Incidental Mutation 'IGL02231:Clspn'
| ID |
285710 |
| 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)
|
| Stock # |
IGL02231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 126453021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 11
(D11E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
[ENSMUST00000129795]
[ENSMUST00000147675]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048391
AA Change: D15E
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: D15E
| 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: ENSMUST00000123695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129795
|
| SMART Domains |
Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147675
AA Change: D11E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116699
Gene: ENSMUSG00000042489
AA Change: D11E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185054
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
T |
A |
16: 52,094,413 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
C |
11: 70,240,382 (GRCm39) |
D266E |
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,382 (GRCm39) |
V314E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,683,455 (GRCm39) |
G758R |
possibly damaging |
Het |
| Bltp2 |
G |
A |
11: 78,170,722 (GRCm39) |
G1647D |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,254,869 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,719,709 (GRCm39) |
V2429A |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,209 (GRCm39) |
T573A |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,805,849 (GRCm39) |
D50G |
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,435 (GRCm39) |
T438I |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,525,700 (GRCm39) |
V173I |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,918 (GRCm39) |
T2932A |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,292,469 (GRCm39) |
E154K |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,470 (GRCm39) |
E154V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,386,273 (GRCm39) |
L244* |
probably null |
Het |
| Itgae |
A |
T |
11: 72,981,448 (GRCm39) |
K2M |
possibly damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,723,508 (GRCm39) |
I654V |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,638,841 (GRCm39) |
R82C |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,833,041 (GRCm39) |
D305V |
probably damaging |
Het |
| Me1 |
T |
C |
9: 86,493,908 (GRCm39) |
K322E |
possibly damaging |
Het |
| Med12l |
T |
A |
3: 59,153,303 (GRCm39) |
D1109E |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,740,772 (GRCm39) |
K73E |
possibly damaging |
Het |
| Nup155 |
T |
G |
15: 8,173,548 (GRCm39) |
L881R |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,677,622 (GRCm39) |
S2T |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,676,803 (GRCm39) |
L54S |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,664,151 (GRCm39) |
E443K |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,603 (GRCm39) |
C632S |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,838,794 (GRCm39) |
V320I |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,980 (GRCm39) |
I273N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 162,119,966 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,095 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
A |
5: 130,240,816 (GRCm39) |
A312T |
probably damaging |
Het |
| Rabl6 |
T |
A |
2: 25,488,196 (GRCm39) |
K109N |
probably benign |
Het |
| Rbp7 |
C |
T |
4: 149,539,334 (GRCm39) |
|
probably null |
Het |
| Reg3a |
C |
T |
6: 78,359,224 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Rnf123 |
G |
T |
9: 107,943,598 (GRCm39) |
P546T |
probably benign |
Het |
| Rnmt |
C |
A |
18: 68,447,152 (GRCm39) |
C345* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,252,236 (GRCm39) |
S25N |
possibly damaging |
Het |
| Spata16 |
G |
T |
3: 26,967,413 (GRCm39) |
G388W |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,400,031 (GRCm39) |
R2493W |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,736,125 (GRCm39) |
D970V |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,331,441 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,628,440 (GRCm39) |
D12827E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,627,030 (GRCm39) |
L976S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,909 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
Incidental Mutation