Incidental Mutation 'IGL01141:Ckmt1'
| ID |
50618 |
| 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 # |
IGL01141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121193474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 345
(I345F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077349
(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
AA Change: I345F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: I345F
| 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
AA Change: I345F
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: I345F
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,828,556 (GRCm39) |
D1447E |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,873,491 (GRCm39) |
I788T |
probably damaging |
Het |
| Axin1 |
G |
A |
17: 26,409,015 (GRCm39) |
E672K |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,125,561 (GRCm39) |
D175G |
probably damaging |
Het |
| Cep83 |
C |
A |
10: 94,624,619 (GRCm39) |
T632K |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,633 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,128,426 (GRCm39) |
E7G |
probably benign |
Het |
| Edem2 |
A |
G |
2: 155,550,948 (GRCm39) |
Y340H |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,653 (GRCm39) |
K249R |
probably benign |
Het |
| Fndc9 |
T |
C |
11: 46,128,526 (GRCm39) |
I15T |
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,759,878 (GRCm39) |
Q300K |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,862,589 (GRCm39) |
V4050A |
possibly damaging |
Het |
| Jup |
A |
T |
11: 100,277,075 (GRCm39) |
D44E |
probably benign |
Het |
| Lingo3 |
G |
T |
10: 80,671,147 (GRCm39) |
P261Q |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,048,783 (GRCm39) |
R311W |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,598,748 (GRCm39) |
L56F |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,269 (GRCm39) |
I484T |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,440,149 (GRCm39) |
F536I |
probably damaging |
Het |
| Mrgprb1 |
T |
G |
7: 48,097,775 (GRCm39) |
T46P |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
| Or5p56 |
T |
C |
7: 107,589,758 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,162 (GRCm39) |
S178P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,165,811 (GRCm39) |
F706L |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,544,568 (GRCm39) |
T1853A |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,174,031 (GRCm39) |
F2024C |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,124,067 (GRCm39) |
P2813Q |
probably damaging |
Het |
| Riox1 |
A |
G |
12: 83,998,568 (GRCm39) |
Q368R |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,376,483 (GRCm39) |
V335A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,457 (GRCm39) |
N1020S |
possibly damaging |
Het |
| Scyl2 |
A |
G |
10: 89,476,497 (GRCm39) |
V876A |
probably benign |
Het |
| Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm39) |
F39I |
probably damaging |
Het |
| Sfxn4 |
T |
C |
19: 60,839,452 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,258,644 (GRCm39) |
|
probably benign |
Het |
| Sln |
A |
G |
9: 53,760,784 (GRCm39) |
I10V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,340,552 (GRCm39) |
E568G |
probably damaging |
Het |
| Supt7l |
G |
A |
5: 31,675,779 (GRCm39) |
P270S |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,777,300 (GRCm39) |
|
probably benign |
Het |
| Tatdn1 |
A |
T |
15: 58,781,416 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
C |
T |
5: 112,477,369 (GRCm39) |
P117L |
possibly damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,951 (GRCm39) |
M9V |
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 |
|
IGL01403:Ckmt1
|
APN |
2 |
121,193,447 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation