Incidental Mutation 'R0035:Clspn'
| ID |
19403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
126556935-126593903 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 126565003 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
[ENSMUST00000129795]
[ENSMUST00000147675]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048391
AA Change: R293L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: R293L
| 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 null
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 |
probably damaging
Transcript: ENSMUST00000129795
AA Change: R124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: R124L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147675
|
| SMART Domains |
Protein: ENSMUSP00000116699
Gene: ENSMUSG00000042489
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6292 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
99% (70/71) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,788,549 (GRCm38) |
T20A |
probably benign |
Het |
| Aadacl4 |
A |
G |
4: 144,617,941 (GRCm38) |
T96A |
probably damaging |
Het |
| Abcb6 |
A |
G |
1: 75,175,007 (GRCm38) |
V473A |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,843,373 (GRCm38) |
K273N |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,315,779 (GRCm38) |
|
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,699,368 (GRCm38) |
V1142D |
probably benign |
Het |
| Akna |
T |
A |
4: 63,382,445 (GRCm38) |
H591L |
probably benign |
Het |
| Aox2 |
T |
C |
1: 58,354,422 (GRCm38) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,820,664 (GRCm38) |
|
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,891,240 (GRCm38) |
M558K |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,513,180 (GRCm38) |
V607A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,987,598 (GRCm38) |
Y2708* |
probably null |
Het |
| Cass4 |
C |
T |
2: 172,416,492 (GRCm38) |
P137S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,300,207 (GRCm38) |
E121G |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,916,682 (GRCm38) |
V31A |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,967,549 (GRCm38) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,275,313 (GRCm38) |
T230A |
probably damaging |
Het |
| Cntn1 |
T |
A |
15: 92,232,088 (GRCm38) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,672,753 (GRCm38) |
G577R |
unknown |
Het |
| Defa21 |
T |
A |
8: 21,025,768 (GRCm38) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,599,821 (GRCm38) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,683,621 (GRCm38) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,441,075 (GRCm38) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,993,864 (GRCm38) |
F328Y |
probably benign |
Het |
| Golph3 |
A |
T |
15: 12,339,690 (GRCm38) |
E96D |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,083,783 (GRCm38) |
V151A |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,926,497 (GRCm38) |
I144S |
probably damaging |
Het |
| Il1f8 |
A |
T |
2: 24,159,878 (GRCm38) |
H167L |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,473,788 (GRCm38) |
|
probably benign |
Het |
| Il25 |
A |
G |
14: 54,933,096 (GRCm38) |
E42G |
probably damaging |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,129,343 (GRCm38) |
A149V |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,485,621 (GRCm38) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,730,379 (GRCm38) |
N1167D |
probably benign |
Het |
| Lama4 |
T |
A |
10: 39,072,738 (GRCm38) |
D832E |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,435,338 (GRCm38) |
S292P |
probably damaging |
Het |
| Map6 |
C |
T |
7: 99,317,608 (GRCm38) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,284,652 (GRCm38) |
|
probably benign |
Het |
| Me3 |
C |
A |
7: 89,851,759 (GRCm38) |
H559Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,778,382 (GRCm38) |
F574L |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,945,727 (GRCm38) |
S431P |
probably damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,949,573 (GRCm38) |
K208* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,990,367 (GRCm38) |
|
probably null |
Het |
| Obp2b |
T |
C |
2: 25,738,633 (GRCm38) |
L133P |
probably damaging |
Het |
| Or14a259 |
T |
C |
7: 86,364,187 (GRCm38) |
D50G |
possibly damaging |
Het |
| Or5k1 |
A |
T |
16: 58,797,122 (GRCm38) |
C241* |
probably null |
Het |
| Osbp2 |
C |
T |
11: 3,717,997 (GRCm38) |
|
probably benign |
Het |
| Ptafr |
C |
A |
4: 132,579,553 (GRCm38) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,263,508 (GRCm38) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,655,027 (GRCm38) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,762,854 (GRCm38) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,749,932 (GRCm38) |
L781H |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,256,737 (GRCm38) |
I18N |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,841,408 (GRCm38) |
N587D |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,366,776 (GRCm38) |
K1289N |
probably benign |
Het |
| Tspyl3 |
A |
G |
2: 153,224,320 (GRCm38) |
S333P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,356,888 (GRCm38) |
V347I |
probably benign |
Het |
| Usp17le |
G |
T |
7: 104,769,062 (GRCm38) |
S291* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,368,027 (GRCm38) |
S619T |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 108,997,601 (GRCm38) |
|
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,920,205 (GRCm38) |
E102G |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,165,689 (GRCm38) |
V85I |
possibly damaging |
Het |
| Wwp1 |
A |
C |
4: 19,631,116 (GRCm38) |
I639R |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,240,175 (GRCm38) |
T1001A |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,143,747 (GRCm38) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,537,282 (GRCm38) |
G912D |
probably damaging |
Het |
|
| Other mutations in Clspn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Clspn
|
APN |
4 |
126,573,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02160:Clspn
|
APN |
4 |
126,581,510 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL02231:Clspn
|
APN |
4 |
126,559,228 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02281:Clspn
|
APN |
4 |
126,565,770 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02368:Clspn
|
APN |
4 |
126,566,107 (GRCm38) |
missense |
probably benign |
|
|
IGL03149:Clspn
|
APN |
4 |
126,576,502 (GRCm38) |
splice site |
probably benign |
|
|
Durch
|
UTSW |
4 |
126,580,962 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0012:Clspn
|
UTSW |
4 |
126,564,929 (GRCm38) |
unclassified |
probably benign |
|
|
R0035:Clspn
|
UTSW |
4 |
126,565,003 (GRCm38) |
splice site |
probably null |
|
|
R0207:Clspn
|
UTSW |
4 |
126,590,598 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0270:Clspn
|
UTSW |
4 |
126,573,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0825:Clspn
|
UTSW |
4 |
126,573,130 (GRCm38) |
splice site |
probably benign |
|
|
R1082:Clspn
|
UTSW |
4 |
126,577,779 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1349:Clspn
|
UTSW |
4 |
126,563,977 (GRCm38) |
missense |
probably benign |
|
|
R1568:Clspn
|
UTSW |
4 |
126,581,517 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1649:Clspn
|
UTSW |
4 |
126,566,435 (GRCm38) |
unclassified |
probably benign |
|
|
R1663:Clspn
|
UTSW |
4 |
126,565,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2497:Clspn
|
UTSW |
4 |
126,572,347 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R3107:Clspn
|
UTSW |
4 |
126,591,659 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3951:Clspn
|
UTSW |
4 |
126,576,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3953:Clspn
|
UTSW |
4 |
126,566,437 (GRCm38) |
frame shift |
probably null |
|
|
R3954:Clspn
|
UTSW |
4 |
126,566,437 (GRCm38) |
frame shift |
probably null |
|
|
R3956:Clspn
|
UTSW |
4 |
126,566,437 (GRCm38) |
frame shift |
probably null |
|
|
R4599:Clspn
|
UTSW |
4 |
126,581,460 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4717:Clspn
|
UTSW |
4 |
126,560,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4853:Clspn
|
UTSW |
4 |
126,566,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4854:Clspn
|
UTSW |
4 |
126,575,950 (GRCm38) |
missense |
probably benign |
|
|
R4979:Clspn
|
UTSW |
4 |
126,578,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5363:Clspn
|
UTSW |
4 |
126,561,786 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5531:Clspn
|
UTSW |
4 |
126,577,773 (GRCm38) |
missense |
probably benign |
|
|
R5614:Clspn
|
UTSW |
4 |
126,580,962 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5706:Clspn
|
UTSW |
4 |
126,578,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5806:Clspn
|
UTSW |
4 |
126,586,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6106:Clspn
|
UTSW |
4 |
126,590,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6178:Clspn
|
UTSW |
4 |
126,577,736 (GRCm38) |
splice site |
probably null |
|
|
R6223:Clspn
|
UTSW |
4 |
126,586,168 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6326:Clspn
|
UTSW |
4 |
126,565,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6398:Clspn
|
UTSW |
4 |
126,563,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6714:Clspn
|
UTSW |
4 |
126,565,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7003:Clspn
|
UTSW |
4 |
126,592,720 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7034:Clspn
|
UTSW |
4 |
126,580,982 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7358:Clspn
|
UTSW |
4 |
126,566,200 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7376:Clspn
|
UTSW |
4 |
126,590,637 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7675:Clspn
|
UTSW |
4 |
126,566,320 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8320:Clspn
|
UTSW |
4 |
126,563,950 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8517:Clspn
|
UTSW |
4 |
126,566,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8547:Clspn
|
UTSW |
4 |
126,561,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9106:Clspn
|
UTSW |
4 |
126,577,450 (GRCm38) |
intron |
probably benign |
|
|
R9223:Clspn
|
UTSW |
4 |
126,590,618 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9361:Clspn
|
UTSW |
4 |
126,585,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9527:Clspn
|
UTSW |
4 |
126,559,999 (GRCm38) |
nonsense |
probably null |
|
|
R9717:Clspn
|
UTSW |
4 |
126,564,963 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
T0975:Clspn
|
UTSW |
4 |
126,566,437 (GRCm38) |
unclassified |
probably benign |
|
|
X0014:Clspn
|
UTSW |
4 |
126,575,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Clspn
|
UTSW |
4 |
126,566,177 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGTTTCTTGGAGACAACGACTC -3'
(R):5'- CGGATGTAGCCAGTCCATTGACAAC -3'
Sequencing Primer
(F):5'- TTGGAGACAACGACTCTTCAGG -3'
(R):5'- caattacactcacatatacaccacc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation