Incidental Mutation 'R6714:Clspn'
| ID |
529246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
044832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126459561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 320
(T320M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
[ENSMUST00000129795]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048391
AA Change: T320M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: T320M
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000129795
AA Change: T151M
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: T151M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
A |
T |
14: 44,741,639 (GRCm39) |
R127S |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,656,652 (GRCm39) |
M463I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,609 (GRCm39) |
I1794V |
possibly damaging |
Het |
| Coch |
A |
C |
12: 51,649,520 (GRCm39) |
D277A |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,779,966 (GRCm39) |
I3223F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,869,003 (GRCm39) |
V109I |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,570,809 (GRCm39) |
|
probably null |
Het |
| Efcab8 |
A |
G |
2: 153,631,130 (GRCm39) |
K187E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,979 (GRCm39) |
N210S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,809,878 (GRCm39) |
I2066V |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gpc5 |
C |
T |
14: 115,789,715 (GRCm39) |
Q530* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,579,926 (GRCm39) |
I1937K |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,244,302 (GRCm39) |
R269C |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,763,382 (GRCm39) |
|
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,783,297 (GRCm39) |
T310A |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,306,710 (GRCm39) |
S341N |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,005,048 (GRCm39) |
V69A |
possibly damaging |
Het |
| Myh8 |
T |
C |
11: 67,197,775 (GRCm39) |
Y1881H |
probably damaging |
Het |
| Nectin4 |
A |
T |
1: 171,198,218 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,400,459 (GRCm39) |
V562L |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,671 (GRCm39) |
I220K |
possibly damaging |
Het |
| Or6c205 |
T |
A |
10: 129,086,809 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pcdhga7 |
T |
A |
18: 37,850,330 (GRCm39) |
V779E |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,317 (GRCm39) |
H260L |
unknown |
Het |
| Qrfpr |
A |
T |
3: 36,234,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Rbl2 |
T |
A |
8: 91,833,415 (GRCm39) |
I730N |
possibly damaging |
Het |
| Rbm39 |
G |
C |
2: 156,003,538 (GRCm39) |
L281V |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,295,654 (GRCm39) |
E1074G |
unknown |
Het |
| Sfr1 |
A |
G |
19: 47,723,405 (GRCm39) |
D303G |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,546,380 (GRCm39) |
V175A |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,715,678 (GRCm39) |
L785Q |
probably damaging |
Het |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,926,212 (GRCm39) |
I694M |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,644,189 (GRCm39) |
F143L |
probably benign |
Het |
| Trpc1 |
A |
T |
9: 95,605,326 (GRCm39) |
L111Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,848,971 (GRCm39) |
V756A |
possibly damaging |
Het |
| Unc93a2 |
T |
G |
17: 7,643,937 (GRCm39) |
E124A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,917,696 (GRCm39) |
I777N |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,326,776 (GRCm39) |
E97K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,306,897 (GRCm39) |
D41G |
probably damaging |
Het |
| Zfp493 |
A |
T |
13: 67,934,499 (GRCm39) |
S151C |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,035,825 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,152 (GRCm39) |
K772R |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,239 (GRCm39) |
M1275L |
probably benign |
Het |
| Zfp811 |
G |
A |
17: 33,016,736 (GRCm39) |
H434Y |
probably 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 |
|
|
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 |
|
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'- ACGCAGGACTGTTTTCTGTC -3'
(R):5'- CCCGACTGATACTTACATGACCTAG -3'
Sequencing Primer
(F):5'- CGCAGGACTGTTTTCTGTCTCATG -3'
(R):5'- GGTGGAACTGAAAATTCTCACTGTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation