Incidental Mutation 'R9669:Ccnjl'
ID |
727976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccnjl
|
Ensembl Gene |
ENSMUSG00000044707 |
Gene Name |
cyclin J-like |
Synonyms |
LOC380694 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R9669 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
43419611-43477824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 43476166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 263
(T263K)
|
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: T263K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000058111 Gene: ENSMUSG00000044707 AA Change: T263K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
T |
C |
2: 168,026,918 (GRCm39) |
K126E |
possibly damaging |
Het |
Ankrd35 |
A |
G |
3: 96,587,797 (GRCm39) |
N112S |
probably damaging |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Cfhr4 |
A |
T |
1: 139,708,872 (GRCm39) |
I12N |
probably damaging |
Het |
Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dhx57 |
T |
C |
17: 80,553,130 (GRCm39) |
I1266V |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,247,493 (GRCm39) |
D435G |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,408,794 (GRCm39) |
Y702H |
probably damaging |
Het |
Igkv10-96 |
T |
C |
6: 68,608,957 (GRCm39) |
T113A |
probably benign |
Het |
Ngdn |
A |
G |
14: 55,259,339 (GRCm39) |
K161R |
possibly damaging |
Het |
Or7d9 |
T |
A |
9: 20,197,160 (GRCm39) |
L63H |
probably damaging |
Het |
Pabpc4l |
A |
G |
3: 46,401,267 (GRCm39) |
S126P |
probably damaging |
Het |
Pcdhgc4 |
A |
G |
18: 37,949,241 (GRCm39) |
D219G |
probably damaging |
Het |
Plek |
A |
G |
11: 16,944,775 (GRCm39) |
F85S |
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,243 (GRCm39) |
Y306H |
probably damaging |
Het |
Trav13-1 |
A |
T |
14: 53,782,510 (GRCm39) |
T14S |
probably benign |
Het |
Tst |
T |
C |
15: 78,289,853 (GRCm39) |
I61V |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,583 (GRCm39) |
E198G |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,268,499 (GRCm39) |
I910V |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,656,007 (GRCm39) |
V784A |
probably damaging |
Het |
Zkscan5 |
A |
G |
5: 145,142,136 (GRCm39) |
H11R |
probably benign |
Het |
|
Other mutations in Ccnjl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Ccnjl
|
APN |
11 |
43,474,023 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
R9737:Ccnjl
|
UTSW |
11 |
43,476,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGTAAGTCGATAGCCGTGG -3'
(R):5'- CAGGACACATATCCAAGGGC -3'
Sequencing Primer
(F):5'- CCGTGGCTGTGTTATAATGTGTCATC -3'
(R):5'- ATGGACCAGTGTCTCCTGAGAG -3'
|
Posted On |
2022-10-06 |