Incidental Mutation 'IGL03069:Cdca2'
ID |
409839 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdca2
|
Ensembl Gene |
ENSMUSG00000048922 |
Gene Name |
cell division cycle associated 2 |
Synonyms |
2610311M19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL03069
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
67913780-67953290 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 67952385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078053]
[ENSMUST00000124045]
[ENSMUST00000125212]
[ENSMUST00000132705]
[ENSMUST00000145542]
[ENSMUST00000150006]
[ENSMUST00000150768]
[ENSMUST00000163100]
[ENSMUST00000152243]
[ENSMUST00000156700]
|
AlphaFold |
Q14B71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078053
|
SMART Domains |
Protein: ENSMUSP00000077200 Gene: ENSMUSG00000034327
Domain | Start | End | E-Value | Type |
Pfam:DUF3354
|
1 |
65 |
3.5e-22 |
PFAM |
BTB
|
89 |
192 |
1.76e-16 |
SMART |
Pfam:Pentapeptide
|
253 |
292 |
1e-14 |
PFAM |
Pfam:Pentapeptide_4
|
258 |
334 |
2.7e-15 |
PFAM |
Pfam:Pentapeptide
|
288 |
327 |
6.8e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132705
|
SMART Domains |
Protein: ENSMUSP00000115633 Gene: ENSMUSG00000048922
Domain | Start | End | E-Value | Type |
Pfam:PP1_bind
|
378 |
437 |
4.3e-28 |
PFAM |
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145542
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150006
|
SMART Domains |
Protein: ENSMUSP00000117847 Gene: ENSMUSG00000048922
Domain | Start | End | E-Value | Type |
Pfam:PP1_bind
|
378 |
437 |
5.4e-28 |
PFAM |
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150768
|
SMART Domains |
Protein: ENSMUSP00000114489 Gene: ENSMUSG00000034327
Domain | Start | End | E-Value | Type |
Pfam:KHA
|
2 |
64 |
1.4e-21 |
PFAM |
BTB
|
89 |
192 |
1.76e-16 |
SMART |
Pfam:Pentapeptide
|
219 |
255 |
9.3e-8 |
PFAM |
Pfam:Pentapeptide
|
248 |
280 |
9.3e-11 |
PFAM |
Pfam:Pentapeptide
|
258 |
297 |
3e-10 |
PFAM |
Pfam:Pentapeptide
|
303 |
342 |
3.2e-13 |
PFAM |
Pfam:Pentapeptide_4
|
308 |
384 |
3.3e-13 |
PFAM |
Pfam:Pentapeptide
|
338 |
377 |
2.1e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155312
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163100
|
SMART Domains |
Protein: ENSMUSP00000127571 Gene: ENSMUSG00000048922
Domain | Start | End | E-Value | Type |
Pfam:PP1_bind
|
379 |
436 |
4.1e-27 |
PFAM |
low complexity region
|
515 |
528 |
N/A |
INTRINSIC |
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152243
|
SMART Domains |
Protein: ENSMUSP00000120440 Gene: ENSMUSG00000034327
Domain | Start | End | E-Value | Type |
Pfam:BTB_2
|
1 |
70 |
1.3e-13 |
PFAM |
Pfam:BTB
|
1 |
78 |
6.2e-7 |
PFAM |
Pfam:Pentapeptide
|
105 |
137 |
4.3e-8 |
PFAM |
Pfam:Pentapeptide
|
134 |
166 |
5.5e-11 |
PFAM |
Pfam:Pentapeptide
|
144 |
183 |
1.5e-10 |
PFAM |
Pfam:Pentapeptide_4
|
165 |
239 |
5.3e-9 |
PFAM |
Pfam:Pentapeptide
|
189 |
228 |
1.7e-13 |
PFAM |
Pfam:Pentapeptide
|
209 |
237 |
9.3e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156700
|
SMART Domains |
Protein: ENSMUSP00000115002 Gene: ENSMUSG00000034327
Domain | Start | End | E-Value | Type |
Pfam:DUF3354
|
1 |
65 |
2.5e-23 |
PFAM |
SCOP:d3kvt__
|
89 |
107 |
9e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
All alleles(24) : Gene trapped(24)
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
possibly damaging |
Het |
|
Other mutations in Cdca2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01115:Cdca2
|
APN |
14 |
67,952,146 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01413:Cdca2
|
APN |
14 |
67,915,343 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01962:Cdca2
|
APN |
14 |
67,943,172 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01982:Cdca2
|
APN |
14 |
67,915,168 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02198:Cdca2
|
APN |
14 |
67,932,445 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02208:Cdca2
|
APN |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02883:Cdca2
|
APN |
14 |
67,944,946 (GRCm39) |
missense |
probably damaging |
1.00 |
F5493:Cdca2
|
UTSW |
14 |
67,915,141 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03046:Cdca2
|
UTSW |
14 |
67,937,471 (GRCm39) |
intron |
probably benign |
|
R0254:Cdca2
|
UTSW |
14 |
67,914,627 (GRCm39) |
missense |
probably damaging |
0.99 |
R0350:Cdca2
|
UTSW |
14 |
67,950,568 (GRCm39) |
missense |
probably benign |
0.02 |
R0368:Cdca2
|
UTSW |
14 |
67,937,796 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0398:Cdca2
|
UTSW |
14 |
67,935,411 (GRCm39) |
missense |
probably damaging |
0.98 |
R0790:Cdca2
|
UTSW |
14 |
67,917,740 (GRCm39) |
missense |
probably benign |
|
R1104:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1474:Cdca2
|
UTSW |
14 |
67,952,355 (GRCm39) |
intron |
probably benign |
|
R1658:Cdca2
|
UTSW |
14 |
67,915,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1782:Cdca2
|
UTSW |
14 |
67,915,260 (GRCm39) |
missense |
probably benign |
0.22 |
R2150:Cdca2
|
UTSW |
14 |
67,952,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Cdca2
|
UTSW |
14 |
67,914,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R2155:Cdca2
|
UTSW |
14 |
67,952,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R2862:Cdca2
|
UTSW |
14 |
67,935,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R3156:Cdca2
|
UTSW |
14 |
67,935,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3840:Cdca2
|
UTSW |
14 |
67,917,720 (GRCm39) |
nonsense |
probably null |
|
R4043:Cdca2
|
UTSW |
14 |
67,941,455 (GRCm39) |
missense |
probably benign |
0.11 |
R4293:Cdca2
|
UTSW |
14 |
67,952,299 (GRCm39) |
missense |
probably benign |
0.06 |
R4679:Cdca2
|
UTSW |
14 |
67,952,415 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4777:Cdca2
|
UTSW |
14 |
67,950,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Cdca2
|
UTSW |
14 |
67,931,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4843:Cdca2
|
UTSW |
14 |
67,914,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5031:Cdca2
|
UTSW |
14 |
67,950,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Cdca2
|
UTSW |
14 |
67,917,614 (GRCm39) |
missense |
probably damaging |
0.98 |
R5331:Cdca2
|
UTSW |
14 |
67,914,920 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5490:Cdca2
|
UTSW |
14 |
67,917,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5695:Cdca2
|
UTSW |
14 |
67,943,078 (GRCm39) |
critical splice donor site |
probably null |
|
R6246:Cdca2
|
UTSW |
14 |
67,915,277 (GRCm39) |
nonsense |
probably null |
|
R6866:Cdca2
|
UTSW |
14 |
67,931,115 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6928:Cdca2
|
UTSW |
14 |
67,943,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R6955:Cdca2
|
UTSW |
14 |
67,952,453 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R6986:Cdca2
|
UTSW |
14 |
67,932,446 (GRCm39) |
missense |
probably benign |
0.27 |
R7080:Cdca2
|
UTSW |
14 |
67,935,551 (GRCm39) |
missense |
probably damaging |
0.99 |
R7092:Cdca2
|
UTSW |
14 |
67,944,800 (GRCm39) |
critical splice donor site |
probably null |
|
R7292:Cdca2
|
UTSW |
14 |
67,915,326 (GRCm39) |
nonsense |
probably null |
|
R7308:Cdca2
|
UTSW |
14 |
67,932,440 (GRCm39) |
missense |
probably benign |
|
R7310:Cdca2
|
UTSW |
14 |
67,950,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R7877:Cdca2
|
UTSW |
14 |
67,914,665 (GRCm39) |
missense |
probably benign |
|
R8012:Cdca2
|
UTSW |
14 |
67,914,821 (GRCm39) |
missense |
probably benign |
0.23 |
R8080:Cdca2
|
UTSW |
14 |
67,915,004 (GRCm39) |
nonsense |
probably null |
|
R8772:Cdca2
|
UTSW |
14 |
67,935,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R9123:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
R9125:Cdca2
|
UTSW |
14 |
67,917,762 (GRCm39) |
missense |
probably benign |
0.03 |
R9252:Cdca2
|
UTSW |
14 |
67,914,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9328:Cdca2
|
UTSW |
14 |
67,931,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R9406:Cdca2
|
UTSW |
14 |
67,937,772 (GRCm39) |
missense |
unknown |
|
R9667:Cdca2
|
UTSW |
14 |
67,915,003 (GRCm39) |
missense |
probably benign |
0.01 |
R9678:Cdca2
|
UTSW |
14 |
67,937,778 (GRCm39) |
missense |
unknown |
|
Z1088:Cdca2
|
UTSW |
14 |
67,937,747 (GRCm39) |
missense |
probably benign |
0.12 |
Z1177:Cdca2
|
UTSW |
14 |
67,917,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |