Incidental Mutation 'R1116:Ccnt1'
| ID |
97349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnt1
|
| Ensembl Gene |
ENSMUSG00000011960 |
| Gene Name |
cyclin T1 |
| Synonyms |
2810478G24Rik, CycT1 |
| MMRRC Submission |
039189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
R1116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
98436570-98468340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98442219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 350
(R350W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012104]
[ENSMUST00000168928]
[ENSMUST00000169707]
|
| AlphaFold |
Q9QWV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012104
AA Change: R350W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: R350W
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
43 |
142 |
5.89e-17 |
SMART |
|
SCOP:d1jkw_2
|
152 |
257 |
1e-24 |
SMART |
|
Blast:CYCLIN
|
155 |
243 |
2e-54 |
BLAST |
|
low complexity region
|
308 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
388 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168928
|
| SMART Domains |
Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
43 |
142 |
5.89e-17 |
SMART |
|
Blast:CYCLIN
|
155 |
182 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169674
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169707
AA Change: R350W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: R350W
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
43 |
142 |
5.89e-17 |
SMART |
|
SCOP:d1jkw_2
|
152 |
257 |
1e-24 |
SMART |
|
Blast:CYCLIN
|
155 |
243 |
2e-54 |
BLAST |
|
low complexity region
|
308 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
388 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170452
|
| Meta Mutation Damage Score |
0.2037 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,506,792 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,349,017 (GRCm39) |
P1028S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,768,814 (GRCm39) |
F717S |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,314,172 (GRCm39) |
Y705N |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,501 (GRCm39) |
I6V |
probably benign |
Het |
| Agps |
T |
G |
2: 75,692,269 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,749,689 (GRCm39) |
Q501* |
probably null |
Het |
| Cacna2d3 |
A |
G |
14: 28,786,278 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,518,453 (GRCm39) |
E564K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,717,554 (GRCm39) |
E1250G |
probably damaging |
Het |
| Cryz |
A |
C |
3: 154,327,240 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,029,824 (GRCm39) |
V494F |
probably benign |
Het |
| Dpep3 |
G |
T |
8: 106,705,461 (GRCm39) |
D96E |
probably damaging |
Het |
| Dyrk3 |
G |
A |
1: 131,056,919 (GRCm39) |
A418V |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,354 (GRCm39) |
N231I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,819,086 (GRCm39) |
|
probably null |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam178b |
A |
T |
1: 36,617,669 (GRCm39) |
C82* |
probably null |
Het |
| Gm1647 |
C |
T |
3: 69,064,205 (GRCm39) |
Q31* |
probably null |
Het |
| Got1 |
T |
A |
19: 43,491,413 (GRCm39) |
K346* |
probably null |
Het |
| Grid2ip |
G |
A |
5: 143,368,669 (GRCm39) |
G656D |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,126 (GRCm39) |
Y530H |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,295,978 (GRCm39) |
I381T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Marchf11 |
T |
C |
15: 26,409,381 (GRCm39) |
L360P |
probably damaging |
Het |
| Mettl17 |
T |
C |
14: 52,127,055 (GRCm39) |
V281A |
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,191,657 (GRCm39) |
D131E |
probably benign |
Het |
| Mug1 |
G |
C |
6: 121,847,604 (GRCm39) |
V661L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,951,145 (GRCm39) |
D1488E |
probably damaging |
Het |
| Nkg7 |
G |
A |
7: 43,086,878 (GRCm39) |
V51I |
probably benign |
Het |
| Nlgn1 |
A |
C |
3: 25,488,038 (GRCm39) |
S766A |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,234 (GRCm39) |
M163L |
probably benign |
Het |
| Otog |
T |
C |
7: 45,950,025 (GRCm39) |
|
probably benign |
Het |
| Pax2 |
T |
C |
19: 44,745,863 (GRCm39) |
S11P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,782,823 (GRCm39) |
D392G |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,943,966 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,600,943 (GRCm39) |
D2868G |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,309,985 (GRCm39) |
L149P |
probably damaging |
Het |
| Purg |
A |
T |
8: 33,876,773 (GRCm39) |
H137L |
probably benign |
Het |
| Slc38a8 |
A |
T |
8: 120,222,872 (GRCm39) |
L150Q |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,025 (GRCm39) |
R139S |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,400,442 (GRCm39) |
H353R |
probably benign |
Het |
| Ulbp3 |
A |
T |
10: 3,070,180 (GRCm39) |
|
noncoding transcript |
Het |
| Upk2 |
A |
G |
9: 44,365,086 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
G |
A |
15: 88,484,823 (GRCm39) |
V53I |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,362 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
C |
T |
9: 22,190,381 (GRCm39) |
E176K |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,504,559 (GRCm39) |
W140R |
possibly damaging |
Het |
|
| Other mutations in Ccnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ccnt1
|
APN |
15 |
98,462,990 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL00900:Ccnt1
|
APN |
15 |
98,452,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01798:Ccnt1
|
APN |
15 |
98,442,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02126:Ccnt1
|
APN |
15 |
98,465,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Ccnt1
|
APN |
15 |
98,444,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Lifecycle
|
UTSW |
15 |
98,463,005 (GRCm39) |
nonsense |
probably null |
|
|
R0049:Ccnt1
|
UTSW |
15 |
98,462,960 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0049:Ccnt1
|
UTSW |
15 |
98,462,960 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2063:Ccnt1
|
UTSW |
15 |
98,449,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2065:Ccnt1
|
UTSW |
15 |
98,449,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2066:Ccnt1
|
UTSW |
15 |
98,449,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2068:Ccnt1
|
UTSW |
15 |
98,449,823 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2180:Ccnt1
|
UTSW |
15 |
98,441,481 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3917:Ccnt1
|
UTSW |
15 |
98,441,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4805:Ccnt1
|
UTSW |
15 |
98,442,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4830:Ccnt1
|
UTSW |
15 |
98,441,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Ccnt1
|
UTSW |
15 |
98,465,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5320:Ccnt1
|
UTSW |
15 |
98,442,124 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5740:Ccnt1
|
UTSW |
15 |
98,442,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5870:Ccnt1
|
UTSW |
15 |
98,441,394 (GRCm39) |
nonsense |
probably null |
|
|
R6074:Ccnt1
|
UTSW |
15 |
98,441,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6413:Ccnt1
|
UTSW |
15 |
98,441,850 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6610:Ccnt1
|
UTSW |
15 |
98,462,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Ccnt1
|
UTSW |
15 |
98,463,005 (GRCm39) |
nonsense |
probably null |
|
|
R7752:Ccnt1
|
UTSW |
15 |
98,441,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7901:Ccnt1
|
UTSW |
15 |
98,441,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7988:Ccnt1
|
UTSW |
15 |
98,463,024 (GRCm39) |
splice site |
probably null |
|
|
R8699:Ccnt1
|
UTSW |
15 |
98,462,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8959:Ccnt1
|
UTSW |
15 |
98,441,096 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9143:Ccnt1
|
UTSW |
15 |
98,441,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9153:Ccnt1
|
UTSW |
15 |
98,441,159 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9331:Ccnt1
|
UTSW |
15 |
98,441,097 (GRCm39) |
nonsense |
probably null |
|
|
R9549:Ccnt1
|
UTSW |
15 |
98,441,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9684:Ccnt1
|
UTSW |
15 |
98,446,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGGGAGTCTCATTTTCAGAGC -3'
(R):5'- TGAGCATGTCAACTGCGTCTACAAG -3'
Sequencing Primer
(F):5'- AGCATACGCATACTGTGACTTC -3'
(R):5'- CTGCGTCTACAAGTGCAGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation