Incidental Mutation 'R5363:Clspn'
| ID |
422922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
042941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5363 (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 126455579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
[ENSMUST00000129795]
[ENSMUST00000147675]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048391
AA Change: D199G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: D199G
| 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: D35G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120683
Gene: ENSMUSG00000042489
AA Change: D35G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185054
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,132,963 (GRCm39) |
I40T |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,227,035 (GRCm39) |
V597A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,114 (GRCm39) |
|
probably null |
Het |
| Ap4e1 |
G |
A |
2: 126,879,784 (GRCm39) |
|
probably null |
Het |
| Apod |
T |
C |
16: 31,129,909 (GRCm39) |
T16A |
probably benign |
Het |
| Arrdc5 |
C |
T |
17: 56,607,138 (GRCm39) |
V36M |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,902,794 (GRCm39) |
V328A |
probably damaging |
Het |
| Bche |
A |
G |
3: 73,607,972 (GRCm39) |
Y485H |
probably damaging |
Het |
| Btbd6 |
A |
G |
12: 112,941,756 (GRCm39) |
Y356C |
probably damaging |
Het |
| Cdh4 |
A |
G |
2: 179,528,556 (GRCm39) |
T555A |
probably benign |
Het |
| Ciita |
C |
T |
16: 10,330,031 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,986 (GRCm39) |
M562K |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,858 (GRCm39) |
Q235L |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,669,410 (GRCm39) |
S1091P |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,544,297 (GRCm39) |
I323N |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,154 (GRCm39) |
N349S |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,448,666 (GRCm39) |
M338T |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Lactb2 |
A |
T |
1: 13,700,356 (GRCm39) |
I225N |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,698 (GRCm39) |
S25P |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,246,259 (GRCm39) |
V378A |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,806,097 (GRCm39) |
T1731I |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,710,660 (GRCm39) |
D121G |
probably damaging |
Het |
| Or10p21 |
C |
A |
10: 128,847,783 (GRCm39) |
P210T |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,980,146 (GRCm39) |
D72E |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,424 (GRCm39) |
D1187G |
unknown |
Het |
| Pkd1 |
T |
A |
17: 24,784,047 (GRCm39) |
Y198N |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,756,419 (GRCm39) |
N83K |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,095,630 (GRCm39) |
Q378L |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa1 |
G |
T |
13: 85,436,674 (GRCm39) |
T118K |
possibly damaging |
Het |
| Rin3 |
G |
A |
12: 102,292,093 (GRCm39) |
V97M |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,015,655 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,551,081 (GRCm39) |
I289V |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,560,103 (GRCm39) |
L443P |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,947,462 (GRCm39) |
I254F |
probably damaging |
Het |
| Spink11 |
T |
C |
18: 44,328,753 (GRCm39) |
I32V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,639,625 (GRCm39) |
E296G |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,220,498 (GRCm39) |
N410D |
probably damaging |
Het |
| Syt14 |
T |
A |
1: 192,612,971 (GRCm39) |
T610S |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,866 (GRCm39) |
I1206V |
possibly damaging |
Het |
| Tet3 |
A |
T |
6: 83,353,746 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
A |
T |
2: 117,953,147 (GRCm39) |
Q919L |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,674 (GRCm39) |
F1152L |
possibly damaging |
Het |
| Trp63 |
C |
A |
16: 25,682,468 (GRCm39) |
N176K |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,072 (GRCm39) |
E700G |
probably benign |
Het |
| Zfp446 |
G |
A |
7: 12,711,984 (GRCm39) |
R69H |
probably benign |
Het |
| Zfy2 |
C |
T |
Y: 2,106,555 (GRCm39) |
C693Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,128 (GRCm39) |
T587A |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,046,819 (GRCm39) |
C552R |
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 |
|
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'- AACCACAGCTTGAGTTTCAAAGG -3'
(R):5'- GTCTCTTCACCAAGTCCCAG -3'
Sequencing Primer
(F):5'- CCACAGCTTGAGTTTCAAAGGGTAAG -3'
(R):5'- TACAAGGGACCAAGGTTCGTTCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation