Incidental Mutation 'R3107:Clspn'
ID 263614
Institutional Source Beutler Lab
Gene Symbol Clspn
Ensembl Gene ENSMUSG00000042489
Gene Name claspin
Synonyms C85083, E130314M08Rik
MMRRC Submission 040581-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3107 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126450728-126487696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126485452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1247 (D1247G)
Ref Sequence ENSEMBL: ENSMUSP00000045344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048391]
AlphaFold Q80YR7
Predicted Effect probably benign
Transcript: ENSMUST00000048391
AA Change: D1247G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: D1247G

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: ENSMUST00000128202
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A T 17: 42,977,758 (GRCm39) Y528* probably null Het
Ankrd26 A T 6: 118,533,204 (GRCm39) F198L probably benign Het
Arnt2 A G 7: 83,911,652 (GRCm39) S607P possibly damaging Het
Brd10 A T 19: 29,700,847 (GRCm39) L814H probably damaging Het
Ccdc17 T C 4: 116,455,464 (GRCm39) V269A probably benign Het
Cers1 T A 8: 70,775,286 (GRCm39) H233Q probably benign Het
Cfap54 T C 10: 92,830,545 (GRCm39) N1197S probably benign Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Ddt C T 10: 75,608,597 (GRCm39) E42K probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Dnah7b G A 1: 46,392,033 (GRCm39) G3798E probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam114a2 C A 11: 57,390,561 (GRCm39) K317N probably benign Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Gprasp1 A T X: 134,700,508 (GRCm39) M234L probably benign Het
Ibtk T C 9: 85,592,467 (GRCm39) Y997C probably damaging Het
Il12rb2 A G 6: 67,337,782 (GRCm39) V33A probably damaging Het
Ints6 T C 14: 62,998,041 (GRCm39) T23A possibly damaging Het
Itk C A 11: 46,218,291 (GRCm39) G624V probably benign Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mab21l3 T A 3: 101,734,112 (GRCm39) I109F probably damaging Het
Mov10 T C 3: 104,707,040 (GRCm39) E653G probably damaging Het
Or8b51 C T 9: 38,569,307 (GRCm39) C127Y possibly damaging Het
Plg T C 17: 12,603,316 (GRCm39) V74A probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbmxl2 G A 7: 106,809,624 (GRCm39) G303E probably damaging Het
Satb1 A T 17: 52,089,810 (GRCm39) Y346N possibly damaging Het
Serpina1a A T 12: 103,820,100 (GRCm39) I382N probably damaging Het
Slc6a2 C A 8: 93,687,906 (GRCm39) Q11K probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Sorcs1 T C 19: 50,199,088 (GRCm39) E825G possibly damaging Het
Sval1 C G 6: 41,932,876 (GRCm39) P145A probably damaging Het
Trhde C T 10: 114,427,971 (GRCm39) E442K probably damaging Het
Vmn2r61 A T 7: 41,916,491 (GRCm39) D368V possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GTGGAAATGCATCCCCTCA -3'
(R):5'- CACCATAGCAGCTGTTAGATAAGAAT -3'

Sequencing Primer
(F):5'- TCAGTACCAGGGTCAGGGTG -3'
(R):5'- AGGCACTTACTCTTCTGGCAGAG -3'
Posted On 2015-02-05