Incidental Mutation 'R0760:Ccni'
| ID |
70043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccni
|
| Ensembl Gene |
ENSMUSG00000063015 |
| Gene Name |
cyclin I |
| Synonyms |
|
| MMRRC Submission |
038940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93329792-93354354 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93331188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 261
(V261A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058550]
[ENSMUST00000151568]
[ENSMUST00000201823]
|
| AlphaFold |
Q9Z2V9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058550
AA Change: V261A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050189
Gene: ENSMUSG00000063015
AA Change: V261A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
50 |
136 |
1.18e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151568
|
| SMART Domains |
Protein: ENSMUSP00000116224
Gene: ENSMUSG00000063015
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
50 |
136 |
1.18e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201823
AA Change: V137A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143972
Gene: ENSMUSG00000063015
AA Change: V137A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
3 |
89 |
7.4e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202150
|
| Meta Mutation Damage Score |
0.0874 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
| Validation Efficiency |
95% (39/41) |
| 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 shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
| Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
| Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
| Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
| Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
| Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
| Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
| Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
| Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly damaging |
Het |
|
| Other mutations in Ccni |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02301:Ccni
|
APN |
5 |
93,336,034 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02545:Ccni
|
APN |
5 |
93,335,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02865:Ccni
|
APN |
5 |
93,331,195 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0234:Ccni
|
UTSW |
5 |
93,350,186 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0234:Ccni
|
UTSW |
5 |
93,350,186 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0541:Ccni
|
UTSW |
5 |
93,335,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Ccni
|
UTSW |
5 |
93,350,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1656:Ccni
|
UTSW |
5 |
93,335,933 (GRCm39) |
splice site |
probably null |
|
|
R1752:Ccni
|
UTSW |
5 |
93,350,315 (GRCm39) |
start gained |
probably benign |
|
|
R1817:Ccni
|
UTSW |
5 |
93,335,967 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3551:Ccni
|
UTSW |
5 |
93,335,620 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3552:Ccni
|
UTSW |
5 |
93,335,620 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3956:Ccni
|
UTSW |
5 |
93,331,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Ccni
|
UTSW |
5 |
93,335,429 (GRCm39) |
intron |
probably benign |
|
|
R4901:Ccni
|
UTSW |
5 |
93,331,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Ccni
|
UTSW |
5 |
93,336,113 (GRCm39) |
splice site |
probably null |
|
|
R4975:Ccni
|
UTSW |
5 |
93,335,553 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7120:Ccni
|
UTSW |
5 |
93,331,190 (GRCm39) |
nonsense |
probably null |
|
|
R8923:Ccni
|
UTSW |
5 |
93,335,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Ccni
|
UTSW |
5 |
93,350,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATCGTAGAAGTCATCCACCTC -3'
(R):5'- ACCAGATGTATGTTGGAAGCGCAAG -3'
Sequencing Primer
(F):5'- CCACTTTCCGTTTAGCAGAGG -3'
(R):5'- CACGTATTTCAGAAGAAGGCTC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation