Incidental Mutation 'R9527:Clspn'
| ID |
719306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 126453792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 72
(R72*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
[ENSMUST00000129795]
[ENSMUST00000147675]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048391
AA Change: R72*
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: R72*
| 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 |
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 null
Transcript: ENSMUST00000147675
AA Change: R68*
|
| SMART Domains |
Protein: ENSMUSP00000116699
Gene: ENSMUSG00000042489
AA Change: R68*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
| Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
| Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,637 (GRCm39) |
N38S |
probably benign |
Het |
| Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
| Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
| Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
| Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
| Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
| Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
| Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
| Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
| Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
| Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
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 |
|
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 |
|
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'- CTGGCAGTTGTGTAATCCCATAAG -3'
(R):5'- TCCAAGGAAGGAGCCTCTTG -3'
Sequencing Primer
(F):5'- CCCATAAGGTGATATATCACA -3'
(R):5'- AAGGAGCCTCTTGAGTCTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation