign	Het
Adap2	T	A	11: 80,045,848 (GRCm39)	F43I	probably damaging	Het
Adprs	A	T	4: 126,210,406 (GRCm39)	L358Q	possibly damaging	Het
Akap9	A	C	5: 4,012,061 (GRCm39)	Q921H	probably damaging	Het
Amigo2	A	G	15: 97,143,256 (GRCm39)	S389P	probably benign	Het
Atg2b	A	T	12: 105,627,351 (GRCm39)	C545*	probably null	Het
C2cd3	A	G	7: 100,065,635 (GRCm39)	E807G	probably benign	Het
Ccdc110	A	G	8: 46,395,078 (GRCm39)	E323G	probably damaging	Het
Cdk5rap2	T	A	4: 70,153,691 (GRCm39)	S1711C	probably damaging	Het
Cebpzos	T	G	17: 79,226,486 (GRCm39)	D39E	probably damaging	Het
Cenpe	A	G	3: 134,945,539 (GRCm39)	N1018D	probably benign	Het
Cfap68	T	G	9: 50,676,057 (GRCm39)	N87T	probably damaging	Het
Cluh	C	T	11: 74,557,068 (GRCm39)	A1010V	probably benign	Het
Col27a1	G	T	4: 63,242,678 (GRCm39)		probably benign	Het
Cpt2	T	C	4: 107,771,513 (GRCm39)	M61V	probably benign	Het
Ddr2	T	A	1: 169,814,709 (GRCm39)	H578L	probably damaging	Het
Dnah14	T	A	1: 181,611,121 (GRCm39)	I3749N	probably damaging	Het
Dnajc18	T	C	18: 35,813,978 (GRCm39)	T264A	possibly damaging	Het
Ecpas	T	A	4: 58,827,068 (GRCm39)	T1022S	probably benign	Het
Eml6	T	C	11: 29,769,066 (GRCm39)	N693S	probably damaging	Het
Ephx4	A	G	5: 107,553,977 (GRCm39)	E9G	probably damaging	Het
Eps15l1	G	A	8: 73,095,278 (GRCm39)	Q747*	probably null	Het
Flrt1	C	T	19: 7,073,974 (GRCm39)	S191N	probably damaging	Het
Gm5114	C	T	7: 39,057,579 (GRCm39)	R680H	probably benign	Het
Gm5431	T	C	11: 48,780,172 (GRCm39)	H250R	probably damaging	Het
Gm7233	T	C	14: 43,040,342 (GRCm39)	C198R	possibly damaging	Het
Herc2	C	G	7: 55,872,682 (GRCm39)	Q4407E	probably damaging	Het
Hmx3	C	G	7: 131,144,734 (GRCm39)		probably benign	Het
Hoxb7	C	A	11: 96,177,909 (GRCm39)	A119E	probably benign	Het
Ifi207	A	T	1: 173,557,532 (GRCm39)	M402K	probably benign	Het
Ints14	T	C	9: 64,871,719 (GRCm39)	V19A	probably benign	Het
Itgae	T	A	11: 73,022,519 (GRCm39)	N911K	possibly damaging	Het
Kif1a	T	C	1: 93,004,048 (GRCm39)	S145G	probably damaging	Het
Klhdc4	A	G	8: 122,531,793 (GRCm39)	W187R	probably damaging	Het
Krt1	A	T	15: 101,758,684 (GRCm39)	I160N	probably damaging	Het
Krt12	T	C	11: 99,307,745 (GRCm39)	T448A	probably benign	Het
Lcmt2	G	A	2: 120,969,938 (GRCm39)	R382*	probably null	Het
Map3k8	C	T	18: 4,340,651 (GRCm39)	S221N	probably damaging	Het
Med17	T	C	9: 15,190,854 (GRCm39)	D79G	probably benign	Het
Mlf1	A	T	3: 67,307,060 (GRCm39)	I257F	probably damaging	Het
Mov10l1	T	A	15: 88,879,098 (GRCm39)	F153I	probably damaging	Het
Msto1	A	C	3: 88,819,405 (GRCm39)	V149G	probably damaging	Het
Mybl1	T	C	1: 9,748,732 (GRCm39)		probably null	Het
Myoc	A	G	1: 162,476,580 (GRCm39)	Y428C	probably damaging	Het
Nin	A	G	12: 70,091,955 (GRCm39)	S785P	possibly damaging	Het
Oit3	A	T	10: 59,264,061 (GRCm39)	F358I	probably damaging	Het
Or5t15	C	T	2: 86,681,338 (GRCm39)	V235I	probably benign	Het
Or6c88	A	G	10: 129,406,571 (GRCm39)	T16A	possibly damaging	Het
Paip1	A	G	13: 119,566,753 (GRCm39)	N29S	probably benign	Het
Pcdhgb4	T	C	18: 37,855,509 (GRCm39)	S635P	probably benign	Het
Pcsk1	A	G	13: 75,280,298 (GRCm39)	N708D	possibly damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prag1	A	T	8: 36,569,860 (GRCm39)	M148L	possibly damaging	Het
Ptch1	A	G	13: 63,691,359 (GRCm39)	L176P	probably damaging	Het
Ralgapa1	A	T	12: 55,793,931 (GRCm39)	V568D	probably damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Resf1	T	A	6: 149,230,493 (GRCm39)	Y1180N	probably damaging	Het
Robo3	T	A	9: 37,338,323 (GRCm39)	Q386L	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,828 (GRCm39)	V420A	possibly damaging	Het
Sall1	A	T	8: 89,756,896 (GRCm39)	N1069K	probably benign	Het
Sipa1l1	A	G	12: 82,419,242 (GRCm39)	E640G	probably damaging	Het
Slc22a2	C	A	17: 12,831,297 (GRCm39)	Y362*	probably null	Het
Slc5a9	T	C	4: 111,737,450 (GRCm39)	E603G	probably benign	Het
Slc6a17	A	T	3: 107,407,722 (GRCm39)	I83N	probably damaging	Het
Snx29	G	T	16: 11,221,430 (GRCm39)	M285I	probably benign	Het
Spata2	T	C	2: 167,326,094 (GRCm39)	T242A	possibly damaging	Het
Stard13	A	G	5: 150,970,384 (GRCm39)	L733P	possibly damaging	Het
Svep1	A	G	4: 58,073,045 (GRCm39)	V2088A	possibly damaging	Het
Tdp2	A	G	13: 25,024,540 (GRCm39)	E279G	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,794 (GRCm39)	I422L	probably damaging	Het
Tpk1	T	A	6: 43,323,736 (GRCm39)	T189S	possibly damaging	Het
Trhde	A	T	10: 114,403,129 (GRCm39)	M498K	probably damaging	Het
Trim35	T	A	14: 66,540,653 (GRCm39)	H168Q	possibly damaging	Het
Tubb5	T	C	17: 36,147,347 (GRCm39)		probably benign	Het
Tut4	C	T	4: 108,336,177 (GRCm39)	T6I	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r77	G	A	7: 86,451,031 (GRCm39)	G306R	probably benign	Het
Xkr4	C	T	1: 3,741,261 (GRCm39)	R104H	possibly damaging	Het
Zfp398	T	C	6: 47,843,355 (GRCm39)	I337T	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACGCAGGACTGTTTTCTGTCTC -3'
(R):5'- GGCCCGACTGATACTTACATGAC -3'

Sequencing Primer
(F):5'- ACTGTTTTCTGTCTCATGGTAGC -3'
(R):5'- GGTGGAACTGAAAATTCTCACTGTG -3'

Posted On

2018-04-02