Incidental Mutation 'IGL01971:Ckmt1'
ID |
182550 |
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 # |
IGL01971
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121194064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 409
(I409N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000125221]
[ENSMUST00000125812]
[ENSMUST00000126130]
[ENSMUST00000128612]
[ENSMUST00000129136]
[ENSMUST00000129130]
[ENSMUST00000150271]
|
AlphaFold |
P30275 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000317
AA Change: I409N
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000000317 Gene: ENSMUSG00000000308 AA Change: I409N
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: I409N
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000077349 Gene: ENSMUSG00000000308 AA Change: I409N
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: ENSMUST00000145380
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129136
|
SMART Domains |
Protein: ENSMUSP00000118211 Gene: ENSMUSG00000033498
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
49 |
N/A |
INTRINSIC |
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
Ankmy2 |
A |
T |
12: 36,243,792 (GRCm39) |
K336* |
probably null |
Het |
Areg |
A |
G |
5: 91,288,870 (GRCm39) |
T59A |
probably benign |
Het |
Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
Galnt2l |
G |
A |
8: 125,070,081 (GRCm39) |
V499M |
probably benign |
Het |
Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
Osbp |
T |
C |
19: 11,967,999 (GRCm39) |
V636A |
probably benign |
Het |
Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
Utp23 |
C |
A |
15: 51,745,671 (GRCm39) |
A57E |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
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 |
IGL01403:Ckmt1
|
APN |
2 |
121,193,447 (GRCm39) |
unclassified |
probably benign |
|
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 |
2014-05-07 |