Incidental Mutation 'R5632:Ckmt1'
| ID |
439898 |
| 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 |
043283-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R5632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121188257-121194218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121191073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 162
(S162T)
|
| 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 damaging
Transcript: ENSMUST00000000317
AA Change: S162T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000317
Gene: ENSMUSG00000000308
AA Change: S162T
| 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 damaging
Transcript: ENSMUST00000078222
AA Change: S162T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077349
Gene: ENSMUSG00000000308
AA Change: S162T
| 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 |
possibly damaging
Transcript: ENSMUST00000129130
AA Change: S193T
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123130
Gene: ENSMUSG00000000308
AA Change: S193T
| 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 damaging
Transcript: ENSMUST00000150271
AA Change: S162T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120507
Gene: ENSMUSG00000000308
AA Change: S162T
| 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 |
noncoding transcript
Transcript: ENSMUST00000145380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153040
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,664,076 (GRCm39) |
T7A |
probably benign |
Het |
| Adam33 |
T |
G |
2: 130,895,362 (GRCm39) |
D619A |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,469,276 (GRCm39) |
T212A |
probably benign |
Het |
| Aldh3b3 |
C |
T |
19: 4,018,522 (GRCm39) |
|
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,795 (GRCm39) |
T727K |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,817,840 (GRCm39) |
T43A |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,743,378 (GRCm39) |
N93S |
probably benign |
Het |
| Cd5l |
G |
T |
3: 87,273,414 (GRCm39) |
E128* |
probably null |
Het |
| Cep97 |
T |
C |
16: 55,735,946 (GRCm39) |
D284G |
probably benign |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cpeb4 |
A |
G |
11: 31,839,877 (GRCm39) |
D53G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,145,575 (GRCm39) |
S1485R |
probably damaging |
Het |
| Dcaf5 |
G |
A |
12: 80,444,526 (GRCm39) |
A189V |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,111,936 (GRCm39) |
G1355S |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,623,344 (GRCm39) |
P441S |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,486 (GRCm39) |
L74P |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,975 (GRCm39) |
T158A |
probably benign |
Het |
| Hcar2 |
T |
A |
5: 124,002,532 (GRCm39) |
T324S |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,784,580 (GRCm39) |
I222V |
possibly damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,501 (GRCm39) |
|
probably benign |
Het |
| Il20 |
T |
C |
1: 130,835,165 (GRCm39) |
E151G |
probably benign |
Het |
| Jarid2 |
A |
G |
13: 45,049,766 (GRCm39) |
E236G |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,833 (GRCm39) |
S845P |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,007,636 (GRCm39) |
Y846C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,672,512 (GRCm39) |
V599A |
probably benign |
Het |
| Lrrc8b |
T |
A |
5: 105,628,163 (GRCm39) |
S170T |
possibly damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,428 (GRCm39) |
K263R |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,553,463 (GRCm39) |
K784E |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,367,170 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,229,060 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ndufs1 |
C |
T |
1: 63,189,218 (GRCm39) |
A536T |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,768 (GRCm39) |
I362V |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,805,689 (GRCm39) |
L178P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,169,985 (GRCm39) |
T707M |
probably benign |
Het |
| Or51f2 |
A |
C |
7: 102,527,004 (GRCm39) |
S226R |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,573 (GRCm39) |
V298E |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,613 (GRCm39) |
V156A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,964,504 (GRCm39) |
S224T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,058 (GRCm39) |
T957A |
probably damaging |
Het |
| Pex7 |
A |
T |
10: 19,764,483 (GRCm39) |
D153E |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,148,477 (GRCm39) |
E139G |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,420,214 (GRCm39) |
Y269H |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,304,640 (GRCm39) |
F72L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sft2d2 |
T |
C |
1: 165,012,657 (GRCm39) |
T80A |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,829,141 (GRCm39) |
I583M |
possibly damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,933,957 (GRCm39) |
M49V |
probably benign |
Het |
| Smarcb1 |
G |
A |
10: 75,740,252 (GRCm39) |
Q309* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,256,006 (GRCm39) |
V294E |
probably benign |
Het |
| Stoml1 |
C |
A |
9: 58,160,653 (GRCm39) |
P35Q |
probably damaging |
Het |
| Timm10b |
G |
C |
7: 105,290,329 (GRCm39) |
R42P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,203 (GRCm39) |
S211T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,536,164 (GRCm39) |
T26738A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,452 (GRCm39) |
Y474N |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,336,732 (GRCm39) |
F1552L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
A |
C |
6: 91,371,637 (GRCm39) |
Y108* |
probably null |
Het |
| Zfp512b |
C |
T |
2: 181,227,461 (GRCm39) |
R56K |
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 |
|
|
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 |
|
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'- GCTGTACCCAAAGTGAGAAATGTG -3'
(R):5'- AATCCCGTTCCCTGTCAAG -3'
Sequencing Primer
(F):5'- GGAGAAATGACCACAGTGTTTTC -3'
(R):5'- TGTCAAGGGCCCTCACATC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation