Incidental Mutation 'R0693:Ccnj'
| ID |
63414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnj
|
| Ensembl Gene |
ENSMUSG00000025010 |
| Gene Name |
cyclin J |
| Synonyms |
D430039C20Rik |
| MMRRC Submission |
038878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R0693 (G1)
|
| Quality Score |
91 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40819723-40837016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40825551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 87
(L87H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025983]
[ENSMUST00000119316]
[ENSMUST00000120057]
|
| AlphaFold |
Q3TZI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025983
AA Change: L87H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025983
Gene: ENSMUSG00000025010
AA Change: L87H
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
45 |
136 |
1.59e-13 |
SMART |
|
Cyclin_C
|
145 |
282 |
7.02e-21 |
SMART |
|
CYCLIN
|
153 |
248 |
2.1e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119316
AA Change: L87H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112643
Gene: ENSMUSG00000025010
AA Change: L87H
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
45 |
136 |
1.59e-13 |
SMART |
|
Cyclin_C
|
145 |
282 |
7.02e-21 |
SMART |
|
CYCLIN
|
153 |
248 |
2.1e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120057
AA Change: L87H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113712
Gene: ENSMUSG00000025010
AA Change: L87H
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
45 |
136 |
1.59e-13 |
SMART |
|
Cyclin_C
|
145 |
270 |
6.99e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
A |
T |
9: 42,929,697 (GRCm39) |
N199K |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gbgt1 |
G |
A |
2: 28,394,842 (GRCm39) |
G160D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,188 (GRCm39) |
D477G |
probably benign |
Het |
| Gp1ba |
T |
C |
11: 70,531,284 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,943 (GRCm39) |
T492S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,027 (GRCm39) |
T78A |
possibly damaging |
Het |
| Klhl9 |
T |
G |
4: 88,638,527 (GRCm39) |
K571N |
probably benign |
Het |
| Msl3l2 |
G |
A |
10: 55,991,947 (GRCm39) |
R224Q |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,410,034 (GRCm39) |
T50A |
possibly damaging |
Het |
| Or7g32 |
G |
A |
9: 19,389,268 (GRCm39) |
Q90* |
probably null |
Het |
| Or8b40 |
A |
G |
9: 38,027,325 (GRCm39) |
T78A |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,572,378 (GRCm39) |
Q426L |
probably benign |
Het |
| Rnf215 |
G |
A |
11: 4,090,401 (GRCm39) |
|
probably null |
Het |
| Sp100 |
T |
A |
1: 85,594,726 (GRCm39) |
|
probably null |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,570 (GRCm39) |
T263M |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,915,636 (GRCm39) |
T1966M |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,667,609 (GRCm39) |
Y268C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,402,637 (GRCm39) |
T2477A |
probably damaging |
Het |
|
| Other mutations in Ccnj |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01903:Ccnj
|
APN |
19 |
40,834,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02584:Ccnj
|
APN |
19 |
40,833,185 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0220:Ccnj
|
UTSW |
19 |
40,833,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0452:Ccnj
|
UTSW |
19 |
40,833,508 (GRCm39) |
splice site |
probably null |
|
|
R1600:Ccnj
|
UTSW |
19 |
40,833,101 (GRCm39) |
splice site |
probably benign |
|
|
R2237:Ccnj
|
UTSW |
19 |
40,834,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2258:Ccnj
|
UTSW |
19 |
40,834,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2879:Ccnj
|
UTSW |
19 |
40,833,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Ccnj
|
UTSW |
19 |
40,833,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Ccnj
|
UTSW |
19 |
40,834,451 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6528:Ccnj
|
UTSW |
19 |
40,820,529 (GRCm39) |
splice site |
probably null |
|
|
R6830:Ccnj
|
UTSW |
19 |
40,833,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Ccnj
|
UTSW |
19 |
40,825,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Ccnj
|
UTSW |
19 |
40,833,394 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8472:Ccnj
|
UTSW |
19 |
40,833,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8977:Ccnj
|
UTSW |
19 |
40,833,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCCTTCTTACAAGGGCCAATC -3'
(R):5'- TGCTGTCCCCAAATGTGTGACGAG -3'
Sequencing Primer
(F):5'- TTACAAGGGCCAATCTCCTCAG -3'
(R):5'- ggaagtggaggcagggg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation