Incidental Mutation 'R6223:Clspn'
| ID |
504131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
044354-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126479961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1101
(D1101E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048391
AA Change: D1101E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: D1101E
| 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 |
noncoding transcript
Transcript: ENSMUST00000128202
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
| Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
| Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
| Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
| Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
| Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
| Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
| Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
| Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
| Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
| Gtf3c1 |
C |
T |
7: 125,275,797 (GRCm39) |
R543K |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
| Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
| Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
| Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
| Mmel1 |
A |
G |
4: 154,956,159 (GRCm39) |
|
probably null |
Het |
| Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
| Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
| Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,561 (GRCm39) |
M424T |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
| Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,868,777 (GRCm39) |
N179S |
probably benign |
Het |
| Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
| Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
| Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
| Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
| Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
| Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
| Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,525 (GRCm39) |
R134G |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
| Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
| Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
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 |
|
|
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'- TTCCGTCTGATGAGGAGCTG -3'
(R):5'- GAACTCAGAGCATCTGTTTCTAGG -3'
Sequencing Primer
(F):5'- TCTGATGAGGAGCTGGAGAGTC -3'
(R):5'- CAGAGCATCTGTTTCTAGGCAAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation