Incidental Mutation 'R4257:Ckm'
| ID |
321859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ckm
|
| Ensembl Gene |
ENSMUSG00000030399 |
| Gene Name |
creatine kinase, muscle |
| Synonyms |
Ckmm, M-CK, MCK |
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19145019-19155508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19155279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 372
(S372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003643]
[ENSMUST00000085715]
[ENSMUST00000208710]
[ENSMUST00000209058]
|
| AlphaFold |
P07310 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003643
AA Change: S303P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399
AA Change: S303P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-gua_PtransN
|
24 |
99 |
5.2e-38 |
PFAM |
|
Pfam:ATP-gua_Ptrans
|
120 |
367 |
2.6e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000047020
|
| SMART Domains |
Protein: ENSMUSP00000043987
Gene: ENSMUSG00000040705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085715
|
| SMART Domains |
Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
59 |
310 |
1.4e-109 |
SMART |
|
UBA
|
331 |
368 |
9.62e-8 |
SMART |
|
low complexity region
|
391 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
690 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
709 |
752 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208710
AA Change: S372P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209058
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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 and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in function and energy utilization of both skeletal and cardiac muscle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
probably damaging |
Het |
|
| Other mutations in Ckm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01368:Ckm
|
APN |
7 |
19,150,712 (GRCm39) |
nonsense |
probably null |
|
|
IGL01486:Ckm
|
APN |
7 |
19,155,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Ckm
|
APN |
7 |
19,148,263 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Ckm
|
UTSW |
7 |
19,155,309 (GRCm39) |
makesense |
probably null |
|
|
R0505:Ckm
|
UTSW |
7 |
19,153,377 (GRCm39) |
nonsense |
probably null |
|
|
R2042:Ckm
|
UTSW |
7 |
19,148,082 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2157:Ckm
|
UTSW |
7 |
19,155,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4515:Ckm
|
UTSW |
7 |
19,154,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Ckm
|
UTSW |
7 |
19,153,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Ckm
|
UTSW |
7 |
19,154,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Ckm
|
UTSW |
7 |
19,153,372 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6995:Ckm
|
UTSW |
7 |
19,154,156 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7212:Ckm
|
UTSW |
7 |
19,148,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9313:Ckm
|
UTSW |
7 |
19,149,398 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGAGACGTTTGCACTTGG -3'
(R):5'- GGACTTTTATTTAAGGCAGGGC -3'
Sequencing Primer
(F):5'- ACGTTTGCACTTGGGCACAG -3'
(R):5'- ACTTTTATTTAAGGCAGGGCATGGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation