Incidental Mutation 'IGL01403:Ckmt1'
ID |
79733 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ckmt1
|
Ensembl Gene |
ENSMUSG00000000308 |
Gene Name |
creatine kinase, mitochondrial 1, ubiquitous |
Synonyms |
Mt-CK, mi-CK, UbCKmit |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.304)
|
Stock # |
IGL01403
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 121193447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000125221]
[ENSMUST00000125812]
[ENSMUST00000126130]
[ENSMUST00000128612]
[ENSMUST00000129130]
[ENSMUST00000150271]
|
AlphaFold |
P30275 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000317
|
SMART Domains |
Protein: ENSMUSP00000000317 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
58 |
133 |
5.8e-34 |
PFAM |
Pfam:ATP-gua_Ptrans
|
154 |
401 |
4.5e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038389
|
SMART Domains |
Protein: ENSMUSP00000039378 Gene: ENSMUSG00000033498
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
low complexity region
|
108 |
119 |
N/A |
INTRINSIC |
low complexity region
|
132 |
161 |
N/A |
INTRINSIC |
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
low complexity region
|
376 |
425 |
N/A |
INTRINSIC |
low complexity region
|
610 |
635 |
N/A |
INTRINSIC |
low complexity region
|
656 |
677 |
N/A |
INTRINSIC |
low complexity region
|
728 |
746 |
N/A |
INTRINSIC |
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
low complexity region
|
1168 |
1194 |
N/A |
INTRINSIC |
low complexity region
|
1287 |
1302 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1580 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078222
|
SMART Domains |
Protein: ENSMUSP00000077349 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
55 |
134 |
1.2e-37 |
PFAM |
Pfam:ATP-gua_Ptrans
|
154 |
401 |
2e-105 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125221
|
SMART Domains |
Protein: ENSMUSP00000121930 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
55 |
117 |
5.9e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125812
|
SMART Domains |
Protein: ENSMUSP00000115501 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
55 |
134 |
9.7e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126130
|
SMART Domains |
Protein: ENSMUSP00000117463 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128612
|
SMART Domains |
Protein: ENSMUSP00000115610 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
low complexity region
|
47 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153040
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145380
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129130
|
SMART Domains |
Protein: ENSMUSP00000123130 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
86 |
165 |
5.7e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150271
|
SMART Domains |
Protein: ENSMUSP00000120507 Gene: ENSMUSG00000000308
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
32 |
N/A |
INTRINSIC |
Pfam:ATP-gua_PtransN
|
55 |
134 |
3.3e-38 |
PFAM |
Pfam:ATP-gua_Ptrans
|
154 |
251 |
3.8e-34 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
Afdn |
C |
T |
17: 14,124,132 (GRCm39) |
P1761S |
probably damaging |
Het |
Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
Het |
|
Other mutations in Ckmt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01135:Ckmt1
|
APN |
2 |
121,191,631 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01141:Ckmt1
|
APN |
2 |
121,193,474 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01971:Ckmt1
|
APN |
2 |
121,194,064 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02037:Ckmt1
|
APN |
2 |
121,191,643 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02750:Ckmt1
|
APN |
2 |
121,194,096 (GRCm39) |
unclassified |
probably benign |
|
IGL03303:Ckmt1
|
APN |
2 |
121,190,486 (GRCm39) |
missense |
probably benign |
|
R0157:Ckmt1
|
UTSW |
2 |
121,193,522 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0331:Ckmt1
|
UTSW |
2 |
121,193,337 (GRCm39) |
splice site |
probably null |
|
R1590:Ckmt1
|
UTSW |
2 |
121,194,003 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1640:Ckmt1
|
UTSW |
2 |
121,190,198 (GRCm39) |
splice site |
probably null |
|
R1853:Ckmt1
|
UTSW |
2 |
121,191,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Ckmt1
|
UTSW |
2 |
121,191,712 (GRCm39) |
critical splice donor site |
probably null |
|
R4788:Ckmt1
|
UTSW |
2 |
121,190,427 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5632:Ckmt1
|
UTSW |
2 |
121,191,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5633:Ckmt1
|
UTSW |
2 |
121,194,110 (GRCm39) |
unclassified |
probably benign |
|
R5960:Ckmt1
|
UTSW |
2 |
121,194,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R6123:Ckmt1
|
UTSW |
2 |
121,194,060 (GRCm39) |
missense |
probably benign |
0.05 |
R6673:Ckmt1
|
UTSW |
2 |
121,190,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Ckmt1
|
UTSW |
2 |
121,189,374 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8100:Ckmt1
|
UTSW |
2 |
121,191,258 (GRCm39) |
missense |
probably benign |
|
R8359:Ckmt1
|
UTSW |
2 |
121,193,531 (GRCm39) |
missense |
probably benign |
0.00 |
R8508:Ckmt1
|
UTSW |
2 |
121,193,172 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8512:Ckmt1
|
UTSW |
2 |
121,191,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Ckmt1
|
UTSW |
2 |
121,191,302 (GRCm39) |
intron |
probably benign |
|
R9181:Ckmt1
|
UTSW |
2 |
121,189,870 (GRCm39) |
intron |
probably benign |
|
X0067:Ckmt1
|
UTSW |
2 |
121,191,448 (GRCm39) |
nonsense |
probably null |
|
Z1177:Ckmt1
|
UTSW |
2 |
121,190,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-11-05 |