Incidental Mutation 'R5430:Mylk2'
ID |
427112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mylk2
|
Ensembl Gene |
ENSMUSG00000027470 |
Gene Name |
myosin, light polypeptide kinase 2, skeletal muscle |
Synonyms |
9830004H17Rik |
MMRRC Submission |
042996-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.404)
|
Stock # |
R5430 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
152753272-152764988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 152759468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 386
(E386V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028970]
|
AlphaFold |
Q8VCR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028970
AA Change: E386V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028970 Gene: ENSMUSG00000027470 AA Change: E386V
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 |
0.3702 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
96% (54/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
Chrna3 |
C |
T |
9: 54,920,192 (GRCm39) |
V470I |
probably damaging |
Het |
Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
Eipr1 |
A |
T |
12: 28,913,015 (GRCm39) |
N239Y |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,554,046 (GRCm39) |
E807V |
probably damaging |
Het |
Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
Syt3 |
T |
G |
7: 44,040,337 (GRCm39) |
L190R |
possibly damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
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 |
|
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 |
R6391:Mylk2
|
UTSW |
2 |
152,759,315 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGAACCAGCTGAACCATCGC -3'
(R):5'- CGTGGGGATACACTGAATAGGC -3'
Sequencing Primer
(F):5'- GCAACCTGATCCAGCTGTACG -3'
(R):5'- TGAGGCAACCTTGAGGGAGC -3'
|
Posted On |
2016-09-01 |