Incidental Mutation 'R8359:Ckmt1'
ID |
645897 |
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 |
067872-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.304)
|
Stock # |
R8359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121193531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 364
(T364S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000317
(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: T364S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000000317 Gene: ENSMUSG00000000308 AA Change: T364S
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: T364S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077349 Gene: ENSMUSG00000000308 AA Change: T364S
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,296,502 (GRCm39) |
V315D |
probably damaging |
Het |
Adgrf1 |
A |
T |
17: 43,621,286 (GRCm39) |
I508F |
probably damaging |
Het |
Atpaf2 |
T |
C |
11: 60,298,129 (GRCm39) |
D147G |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,817,409 (GRCm39) |
T1368A |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 136,043,799 (GRCm39) |
E1626V |
probably benign |
Het |
Carm1 |
G |
A |
9: 21,480,765 (GRCm39) |
V80I |
possibly damaging |
Het |
Cenpw |
T |
A |
10: 30,074,484 (GRCm39) |
D71V |
probably damaging |
Het |
Cit |
T |
A |
5: 116,122,603 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,945,583 (GRCm39) |
S844G |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,868,538 (GRCm39) |
E1380G |
probably benign |
Het |
Cyp21a1 |
A |
G |
17: 35,021,105 (GRCm39) |
|
probably null |
Het |
Dhodh |
A |
C |
8: 110,333,038 (GRCm39) |
D12E |
probably benign |
Het |
Dnali1 |
T |
A |
4: 124,957,460 (GRCm39) |
T95S |
probably damaging |
Het |
Dynlrb1 |
A |
G |
2: 155,091,870 (GRCm39) |
N93D |
probably benign |
Het |
Edem1 |
C |
T |
6: 108,823,774 (GRCm39) |
A390V |
probably benign |
Het |
Enthd1 |
T |
C |
15: 80,358,356 (GRCm39) |
D388G |
probably benign |
Het |
Fam170a |
A |
G |
18: 50,414,677 (GRCm39) |
T108A |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,233,276 (GRCm39) |
S1531P |
probably benign |
Het |
Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
Hspbap1 |
C |
A |
16: 35,645,366 (GRCm39) |
N350K |
probably benign |
Het |
Htr3b |
A |
C |
9: 48,858,596 (GRCm39) |
S94R |
probably damaging |
Het |
Ide |
A |
T |
19: 37,307,886 (GRCm39) |
V42E |
|
Het |
Igf2r |
A |
G |
17: 12,902,748 (GRCm39) |
V2434A |
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,023 (GRCm39) |
|
probably null |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,018,493 (GRCm39) |
V614I |
probably benign |
Het |
Mos |
A |
G |
4: 3,871,097 (GRCm39) |
Y240H |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,026,095 (GRCm39) |
|
probably null |
Het |
Nexn |
T |
A |
3: 151,953,998 (GRCm39) |
D166V |
probably damaging |
Het |
Or10h1b |
G |
A |
17: 33,395,895 (GRCm39) |
C173Y |
probably damaging |
Het |
Or2t47 |
G |
T |
11: 58,443,029 (GRCm39) |
T12N |
probably benign |
Het |
Or4p4 |
A |
T |
2: 88,483,332 (GRCm39) |
M279L |
probably benign |
Het |
Or5p81 |
T |
A |
7: 108,267,518 (GRCm39) |
N298K |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,180,895 (GRCm39) |
Y1061C |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,171,370 (GRCm39) |
D740G |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,273,627 (GRCm39) |
I920L |
probably benign |
Het |
Plekha2 |
A |
G |
8: 25,578,407 (GRCm39) |
I31T |
probably damaging |
Het |
Ppp1r16b |
G |
T |
2: 158,603,295 (GRCm39) |
V407L |
probably benign |
Het |
Prss50 |
A |
G |
9: 110,691,370 (GRCm39) |
I225V |
probably damaging |
Het |
Rmdn2 |
A |
T |
17: 79,935,580 (GRCm39) |
E231V |
|
Het |
Sema3c |
T |
C |
5: 17,858,726 (GRCm39) |
S42P |
possibly damaging |
Het |
Sh2d1b1 |
T |
A |
1: 170,110,693 (GRCm39) |
|
probably null |
Het |
Slc22a20 |
T |
C |
19: 6,021,554 (GRCm39) |
I483V |
probably benign |
Het |
Slc30a2 |
T |
C |
4: 134,076,690 (GRCm39) |
V275A |
probably damaging |
Het |
Slc6a3 |
T |
A |
13: 73,693,002 (GRCm39) |
F207L |
probably benign |
Het |
Slc9a1 |
A |
T |
4: 133,147,927 (GRCm39) |
Q648H |
probably damaging |
Het |
Slpi |
A |
T |
2: 164,197,975 (GRCm39) |
M1K |
probably null |
Het |
Smc5 |
A |
C |
19: 23,211,443 (GRCm39) |
S564A |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,738,238 (GRCm39) |
F542L |
probably damaging |
Het |
Sycp1 |
T |
A |
3: 102,727,909 (GRCm39) |
K901N |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,716,208 (GRCm39) |
T126S |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,667,955 (GRCm39) |
N216S |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,969,408 (GRCm39) |
D349G |
probably damaging |
Het |
Zfp180 |
C |
T |
7: 23,804,337 (GRCm39) |
A252V |
probably benign |
Het |
Zfr2 |
C |
T |
10: 81,078,653 (GRCm39) |
T295I |
possibly damaging |
Het |
Zkscan16 |
C |
T |
4: 58,957,230 (GRCm39) |
T504I |
possibly 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 |
|
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 |
|
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'- ACTGCCACTGCTGAGCAAAG -3'
(R):5'- TAGCTCTTCCATCTCTGAAAACTCG -3'
Sequencing Primer
(F):5'- CTGCCACTGCTGAGCAAAGTAAAG -3'
(R):5'- AAAACTCGTTTTCTCTTCCCTCC -3'
|
Posted On |
2020-09-02 |