Incidental Mutation 'IGL00509:Ckmt2'
| ID |
4272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ckmt2
|
| Ensembl Gene |
ENSMUSG00000021622 |
| Gene Name |
creatine kinase, mitochondrial 2 |
| Synonyms |
ScCKmit, 2300008A19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
92001510-92025001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92011382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 76
(L76H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022122]
|
| AlphaFold |
Q6P8J7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022122
AA Change: L76H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: L76H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-gua_PtransN
|
58 |
133 |
3.4e-35 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
154 |
401 |
1.3e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189130
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
| Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Siglech |
A |
T |
7: 55,418,635 (GRCm39) |
D146V |
possibly damaging |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Ckmt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Ckmt2
|
APN |
13 |
92,009,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Ckmt2
|
APN |
13 |
92,009,947 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02372:Ckmt2
|
APN |
13 |
92,013,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02415:Ckmt2
|
APN |
13 |
92,011,459 (GRCm39) |
splice site |
probably benign |
|
|
IGL02714:Ckmt2
|
APN |
13 |
92,006,427 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02866:Ckmt2
|
APN |
13 |
92,006,400 (GRCm39) |
nonsense |
probably null |
|
|
R0329:Ckmt2
|
UTSW |
13 |
92,011,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0330:Ckmt2
|
UTSW |
13 |
92,011,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0593:Ckmt2
|
UTSW |
13 |
92,001,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1438:Ckmt2
|
UTSW |
13 |
92,007,971 (GRCm39) |
splice site |
probably benign |
|
|
R1529:Ckmt2
|
UTSW |
13 |
92,009,320 (GRCm39) |
missense |
probably benign |
|
|
R1616:Ckmt2
|
UTSW |
13 |
92,007,328 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2114:Ckmt2
|
UTSW |
13 |
92,003,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2117:Ckmt2
|
UTSW |
13 |
92,003,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4300:Ckmt2
|
UTSW |
13 |
92,011,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5038:Ckmt2
|
UTSW |
13 |
92,009,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5322:Ckmt2
|
UTSW |
13 |
92,009,891 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7539:Ckmt2
|
UTSW |
13 |
92,008,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Ckmt2
|
UTSW |
13 |
92,011,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8189:Ckmt2
|
UTSW |
13 |
92,003,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8258:Ckmt2
|
UTSW |
13 |
92,007,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Ckmt2
|
UTSW |
13 |
92,007,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Ckmt2
|
UTSW |
13 |
92,007,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Ckmt2
|
UTSW |
13 |
92,011,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation