Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Clspn'

282443

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 #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

126556935-126593903 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126581510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1019 (E1019K)

Ref Sequence

ENSEMBL: ENSMUSP00000045344 (fasta)

Gene Model

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

AlphaFold

Q80YR7

Predicted Effect

probably benign
Transcript: ENSMUST00000048391
AA Change: E1019K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: E1019K

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: ENSMUST00000121439

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	T	11: 29,823,593	Y621*	probably null	Het
Acat1	A	G	9: 53,591,987	V184A	probably benign	Het
Adam19	G	A	11: 46,139,695	C750Y	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cabp2	T	A	19: 4,084,868		probably benign	Het
Carmil3	T	C	14: 55,493,558	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736	D213G	probably damaging	Het
Cdh23	T	C	10: 60,597,765		probably benign	Het
Cfhr2	T	A	1: 139,810,926	D299V	probably benign	Het
Clcn7	T	C	17: 25,149,030		probably benign	Het
Ctnna3	A	G	10: 64,250,698	T350A	probably benign	Het
Dmbt1	G	A	7: 131,082,688	G638E	probably damaging	Het
Ext2	A	T	2: 93,813,584	D117E	probably benign	Het
Ffar4	T	A	19: 38,097,455	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,955,650	Q147K	probably benign	Het
Gm960	T	C	19: 4,663,584	D276G	probably damaging	Het
Heatr9	T	C	11: 83,518,825	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,171,236	A94V	probably damaging	Het
Htr5b	A	T	1: 121,528,045	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,461,837	M458L	probably benign	Het
Il23r	A	T	6: 67,423,578	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,028,801	V467M	probably damaging	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Kif27	T	A	13: 58,325,998	E728D	probably damaging	Het
Lum	T	C	10: 97,568,581	S113P	probably damaging	Het
Mkln1	A	G	6: 31,492,791		probably benign	Het
Mmp17	A	G	5: 129,595,569	D195G	possibly damaging	Het
Naa38	T	A	11: 69,396,368		probably benign	Het
Naalad2	G	A	9: 18,379,937	A191V	probably damaging	Het
Naip6	A	T	13: 100,299,425	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,421,083	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,474,417	Y153*	probably null	Het
Olfr1259	G	T	2: 89,943,805	H103Q	probably damaging	Het
Olfr1279	G	A	2: 111,306,798	V198I	probably benign	Het
Olfr1413	T	A	1: 92,573,357	L62Q	probably damaging	Het
Olfr270	A	G	4: 52,971,194	D191G	probably damaging	Het
Olfr982	A	T	9: 40,075,186	N297I	probably damaging	Het
Pik3c2a	G	A	7: 116,388,064	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,310,435	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,360,051		probably benign	Het
Prcp	G	A	7: 92,917,761	S227N	probably benign	Het
Ptprq	T	A	10: 107,653,565	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,348,440		probably benign	Het
Rcsd1	A	G	1: 165,657,579	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,273,075	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,505,771		probably null	Het
Scn2a	A	G	2: 65,730,116	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,818,575		probably benign	Het
Slc27a4	G	T	2: 29,805,962	D170Y	probably benign	Het
Tcof1	A	G	18: 60,848,743		probably benign	Het
Ticam1	T	A	17: 56,270,560	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,694,019	C1211R	probably benign	Het
Tlr2	A	T	3: 83,837,371	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,129,113		probably benign	Het
Tnxb	T	C	17: 34,714,745	S2380P	probably benign	Het
Tox	A	G	4: 6,711,537	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,140,580	F175L	possibly damaging	Het
Trim43b	A	G	9: 89,091,630	S17P	probably benign	Het
Ttc21a	G	T	9: 119,956,923	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,192,137	N261K	probably damaging	Het
Umodl1	T	C	17: 30,986,117	V562A	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vars	T	A	17: 35,001,502	I20N	probably damaging	Het
Vcan	T	C	13: 89,684,493	N3092D	probably damaging	Het
Wdr66	A	T	5: 123,256,018	E323D	unknown	Het
Zc3h6	G	T	2: 128,997,685	E139D	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
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
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

2015-04-16