Incidental Mutation 'IGL02368:Clspn'
ID 290801
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 # IGL02368
Quality Score
Status
Chromosome 4
Chromosomal Location 126450728-126487696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126459900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 207 (S207P)
Ref Sequence ENSEMBL: ENSMUSP00000120683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048391] [ENSMUST00000129795]
AlphaFold Q80YR7
Predicted Effect probably benign
Transcript: ENSMUST00000048391
AA Change: S376P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: S376P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: S207P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: S207P

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A G 18: 69,083,060 (GRCm39) probably benign Het
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Aldh4a1 G A 4: 139,375,511 (GRCm39) W540* probably null Het
Antxr2 G A 5: 98,097,057 (GRCm39) P352L probably damaging Het
Atic C T 1: 71,603,724 (GRCm39) probably benign Het
Cfhr1 A G 1: 139,475,551 (GRCm39) probably benign Het
Depdc1b A C 13: 108,500,113 (GRCm39) T209P probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Eya2 T A 2: 165,605,638 (GRCm39) D347E probably damaging Het
Gm10748 G T 3: 5,280,061 (GRCm39) probably benign Het
Gm17079 T C 14: 51,930,524 (GRCm39) N107S possibly damaging Het
Gpr68 A G 12: 100,845,026 (GRCm39) F173L probably damaging Het
Hgf G T 5: 16,769,792 (GRCm39) V89F possibly damaging Het
Igsf10 A T 3: 59,235,652 (GRCm39) S1510T probably benign Het
Il4 A T 11: 53,503,463 (GRCm39) N22K probably damaging Het
Izumo2 T G 7: 44,358,261 (GRCm39) L32R probably damaging Het
Mark2 A G 19: 7,261,855 (GRCm39) L359P probably damaging Het
Myo15b A G 11: 115,767,828 (GRCm39) K1376R probably benign Het
Ncam1 G A 9: 49,454,383 (GRCm39) R543* probably null Het
Pax2 A G 19: 44,823,848 (GRCm39) N347S possibly damaging Het
Ppargc1a A G 5: 51,631,498 (GRCm39) L377P probably benign Het
Pum3 A G 19: 27,403,357 (GRCm39) V48A probably benign Het
Rad1 T C 15: 10,493,337 (GRCm39) Y255H probably benign Het
Rimbp2 C T 5: 128,865,218 (GRCm39) probably null Het
Rpn2 A G 2: 157,144,328 (GRCm39) N330S probably benign Het
Rptn A G 3: 93,304,478 (GRCm39) S604G probably benign Het
Rragc A G 4: 123,814,904 (GRCm39) D200G probably benign Het
Slco4a1 T G 2: 180,114,921 (GRCm39) F615V probably damaging Het
Snx2 T C 18: 53,322,793 (GRCm39) S59P probably benign Het
Timp4 A T 6: 115,223,360 (GRCm39) probably null Het
Tln2 A G 9: 67,148,092 (GRCm39) probably benign Het
Txnrd1 C A 10: 82,731,808 (GRCm39) probably null Het
Other mutations in Clspn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16