Incidental Mutation 'IGL00807:Ccnt2'
| ID |
9470 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccnt2
|
| Ensembl Gene |
ENSMUSG00000026349 |
| Gene Name |
cyclin T2 |
| Synonyms |
2900041I18Rik, CycT2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
127701901-127732574 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 127725628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027587]
[ENSMUST00000112570]
|
| AlphaFold |
Q7TQK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027587
|
| SMART Domains |
Protein: ENSMUSP00000027587
Gene: ENSMUSG00000026349
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
42 |
141 |
4.27e-14 |
SMART |
|
CYCLIN
|
154 |
242 |
4.51e0 |
SMART |
|
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112570
|
| SMART Domains |
Protein: ENSMUSP00000108189
Gene: ENSMUSG00000026349
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
42 |
141 |
4.27e-14 |
SMART |
|
CYCLIN
|
154 |
242 |
4.51e0 |
SMART |
|
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153359
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to the 4-cell stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,285 (GRCm39) |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,886 (GRCm39) |
V2390E |
possibly damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,506 (GRCm39) |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,969,018 (GRCm39) |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 37,040,002 (GRCm39) |
T1386I |
probably benign |
Het |
| Frs2 |
A |
C |
10: 116,910,791 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
C |
11: 56,902,866 (GRCm39) |
Y3H |
probably benign |
Het |
| Iigp1c |
C |
T |
18: 60,378,483 (GRCm39) |
S6F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,123,961 (GRCm39) |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,825,008 (GRCm39) |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,563,118 (GRCm39) |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,153,619 (GRCm39) |
V436M |
probably damaging |
Het |
| Polr1has |
G |
T |
17: 37,275,813 (GRCm39) |
A132S |
probably damaging |
Het |
| Rhot1 |
C |
T |
11: 80,116,928 (GRCm39) |
H101Y |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,782,018 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,573 (GRCm39) |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Ccnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Ccnt2
|
APN |
1 |
127,731,250 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02055:Ccnt2
|
APN |
1 |
127,719,447 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02169:Ccnt2
|
APN |
1 |
127,702,126 (GRCm39) |
splice site |
probably benign |
|
|
R0526:Ccnt2
|
UTSW |
1 |
127,727,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Ccnt2
|
UTSW |
1 |
127,730,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0744:Ccnt2
|
UTSW |
1 |
127,730,131 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0833:Ccnt2
|
UTSW |
1 |
127,730,131 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0836:Ccnt2
|
UTSW |
1 |
127,730,131 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1763:Ccnt2
|
UTSW |
1 |
127,727,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2037:Ccnt2
|
UTSW |
1 |
127,731,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Ccnt2
|
UTSW |
1 |
127,702,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4585:Ccnt2
|
UTSW |
1 |
127,730,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5342:Ccnt2
|
UTSW |
1 |
127,719,470 (GRCm39) |
splice site |
silent |
|
|
R5527:Ccnt2
|
UTSW |
1 |
127,730,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5698:Ccnt2
|
UTSW |
1 |
127,730,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6606:Ccnt2
|
UTSW |
1 |
127,730,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Ccnt2
|
UTSW |
1 |
127,731,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6979:Ccnt2
|
UTSW |
1 |
127,702,873 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7512:Ccnt2
|
UTSW |
1 |
127,730,031 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8743:Ccnt2
|
UTSW |
1 |
127,702,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ccnt2
|
UTSW |
1 |
127,723,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9722:Ccnt2
|
UTSW |
1 |
127,729,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Ccnt2
|
UTSW |
1 |
127,702,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ccnt2
|
UTSW |
1 |
127,702,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ccnt2
|
UTSW |
1 |
127,730,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation