Incidental Mutation 'IGL00309:Ccnjl'
ID |
4616 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccnjl
|
Ensembl Gene |
ENSMUSG00000044707 |
Gene Name |
cyclin J-like |
Synonyms |
LOC380694 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL00309
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
43419611-43477824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43474023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 199
(K199N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050574]
[ENSMUST00000056256]
|
AlphaFold |
Q5SRT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050574
AA Change: K199N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000058111 Gene: ENSMUSG00000044707 AA Change: K199N
Domain | Start | End | E-Value | Type |
CYCLIN
|
43 |
135 |
7.96e-14 |
SMART |
Cyclin_C
|
144 |
281 |
2.52e-22 |
SMART |
CYCLIN
|
153 |
247 |
1.58e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056256
|
SMART Domains |
Protein: ENSMUSP00000062657 Gene: ENSMUSG00000045877
Domain | Start | End | E-Value | Type |
transmembrane domain
|
30 |
62 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130874
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,450,903 (GRCm39) |
|
probably benign |
Het |
Abca9 |
T |
A |
11: 110,051,342 (GRCm39) |
D118V |
probably benign |
Het |
Adgrb2 |
T |
A |
4: 129,912,598 (GRCm39) |
I1241N |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,926,608 (GRCm39) |
D126G |
probably benign |
Het |
BB014433 |
G |
T |
8: 15,092,510 (GRCm39) |
N114K |
probably benign |
Het |
Ccne2 |
T |
A |
4: 11,199,322 (GRCm39) |
V241E |
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 39,000,190 (GRCm39) |
T130A |
probably benign |
Het |
Cyp2c70 |
A |
T |
19: 40,145,270 (GRCm39) |
N395K |
probably benign |
Het |
Dst |
T |
C |
1: 34,199,733 (GRCm39) |
V67A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,085,081 (GRCm39) |
R806H |
probably damaging |
Het |
Extl3 |
G |
A |
14: 65,314,438 (GRCm39) |
P248L |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,784,555 (GRCm39) |
D205G |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,767,555 (GRCm39) |
V98L |
possibly damaging |
Het |
Gpr6 |
C |
T |
10: 40,946,812 (GRCm39) |
A257T |
probably damaging |
Het |
Mex3c |
C |
T |
18: 73,722,960 (GRCm39) |
T351M |
probably damaging |
Het |
Or10d4c |
T |
A |
9: 39,558,636 (GRCm39) |
S205T |
probably benign |
Het |
Or10g3b |
A |
G |
14: 52,587,167 (GRCm39) |
V112A |
probably benign |
Het |
Or5ar1 |
A |
T |
2: 85,671,706 (GRCm39) |
V143D |
probably benign |
Het |
Or5g26 |
A |
T |
2: 85,494,700 (GRCm39) |
V26D |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,451,743 (GRCm39) |
Y412H |
probably damaging |
Het |
Slc25a25 |
A |
T |
2: 32,309,172 (GRCm39) |
V75E |
probably benign |
Het |
Sv2c |
A |
G |
13: 96,184,937 (GRCm39) |
C247R |
probably damaging |
Het |
Trpm5 |
A |
T |
7: 142,636,728 (GRCm39) |
V403E |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,140,746 (GRCm39) |
V202A |
probably damaging |
Het |
Zscan25 |
A |
G |
5: 145,220,559 (GRCm39) |
E118G |
probably damaging |
Het |
|
Other mutations in Ccnjl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01622:Ccnjl
|
APN |
11 |
43,476,154 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01623:Ccnjl
|
APN |
11 |
43,476,154 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02268:Ccnjl
|
APN |
11 |
43,470,615 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4431001:Ccnjl
|
UTSW |
11 |
43,470,534 (GRCm39) |
small insertion |
probably benign |
|
R3434:Ccnjl
|
UTSW |
11 |
43,470,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R4867:Ccnjl
|
UTSW |
11 |
43,474,055 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4897:Ccnjl
|
UTSW |
11 |
43,470,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R5111:Ccnjl
|
UTSW |
11 |
43,447,544 (GRCm39) |
missense |
probably benign |
|
R6345:Ccnjl
|
UTSW |
11 |
43,476,165 (GRCm39) |
missense |
probably benign |
|
R7691:Ccnjl
|
UTSW |
11 |
43,474,028 (GRCm39) |
missense |
probably benign |
0.01 |
R8041:Ccnjl
|
UTSW |
11 |
43,470,538 (GRCm39) |
missense |
probably damaging |
0.97 |
R9538:Ccnjl
|
UTSW |
11 |
43,470,564 (GRCm39) |
missense |
probably benign |
|
R9669:Ccnjl
|
UTSW |
11 |
43,476,166 (GRCm39) |
missense |
probably benign |
0.01 |
R9737:Ccnjl
|
UTSW |
11 |
43,476,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-04-20 |