Incidental Mutation 'R3775:Ccnh'
| ID |
273563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnh
|
| Ensembl Gene |
ENSMUSG00000021548 |
| Gene Name |
cyclin H |
| Synonyms |
6330408H09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
85337504-85361850 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 85354243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022030]
[ENSMUST00000163600]
[ENSMUST00000164127]
[ENSMUST00000165077]
|
| AlphaFold |
Q61458 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022030
|
| SMART Domains |
Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
152 |
2.1e-13 |
SMART |
|
SCOP:d1jkw_2
|
162 |
287 |
8e-47 |
SMART |
|
Blast:CYCLIN
|
169 |
237 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163600
|
| SMART Domains |
Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
152 |
2.1e-13 |
SMART |
|
SCOP:d1jkw_2
|
162 |
251 |
4e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163713
|
| SMART Domains |
Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_C_2
|
1 |
65 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164127
|
| SMART Domains |
Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
62 |
152 |
2.1e-13 |
SMART |
|
Pfam:Cyclin_C_2
|
162 |
262 |
3.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165077
|
| SMART Domains |
Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1JKW|A
|
1 |
111 |
1e-72 |
PDB |
|
SCOP:d1jkw_1
|
11 |
104 |
1e-18 |
SMART |
|
Blast:CYCLIN
|
62 |
111 |
5e-25 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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 forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
probably damaging |
Het |
|
| Other mutations in Ccnh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Ccnh
|
APN |
13 |
85,354,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Ccnh
|
APN |
13 |
85,350,460 (GRCm39) |
nonsense |
probably null |
|
|
IGL02547:Ccnh
|
APN |
13 |
85,350,623 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03167:Ccnh
|
APN |
13 |
85,345,685 (GRCm39) |
splice site |
probably benign |
|
|
R0121:Ccnh
|
UTSW |
13 |
85,354,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Ccnh
|
UTSW |
13 |
85,354,254 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4748:Ccnh
|
UTSW |
13 |
85,337,758 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4905:Ccnh
|
UTSW |
13 |
85,354,254 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5696:Ccnh
|
UTSW |
13 |
85,344,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5976:Ccnh
|
UTSW |
13 |
85,338,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Ccnh
|
UTSW |
13 |
85,360,884 (GRCm39) |
missense |
probably benign |
|
|
R7841:Ccnh
|
UTSW |
13 |
85,337,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7871:Ccnh
|
UTSW |
13 |
85,359,991 (GRCm39) |
nonsense |
probably null |
|
|
R8187:Ccnh
|
UTSW |
13 |
85,337,656 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8767:Ccnh
|
UTSW |
13 |
85,356,959 (GRCm39) |
nonsense |
probably null |
|
|
R9454:Ccnh
|
UTSW |
13 |
85,350,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTTAAACTGGCAGAAGTGG -3'
(R):5'- GAATCTATTCTGACTTAGGCCTTTC -3'
Sequencing Primer
(F):5'- CTGGCAGAAGTGGTAGTAAGTTTTTC -3'
(R):5'- TCTTGCCAATGAATCTTCAATGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation