Incidental Mutation 'IGL03105:Mylk2'
| ID |
418930 |
| 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 # |
IGL03105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152753272-152764988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152759279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 350
(V350A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028970]
|
| AlphaFold |
Q8VCR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028970
AA Change: V350A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: V350A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
| Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
| Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
| Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
| Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
| Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,435,994 (GRCm39) |
E318* |
probably null |
Het |
| Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
| Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
| Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
| Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
| Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation