Incidental Mutation 'R1590:Ckmt1'
| ID |
177784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ckmt1
|
| Ensembl Gene |
ENSMUSG00000000308 |
| Gene Name |
creatine kinase, mitochondrial 1, ubiquitous |
| Synonyms |
Mt-CK, mi-CK, UbCKmit |
| MMRRC Submission |
039627-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R1590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121194003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 389
(D389N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000317]
[ENSMUST00000038389]
[ENSMUST00000078222]
[ENSMUST00000125221]
[ENSMUST00000125812]
[ENSMUST00000126130]
[ENSMUST00000128612]
[ENSMUST00000129130]
[ENSMUST00000129136]
[ENSMUST00000150271]
|
| AlphaFold |
P30275 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000317
AA Change: D389N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: D389N
| 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 |
possibly damaging
Transcript: ENSMUST00000078222
AA Change: D389N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: D389N
| 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.2930 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
97% (69/71) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,322,370 (GRCm39) |
S95P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,816,397 (GRCm39) |
Y239C |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,617,512 (GRCm39) |
S601P |
probably damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,225,402 (GRCm39) |
T89A |
probably benign |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Brme1 |
A |
T |
8: 84,893,715 (GRCm39) |
Q294L |
probably benign |
Het |
| Btnl2 |
A |
T |
17: 34,580,114 (GRCm39) |
I216F |
possibly damaging |
Het |
| Cabs1 |
A |
T |
5: 88,127,490 (GRCm39) |
H47L |
probably damaging |
Het |
| Ccdc68 |
T |
A |
18: 70,073,251 (GRCm39) |
D66E |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,392 (GRCm39) |
D333G |
possibly damaging |
Het |
| Dact1 |
G |
T |
12: 71,364,349 (GRCm39) |
V340F |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,412,024 (GRCm39) |
T246A |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,313,580 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,613,746 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,133,707 (GRCm39) |
T795A |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,202 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,333,678 (GRCm39) |
T271A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
| Gimap7 |
G |
A |
6: 48,700,953 (GRCm39) |
V180M |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,275,833 (GRCm39) |
H531R |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,399,235 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,140,203 (GRCm39) |
Y1061C |
probably benign |
Het |
| Ipo11 |
T |
C |
13: 107,023,225 (GRCm39) |
Y420C |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,712,163 (GRCm39) |
|
probably null |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,606,072 (GRCm39) |
M243K |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,297,107 (GRCm39) |
|
probably null |
Het |
| Mag |
T |
C |
7: 30,601,277 (GRCm39) |
E439G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,332,375 (GRCm39) |
F1231I |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,986,780 (GRCm39) |
Q204* |
probably null |
Het |
| Mpl |
A |
C |
4: 118,301,221 (GRCm39) |
L548R |
probably damaging |
Het |
| Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,023,132 (GRCm39) |
Q87* |
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,020,522 (GRCm39) |
Y22C |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,523,197 (GRCm39) |
I232L |
possibly damaging |
Het |
| Or2a52 |
A |
G |
6: 43,144,846 (GRCm39) |
N285D |
probably damaging |
Het |
| Or8g17 |
T |
C |
9: 38,930,253 (GRCm39) |
N195D |
probably benign |
Het |
| Or9s13 |
G |
A |
1: 92,548,467 (GRCm39) |
V280M |
possibly damaging |
Het |
| Parp2 |
C |
T |
14: 51,048,001 (GRCm39) |
P76S |
probably benign |
Het |
| Pick1 |
C |
T |
15: 79,129,501 (GRCm39) |
H169Y |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,750,089 (GRCm39) |
F164L |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,659,583 (GRCm39) |
D422G |
possibly damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,761 (GRCm39) |
C500F |
probably benign |
Het |
| Sbno1 |
A |
C |
5: 124,522,567 (GRCm39) |
N1083K |
possibly damaging |
Het |
| Septin7 |
C |
T |
9: 25,188,900 (GRCm39) |
S77F |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,314 (GRCm39) |
V264A |
possibly damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,926,598 (GRCm39) |
S576N |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,930,512 (GRCm39) |
E530* |
probably null |
Het |
| Svs5 |
A |
G |
2: 164,079,578 (GRCm39) |
S110P |
possibly damaging |
Het |
| Tmbim7 |
G |
T |
5: 3,715,338 (GRCm39) |
|
probably null |
Het |
| Tpgs2 |
T |
C |
18: 25,273,630 (GRCm39) |
D177G |
probably damaging |
Het |
| Uba1y |
T |
A |
Y: 826,893 (GRCm39) |
F516L |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,943,632 (GRCm39) |
V211A |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,301 (GRCm39) |
I8N |
probably damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,496 (GRCm39) |
M429I |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,349 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGATAAGGCAGTGAGTGAGCCTC -3'
(R):5'- ACGCCTCTTGCCATCATGAATAACC -3'
Sequencing Primer
(F):5'- accagcagaagcaagacag -3'
(R):5'- GCTGCAACATAATGTGGAGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation