Incidental Mutation 'R1311:Ckb'
ID |
157943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ckb
|
Ensembl Gene |
ENSMUSG00000001270 |
Gene Name |
creatine kinase, brain |
Synonyms |
B-CK, Ck-3 |
MMRRC Submission |
039377-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1311 (G1)
|
Quality Score |
128 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111635795-111638772 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TCCACCACCA to TCCACCA
at 111636079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001304]
|
AlphaFold |
Q04447 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001304
|
SMART Domains |
Protein: ENSMUSP00000001304 Gene: ENSMUSG00000001270
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
Validation Efficiency |
98% (42/43) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
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 |
R1065:Ckb
|
UTSW |
12 |
111,637,681 (GRCm39) |
missense |
probably benign |
0.07 |
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'- TCAGTGTCAGCAACAGCTTAGCC -3'
(R):5'- AGAAGGTGCAGGTGTTGTCCTCAG -3'
Sequencing Primer
(F):5'- TCTCTACAGCGAGGCTAAGG -3'
(R):5'- GTGTTGTCCTCAGCCCCG -3'
|
Posted On |
2014-02-18 |