Incidental Mutation 'R3925:Cdkl1'
| ID |
308252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdkl1
|
| Ensembl Gene |
ENSMUSG00000020990 |
| Gene Name |
cyclin dependent kinase like 1 |
| Synonyms |
4933411O17Rik |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69793622-69838041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69803373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 168
(R168S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021377]
|
| AlphaFold |
Q8CEQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021377
AA Change: R168S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021377
Gene: ENSMUSG00000020990
AA Change: R168S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
287 |
5.27e-105 |
SMART |
|
| Meta Mutation Damage Score |
0.5500 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
Het |
|
| Other mutations in Cdkl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01735:Cdkl1
|
APN |
12 |
69,797,514 (GRCm39) |
missense |
probably benign |
|
|
IGL01859:Cdkl1
|
APN |
12 |
69,806,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Cdkl1
|
UTSW |
12 |
69,836,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0905:Cdkl1
|
UTSW |
12 |
69,803,338 (GRCm39) |
nonsense |
probably null |
|
|
R3922:Cdkl1
|
UTSW |
12 |
69,803,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:Cdkl1
|
UTSW |
12 |
69,803,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Cdkl1
|
UTSW |
12 |
69,804,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5851:Cdkl1
|
UTSW |
12 |
69,803,338 (GRCm39) |
nonsense |
probably null |
|
|
R7183:Cdkl1
|
UTSW |
12 |
69,795,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Cdkl1
|
UTSW |
12 |
69,795,585 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7461:Cdkl1
|
UTSW |
12 |
69,803,235 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8342:Cdkl1
|
UTSW |
12 |
69,800,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Cdkl1
|
UTSW |
12 |
69,794,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8457:Cdkl1
|
UTSW |
12 |
69,794,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8827:Cdkl1
|
UTSW |
12 |
69,794,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9177:Cdkl1
|
UTSW |
12 |
69,794,100 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGCGGAAACCACTTAC -3'
(R):5'- AAGCCTGCTAATCTCCTGCC -3'
Sequencing Primer
(F):5'- GGAAACCACTTACCCAGGGTTTTC -3'
(R):5'- CTTGGCTATAGATTAACACCCAAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation