Incidental Mutation 'R9737:Ccnjl'
| ID |
731705 |
| 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 # |
R9737 (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: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,026,918 (GRCm39) |
K126E |
possibly 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 |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Epha2 |
A |
G |
4: 141,045,814 (GRCm39) |
E446G |
probably benign |
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 |
| Jhy |
T |
C |
9: 40,808,748 (GRCm39) |
E671G |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,259,339 (GRCm39) |
K161R |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,267 (GRCm39) |
S126P |
probably damaging |
Het |
| Phlpp2 |
G |
A |
8: 110,663,714 (GRCm39) |
D918N |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,651,349 (GRCm39) |
H899L |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,481,282 (GRCm39) |
S301P |
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 |
| Vmn2r99 |
A |
C |
17: 19,582,563 (GRCm39) |
E56A |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,741,813 (GRCm39) |
M373V |
probably benign |
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 |
|
|
R9669:Ccnjl
|
UTSW |
11 |
43,476,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGGGACAGAAACAGCTG -3'
(R):5'- ATGGACCAGTGTCTCCTGAGAG -3'
Sequencing Primer
(F):5'- CCTGAGTCTAGTAAGTCGATAGCC -3'
(R):5'- AACTGGGCTAGAGTTGTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation