Incidental Mutation 'IGL02160:Clspn'
| ID |
282443 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clspn
|
| Ensembl Gene |
ENSMUSG00000042489 |
| Gene Name |
claspin |
| Synonyms |
C85083, E130314M08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126450728-126487696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126475303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1019
(E1019K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048391]
|
| AlphaFold |
Q80YR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048391
AA Change: E1019K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045344
Gene: ENSMUSG00000042489
AA Change: E1019K
| 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 |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
G |
9: 53,503,287 (GRCm39) |
V184A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,030,522 (GRCm39) |
C750Y |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,134,868 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,731,015 (GRCm39) |
M94T |
possibly damaging |
Het |
| Ccdc107 |
A |
G |
4: 43,495,736 (GRCm39) |
D213G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,433,544 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,394,081 (GRCm39) |
E323D |
unknown |
Het |
| Cfhr2 |
T |
A |
1: 139,738,664 (GRCm39) |
D299V |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,368,004 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,086,477 (GRCm39) |
T350A |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,684,418 (GRCm39) |
G638E |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,643,929 (GRCm39) |
D117E |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,773,593 (GRCm39) |
Y621* |
probably null |
Het |
| Ffar4 |
T |
A |
19: 38,085,903 (GRCm39) |
V110D |
possibly damaging |
Het |
| Foxred2 |
G |
T |
15: 77,839,850 (GRCm39) |
Q147K |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,304,308 (GRCm39) |
A94V |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,774 (GRCm39) |
S49T |
possibly damaging |
Het |
| Il1rl1 |
A |
T |
1: 40,500,997 (GRCm39) |
M458L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,562 (GRCm39) |
N589K |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,801 (GRCm39) |
V467M |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,812 (GRCm39) |
E728D |
probably damaging |
Het |
| Lum |
T |
C |
10: 97,404,443 (GRCm39) |
S113P |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,469,726 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,672,633 (GRCm39) |
D195G |
possibly damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,194 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
A |
9: 18,291,233 (GRCm39) |
A191V |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,933 (GRCm39) |
H863Q |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,263,003 (GRCm39) |
V477A |
possibly damaging |
Het |
| Nipal3 |
G |
T |
4: 135,201,728 (GRCm39) |
Y153* |
probably null |
Het |
| Or10s1 |
A |
T |
9: 39,986,482 (GRCm39) |
N297I |
probably damaging |
Het |
| Or13d1 |
A |
G |
4: 52,971,194 (GRCm39) |
D191G |
probably damaging |
Het |
| Or4c12 |
G |
T |
2: 89,774,149 (GRCm39) |
H103Q |
probably damaging |
Het |
| Or4g16 |
G |
A |
2: 111,137,143 (GRCm39) |
V198I |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,079 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,987,299 (GRCm39) |
P541S |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,506 (GRCm39) |
D552E |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,009,475 (GRCm39) |
|
probably benign |
Het |
| Prcp |
G |
A |
7: 92,566,969 (GRCm39) |
S227N |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,489,426 (GRCm39) |
T900S |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,190,360 (GRCm39) |
|
probably benign |
Het |
| Rcsd1 |
A |
G |
1: 165,485,148 (GRCm39) |
S102P |
probably damaging |
Het |
| Rfwd3 |
T |
A |
8: 111,999,707 (GRCm39) |
N757I |
possibly damaging |
Het |
| Rnf217 |
A |
T |
10: 31,381,767 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,560,460 (GRCm39) |
D1230G |
probably damaging |
Het |
| Sdc3 |
T |
C |
4: 130,545,886 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
G |
T |
2: 29,695,974 (GRCm39) |
D170Y |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,981,815 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,577,560 (GRCm39) |
I512F |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,767 (GRCm39) |
C1211R |
probably benign |
Het |
| Tlr2 |
A |
T |
3: 83,744,678 (GRCm39) |
N468K |
possibly damaging |
Het |
| Tmod4 |
T |
C |
3: 95,036,424 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,719 (GRCm39) |
S2380P |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,713,612 (GRCm39) |
D276G |
probably damaging |
Het |
| Tox |
A |
G |
4: 6,711,537 (GRCm39) |
V309A |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,273,637 (GRCm39) |
F175L |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,973,683 (GRCm39) |
S17P |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,785,989 (GRCm39) |
L662F |
probably damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,339,951 (GRCm39) |
N261K |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,205,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,220,478 (GRCm39) |
I20N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,832,612 (GRCm39) |
N3092D |
probably damaging |
Het |
| Zc3h6 |
G |
T |
2: 128,839,605 (GRCm39) |
E139D |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation