Incidental Mutation 'IGL03303:Ckmt1'
| ID |
416278 |
| 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: 0.280)
|
| Stock # |
IGL03303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121190486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 138
(T138A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000110625]
[ENSMUST00000110627]
[ENSMUST00000110628]
[ENSMUST00000125221]
[ENSMUST00000150271]
[ENSMUST00000125812]
[ENSMUST00000129130]
[ENSMUST00000128612]
[ENSMUST00000126130]
[ENSMUST00000134796]
|
| AlphaFold |
P30275 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000317
AA Change: T138A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: T138A
| 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: T138A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: T138A
| 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: ENSMUST00000110625
|
| SMART Domains |
Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110627
|
| SMART Domains |
Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
906 |
8.5e-110 |
PFAM |
|
low complexity region
|
1142 |
1160 |
N/A |
INTRINSIC |
|
coiled coil region
|
1381 |
1409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110628
|
| SMART Domains |
Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
PDB:3T99|A
|
50 |
377 |
N/A |
PDB |
|
Pfam:His_Phos_2
|
390 |
886 |
3.9e-101 |
PFAM |
|
low complexity region
|
1143 |
1161 |
N/A |
INTRINSIC |
|
coiled coil region
|
1382 |
1410 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000150271
AA Change: T138A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308
AA Change: T138A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125812
AA Change: T138A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115501
Gene: ENSMUSG00000000308
AA Change: T138A
| 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: ENSMUST00000129130
AA Change: T169A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308
AA Change: T169A
| 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 |
noncoding transcript
Transcript: ENSMUST00000153040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145380
|
| 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 |
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: ENSMUST00000134796
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
| Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
| Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
| Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
| Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
| Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
| F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
| Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
| Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
| Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
| Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
| Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
| Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
| Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
| Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
| Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
| Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
| Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
| Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
probably damaging |
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 |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation