Incidental Mutation 'R4599:Clspn'
| ID |
345420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| MMRRC Submission |
041815-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4599 (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 126475253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1002
(E1002G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048391
AA Change: E1002G
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: E1002G
| 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: ENSMUST00000121439
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000128202
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Ankrd13b |
T |
C |
11: 77,362,494 (GRCm39) |
R677G |
probably benign |
Het |
| Apc |
T |
A |
18: 34,451,040 (GRCm39) |
Y2611* |
probably null |
Het |
| Apold1 |
A |
G |
6: 134,961,032 (GRCm39) |
Y162C |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,055,737 (GRCm39) |
I325V |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,325 (GRCm39) |
H239L |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,574 (GRCm39) |
H250R |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Clta |
C |
T |
4: 44,012,819 (GRCm39) |
P10S |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 127,881,921 (GRCm39) |
R20L |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dapk1 |
C |
T |
13: 60,865,861 (GRCm39) |
P153S |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Dpp6 |
G |
T |
5: 27,839,546 (GRCm39) |
G354C |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,856 (GRCm39) |
L105P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Galnt4 |
T |
A |
10: 98,945,355 (GRCm39) |
V360E |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,419,833 (GRCm39) |
C24* |
probably null |
Het |
| Gcnt2 |
G |
T |
13: 41,040,966 (GRCm39) |
V42L |
probably benign |
Het |
| Herc6 |
A |
G |
6: 57,636,698 (GRCm39) |
I805V |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,232 (GRCm39) |
R150L |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,358,024 (GRCm39) |
Y45C |
unknown |
Het |
| Krt35 |
T |
C |
11: 99,984,834 (GRCm39) |
T275A |
probably damaging |
Het |
| Laptm5 |
G |
T |
4: 130,643,316 (GRCm39) |
|
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,248,027 (GRCm39) |
S111P |
unknown |
Het |
| Med27 |
A |
G |
2: 29,414,470 (GRCm39) |
D159G |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1a |
A |
T |
10: 127,556,020 (GRCm39) |
|
probably null |
Het |
| Myo1c |
T |
C |
11: 75,559,019 (GRCm39) |
F604L |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,293,850 (GRCm39) |
K782E |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,282 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,280 (GRCm39) |
I292V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,422 (GRCm39) |
H187R |
probably damaging |
Het |
| Pcdhgb1 |
A |
T |
18: 37,814,610 (GRCm39) |
N367I |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,854,310 (GRCm39) |
I77V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,895 (GRCm39) |
E930G |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,943,817 (GRCm39) |
R662Q |
probably benign |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,971,237 (GRCm39) |
V177E |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,976,961 (GRCm39) |
S558G |
possibly damaging |
Het |
| Pspc1 |
A |
C |
14: 57,015,246 (GRCm39) |
|
probably null |
Het |
| Rilp |
T |
C |
11: 75,403,586 (GRCm39) |
S343P |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,265,107 (GRCm39) |
M194V |
probably damaging |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,324,752 (GRCm39) |
N486S |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,496,151 (GRCm39) |
I65N |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,857,601 (GRCm39) |
E230G |
probably benign |
Het |
| Spint1 |
T |
C |
2: 119,076,941 (GRCm39) |
S342P |
probably damaging |
Het |
| Stard3nl |
A |
G |
13: 19,551,923 (GRCm39) |
S214P |
probably damaging |
Het |
| Tcp10a |
A |
C |
17: 7,604,323 (GRCm39) |
T271P |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,329,831 (GRCm39) |
Y1091H |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,125 (GRCm39) |
Y375C |
probably benign |
Het |
| Tmem107 |
T |
A |
11: 68,962,274 (GRCm39) |
M77K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,481,747 (GRCm39) |
K202E |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,670,347 (GRCm39) |
P1634L |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,844 (GRCm39) |
N4402S |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,322 (GRCm39) |
I703N |
probably damaging |
Het |
| Xrcc4 |
A |
G |
13: 90,210,126 (GRCm39) |
|
probably null |
Het |
| Zp3 |
A |
T |
5: 136,013,089 (GRCm39) |
K168* |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTTTATAAACCCTCTTGTTGCC -3'
(R):5'- GCCATGAAGGACTGGTTTAAATG -3'
Sequencing Primer
(F):5'- TTGTGAGTTCAAGACCAGCC -3'
(R):5'- TGTTAATCTCGAAAAGCAGAAACC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation