Incidental Mutation 'R6391:Mylk2'
| ID |
515754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk2
|
| Ensembl Gene |
ENSMUSG00000027470 |
| Gene Name |
myosin, light polypeptide kinase 2, skeletal muscle |
| Synonyms |
9830004H17Rik |
| MMRRC Submission |
044540-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R6391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152753272-152764988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152759315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 362
(L362P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028970]
|
| AlphaFold |
Q8VCR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028970
AA Change: L362P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: L362P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
285 |
N/A |
INTRINSIC |
|
S_TKc
|
302 |
557 |
6.08e-87 |
SMART |
|
| Meta Mutation Damage Score |
0.8094 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
| Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
| Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
| Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
| Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
| Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
| Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
| Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
| Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
| Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,381,703 (GRCm39) |
|
probably null |
Het |
| Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,622 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
| Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
| Plk4 |
T |
A |
3: 40,763,408 (GRCm39) |
H526Q |
probably benign |
Het |
| Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
| Sh3bp2 |
G |
A |
5: 34,718,947 (GRCm39) |
V495I |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
probably damaging |
Het |
|
| Other mutations in Mylk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01870:Mylk2
|
APN |
2 |
152,757,134 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02097:Mylk2
|
APN |
2 |
152,757,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02158:Mylk2
|
APN |
2 |
152,761,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Mylk2
|
APN |
2 |
152,757,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02243:Mylk2
|
APN |
2 |
152,762,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Mylk2
|
APN |
2 |
152,764,073 (GRCm39) |
makesense |
probably null |
|
|
IGL02946:Mylk2
|
APN |
2 |
152,761,130 (GRCm39) |
nonsense |
probably null |
|
|
IGL03105:Mylk2
|
APN |
2 |
152,759,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1184:Mylk2
|
UTSW |
2 |
152,755,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1443:Mylk2
|
UTSW |
2 |
152,761,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Mylk2
|
UTSW |
2 |
152,759,527 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2496:Mylk2
|
UTSW |
2 |
152,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Mylk2
|
UTSW |
2 |
152,761,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Mylk2
|
UTSW |
2 |
152,761,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Mylk2
|
UTSW |
2 |
152,761,274 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4510:Mylk2
|
UTSW |
2 |
152,759,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Mylk2
|
UTSW |
2 |
152,759,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Mylk2
|
UTSW |
2 |
152,759,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Mylk2
|
UTSW |
2 |
152,759,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4890:Mylk2
|
UTSW |
2 |
152,762,274 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5267:Mylk2
|
UTSW |
2 |
152,755,469 (GRCm39) |
missense |
probably benign |
|
|
R5430:Mylk2
|
UTSW |
2 |
152,759,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5447:Mylk2
|
UTSW |
2 |
152,754,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6167:Mylk2
|
UTSW |
2 |
152,757,673 (GRCm39) |
splice site |
probably null |
|
|
R6327:Mylk2
|
UTSW |
2 |
152,755,613 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6913:Mylk2
|
UTSW |
2 |
152,755,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7066:Mylk2
|
UTSW |
2 |
152,753,588 (GRCm39) |
splice site |
probably null |
|
|
R7092:Mylk2
|
UTSW |
2 |
152,757,110 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7403:Mylk2
|
UTSW |
2 |
152,759,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Mylk2
|
UTSW |
2 |
152,753,346 (GRCm39) |
start gained |
probably benign |
|
|
R7443:Mylk2
|
UTSW |
2 |
152,753,346 (GRCm39) |
start gained |
probably benign |
|
|
R7453:Mylk2
|
UTSW |
2 |
152,754,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Mylk2
|
UTSW |
2 |
152,762,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Mylk2
|
UTSW |
2 |
152,757,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Mylk2
|
UTSW |
2 |
152,762,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Mylk2
|
UTSW |
2 |
152,755,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Mylk2
|
UTSW |
2 |
152,761,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Mylk2
|
UTSW |
2 |
152,759,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mylk2
|
UTSW |
2 |
152,762,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGCTCTGCTGCAGGTGC -3'
(R):5'- ATCTGCCTGACGAACACCATG -3'
Sequencing Primer
(F):5'- TCTGCTGCAGGTGCTCAGG -3'
(R):5'- ACCTCCGTCAGATGGTAGTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation