Mutagenetix > Incidental Mutation

Incidental Mutation 'R9361:Clspn'

708678

Institutional Source

Beutler Lab

Gene Symbol

Clspn

Ensembl Gene

ENSMUSG00000042489

Gene Name

claspin

Synonyms

C85083, E130314M08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126585861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1033 (D1033V)

Ref Sequence

ENSEMBL: ENSMUSP00000045344 (fasta)

Gene Model

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

AlphaFold

Q80YR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048391
AA Change: D1033V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: D1033V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 120,634,321	A12T	unknown	Het
2810474O19Rik	T	G	6: 149,326,634	S393A	possibly damaging	Het
4933402N22Rik	C	T	5: 11,920,679	T105M		Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Aasdh	T	A	5: 76,882,378	T792S	probably benign	Het
Actl11	T	A	9: 107,928,625	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,209,366	R881L	possibly damaging	Het
Alox15	T	G	11: 70,350,853	K67N	probably damaging	Het
Amotl1	C	T	9: 14,593,381	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,730,130	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,907,343	M281V	probably benign	Het
Ccdc33	C	T	9: 58,117,625	C106Y	possibly damaging	Het
Celsr3	T	A	9: 108,849,322	I3250N	probably damaging	Het
Ces1g	A	T	8: 93,335,018		probably null	Het
Ces2b	G	A	8: 104,837,407		probably null	Het
Cntln	G	T	4: 85,049,914	R790I	probably benign	Het
Cspg4	T	C	9: 56,896,593	V1656A	probably damaging	Het
Dlgap1	A	T	17: 70,761,264	D610V	probably damaging	Het
Eya4	C	A	10: 23,109,867	G579W	probably damaging	Het
Fam46b	G	T	4: 133,486,150	A111S	probably damaging	Het
Fam83b	T	C	9: 76,492,794	I342M	probably benign	Het
Fhdc1	A	C	3: 84,448,833	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Fras1	T	G	5: 96,776,698	L3666R	probably damaging	Het
Gm11639	C	T	11: 105,005,698	T4291I	probably benign	Het
Gm21560	T	A	14: 6,218,262	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,439,639	W148*	probably null	Het
Gucy2c	T	C	6: 136,737,431	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,590,307	D14E	probably benign	Het
Hlcs	C	T	16: 94,138,940	V513M	probably benign	Het
Ido1	T	C	8: 24,589,585	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,513,365	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,755,106	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Larp4b	T	G	13: 9,149,901	F278V	probably damaging	Het
Lrch4	G	A	5: 137,636,814	R225H	probably damaging	Het
Mapkbp1	T	C	2: 120,014,771	Y378H	probably benign	Het
Nme9	T	A	9: 99,459,722	C42S	probably damaging	Het
Olfr1380	A	G	11: 49,564,476	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,164,741	T309P	probably damaging	Het
Prodh	C	T	16: 18,080,970	C207Y	probably benign	Het
Prom1	A	T	5: 44,055,887	L168Q	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Shkbp1	T	C	7: 27,352,067	Q189R	probably benign	Het
Skint4	T	C	4: 112,143,824	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,691,744	A100T	probably damaging	Het
Specc1	A	T	11: 62,146,318	E699D	probably benign	Het
St5	A	G	7: 109,527,784	S907P	probably damaging	Het
Syt6	C	A	3: 103,575,363		probably benign	Het
Tg	A	G	15: 66,685,397	E969G	possibly damaging	Het
Tie1	A	C	4: 118,479,632	H632Q	probably benign	Het
Trappc12	A	G	12: 28,746,418	W372R	probably damaging	Het
Trav7d-4	T	C	14: 52,770,149	V33A	probably damaging	Het
Ugdh	A	T	5: 65,418,543	N324K	probably damaging	Het
Vmn2r79	G	T	7: 87,003,614		probably null	Het
Washc2	T	C	6: 116,262,472	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,191,051	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 73,974,618	C158R	probably damaging	Het
Zfp128	T	C	7: 12,890,437	L244P	probably damaging	Het
Zfp445	T	A	9: 122,861,822	I103F	probably damaging	Het
Zfp980	A	T	4: 145,701,429	T243S	probably benign	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
IGL03149:Clspn	APN	4	126576502	splice site	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
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

Predicted Primers

PCR Primer
(F):5'- GTATATCATGCTTTCTGCGCAC -3'
(R):5'- GCGTCTTGCTGCTTAGAAGG -3'

Sequencing Primer
(F):5'- TCCCCAATCCTGACAGCTG -3'
(R):5'- CTGCTTAGAAGGGCTCGTTAGAATAC -3'

Posted On

2022-04-18