Incidental Mutation 'IGL02243:Mylk2'
ID |
286075 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mylk2
|
Ensembl Gene |
ENSMUSG00000027470 |
Gene Name |
myosin, light polypeptide kinase 2, skeletal muscle |
Synonyms |
9830004H17Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.404)
|
Stock # |
IGL02243
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
152753272-152764988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152762473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 554
(H554R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028970]
|
AlphaFold |
Q8VCR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028970
AA Change: H554R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028970 Gene: ENSMUSG00000027470 AA Change: H554R
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |