Incidental Mutation 'R3951:Clspn'
ID |
307923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clspn
|
Ensembl Gene |
ENSMUSG00000042489 |
Gene Name |
claspin |
Synonyms |
C85083, E130314M08Rik |
MMRRC Submission |
040828-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3951 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126470172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 814
(E814G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
|
AlphaFold |
Q80YR7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048391
AA Change: E814G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045344 Gene: ENSMUSG00000042489 AA Change: E814G
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 |
unknown
Transcript: ENSMUST00000126512
AA Change: E302G
|
SMART Domains |
Protein: ENSMUSP00000119437 Gene: ENSMUSG00000042489 AA Change: E302G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146944
|
Meta Mutation Damage Score |
0.1716 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (55/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,190,660 (GRCm39) |
S112C |
probably damaging |
Het |
Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
probably benign |
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 |
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 |
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'- CTCGGGTTCTGTTGACAGTAC -3'
(R):5'- AGACTAATGGCCAGGACACC -3'
Sequencing Primer
(F):5'- GACAGTACATTGTCTTCCTCACTGTG -3'
(R):5'- AGGACACCTTCTCTTTCTCAGAAGAG -3'
|
Posted On |
2015-04-17 |