Incidental Mutation 'R1065:Ckb'
ID |
85973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ckb
|
Ensembl Gene |
ENSMUSG00000001270 |
Gene Name |
creatine kinase, brain |
Synonyms |
B-CK, Ck-3 |
MMRRC Submission |
039151-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1065 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111635795-111638772 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 111637681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 150
(E150G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001304]
|
AlphaFold |
Q04447 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001304
AA Change: E150G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000001304 Gene: ENSMUSG00000001270 AA Change: E150G
Domain | Start | End | E-Value | Type |
Pfam:ATP-gua_PtransN
|
24 |
99 |
1.9e-36 |
PFAM |
Pfam:ATP-gua_Ptrans
|
120 |
367 |
1.9e-100 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223099
|
Meta Mutation Damage Score |
0.6157 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice have abnormal hippocampal morphology with enlarged mossy fiber field size and display resistance to pharmacologically induced seizures, reduced habituation and spatial learning impairments. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd300ld2 |
T |
C |
11: 114,904,586 (GRCm39) |
T94A |
probably damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
Il1b |
G |
A |
2: 129,209,927 (GRCm39) |
T83I |
probably benign |
Het |
Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
Plat |
C |
A |
8: 23,266,879 (GRCm39) |
D290E |
probably damaging |
Het |
Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,952,636 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
Traf3ip1 |
T |
A |
1: 91,428,506 (GRCm39) |
D122E |
unknown |
Het |
Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
Other mutations in Ckb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02115:Ckb
|
APN |
12 |
111,636,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0179:Ckb
|
UTSW |
12 |
111,636,610 (GRCm39) |
missense |
probably benign |
0.00 |
R0686:Ckb
|
UTSW |
12 |
111,636,627 (GRCm39) |
missense |
probably benign |
0.42 |
R1311:Ckb
|
UTSW |
12 |
111,636,079 (GRCm39) |
small deletion |
probably benign |
|
R1481:Ckb
|
UTSW |
12 |
111,637,696 (GRCm39) |
missense |
probably benign |
0.05 |
R1888:Ckb
|
UTSW |
12 |
111,636,079 (GRCm39) |
small deletion |
probably benign |
|
R1888:Ckb
|
UTSW |
12 |
111,636,079 (GRCm39) |
small deletion |
probably benign |
|
R1891:Ckb
|
UTSW |
12 |
111,636,079 (GRCm39) |
small deletion |
probably benign |
|
R2345:Ckb
|
UTSW |
12 |
111,638,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Ckb
|
UTSW |
12 |
111,637,664 (GRCm39) |
missense |
probably benign |
0.14 |
R5934:Ckb
|
UTSW |
12 |
111,636,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6149:Ckb
|
UTSW |
12 |
111,638,248 (GRCm39) |
missense |
probably damaging |
0.96 |
R7976:Ckb
|
UTSW |
12 |
111,637,466 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9204:Ckb
|
UTSW |
12 |
111,637,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTACCATATGCCACGAGCATCC -3'
(R):5'- TACCAGCCCAGTGATGAGCACAAG -3'
Sequencing Primer
(F):5'- TAGTACCTGCCAGACAGGTC -3'
(R):5'- TGATGAGCACAAGACCGAC -3'
|
Posted On |
2013-11-18 |