Incidental Mutation 'IGL02252:Mylk3'
| ID |
286472 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
IGL02252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86082105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 361
(L361I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
[ENSMUST00000137290]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034133
AA Change: L361I
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: L361I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
316 |
N/A |
INTRINSIC |
|
S_TKc
|
491 |
746 |
6.93e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121972
AA Change: L298I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: L298I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
|
S_TKc
|
428 |
683 |
6.93e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122452
AA Change: L228I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: L228I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
S_TKc
|
358 |
613 |
6.93e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138825
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cardiac hypertrophy, reduced cardiac function and increased response of heart to induced stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,444,678 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
A |
T |
4: 56,741,205 (GRCm39) |
I51N |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,101 (GRCm39) |
I1119M |
probably benign |
Het |
| Apol10a |
T |
A |
15: 77,372,670 (GRCm39) |
V102D |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,889,429 (GRCm39) |
E1628G |
possibly damaging |
Het |
| Btnl2 |
C |
T |
17: 34,584,364 (GRCm39) |
S429F |
possibly damaging |
Het |
| C4bp |
C |
A |
1: 130,564,524 (GRCm39) |
D387Y |
probably damaging |
Het |
| Ceacam23 |
G |
T |
7: 17,644,457 (GRCm39) |
V525F |
possibly damaging |
Het |
| Crybg3 |
G |
T |
16: 59,372,887 (GRCm39) |
|
probably benign |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,644,753 (GRCm39) |
R1114S |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,759,813 (GRCm39) |
Q1151K |
probably benign |
Het |
| Fign |
A |
G |
2: 63,810,983 (GRCm39) |
S96P |
probably benign |
Het |
| Ggt5 |
A |
G |
10: 75,438,566 (GRCm39) |
I96V |
possibly damaging |
Het |
| Gm3238 |
A |
G |
10: 77,606,691 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
G |
T |
10: 94,131,102 (GRCm39) |
P69Q |
unknown |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,897 (GRCm39) |
N80K |
possibly damaging |
Het |
| Irgm1 |
C |
T |
11: 48,756,981 (GRCm39) |
G277S |
possibly damaging |
Het |
| Jsrp1 |
A |
G |
10: 80,644,707 (GRCm39) |
V233A |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,504,548 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,406,130 (GRCm39) |
Y565H |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,860,094 (GRCm39) |
W69* |
probably null |
Het |
| Knl1 |
A |
T |
2: 118,903,021 (GRCm39) |
Q1574L |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,613 (GRCm39) |
N232D |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,049,157 (GRCm39) |
I108V |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,595,142 (GRCm39) |
M1L |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,316,736 (GRCm39) |
R26L |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,110,523 (GRCm39) |
D440N |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,107 (GRCm39) |
A1026T |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,912 (GRCm39) |
F256I |
probably benign |
Het |
| Msantd3 |
A |
C |
4: 48,560,869 (GRCm39) |
E148D |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,293,980 (GRCm39) |
S117P |
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,398,378 (GRCm39) |
E870G |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,188,964 (GRCm39) |
T320A |
probably damaging |
Het |
| Or5p50 |
C |
A |
7: 107,422,353 (GRCm39) |
A108S |
probably benign |
Het |
| Or7g34 |
T |
A |
9: 19,478,267 (GRCm39) |
I138F |
probably damaging |
Het |
| Pard3 |
T |
G |
8: 128,125,237 (GRCm39) |
S729A |
probably benign |
Het |
| Pdzd9 |
T |
C |
7: 120,262,238 (GRCm39) |
I75V |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,216,199 (GRCm39) |
|
probably benign |
Het |
| Phf1 |
T |
A |
17: 27,154,109 (GRCm39) |
V140D |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,708 (GRCm39) |
S775P |
possibly damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,085,515 (GRCm39) |
T85S |
probably damaging |
Het |
| Sez6 |
T |
A |
11: 77,865,339 (GRCm39) |
Y659N |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,690 (GRCm39) |
L826P |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,471 (GRCm39) |
D316V |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,204 (GRCm39) |
D313G |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,986,326 (GRCm39) |
Y232H |
probably damaging |
Het |
| Sntg1 |
G |
T |
1: 8,484,452 (GRCm39) |
P456Q |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,302,841 (GRCm39) |
N783K |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,300,810 (GRCm39) |
I923F |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,067,712 (GRCm39) |
H2168L |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,539,991 (GRCm39) |
N339I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,979,139 (GRCm39) |
T129A |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,785,994 (GRCm39) |
L664P |
probably damaging |
Het |
| Ubl5 |
C |
T |
9: 20,556,923 (GRCm39) |
R56* |
probably null |
Het |
| Ubox5 |
G |
A |
2: 130,441,707 (GRCm39) |
R327W |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 38,025,138 (GRCm39) |
A546E |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,982,717 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,101 (GRCm39) |
T73I |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,531 (GRCm39) |
Y272H |
probably benign |
Het |
| Wdr43 |
T |
A |
17: 71,933,845 (GRCm39) |
D147E |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,367 (GRCm39) |
D169V |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,691,627 (GRCm39) |
N15K |
unknown |
Het |
|
| Other mutations in Mylk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Mylk3
|
APN |
8 |
86,082,155 (GRCm39) |
nonsense |
probably null |
|
|
IGL01088:Mylk3
|
APN |
8 |
86,078,586 (GRCm39) |
splice site |
probably null |
|
|
IGL01431:Mylk3
|
APN |
8 |
86,063,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01488:Mylk3
|
APN |
8 |
86,078,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01550:Mylk3
|
APN |
8 |
86,091,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Mylk3
|
APN |
8 |
86,085,946 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01877:Mylk3
|
APN |
8 |
86,085,671 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01995:Mylk3
|
APN |
8 |
86,085,890 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02003:Mylk3
|
APN |
8 |
86,085,727 (GRCm39) |
missense |
probably benign |
|
|
IGL02251:Mylk3
|
APN |
8 |
86,081,805 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02341:Mylk3
|
APN |
8 |
86,078,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Mylk3
|
APN |
8 |
86,081,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02359:Mylk3
|
APN |
8 |
86,081,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03000:Mylk3
|
APN |
8 |
86,085,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03185:Mylk3
|
APN |
8 |
86,053,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03404:Mylk3
|
APN |
8 |
86,069,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Mylk3
|
UTSW |
8 |
86,053,832 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0219:Mylk3
|
UTSW |
8 |
86,081,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0324:Mylk3
|
UTSW |
8 |
86,079,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0402:Mylk3
|
UTSW |
8 |
86,079,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Mylk3
|
UTSW |
8 |
86,081,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1711:Mylk3
|
UTSW |
8 |
86,091,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Mylk3
|
UTSW |
8 |
86,055,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1875:Mylk3
|
UTSW |
8 |
86,079,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Mylk3
|
UTSW |
8 |
86,082,028 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1916:Mylk3
|
UTSW |
8 |
86,053,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3887:Mylk3
|
UTSW |
8 |
86,078,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Mylk3
|
UTSW |
8 |
86,055,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Mylk3
|
UTSW |
8 |
86,085,689 (GRCm39) |
nonsense |
probably null |
|
|
R4796:Mylk3
|
UTSW |
8 |
86,077,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Mylk3
|
UTSW |
8 |
86,091,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5108:Mylk3
|
UTSW |
8 |
86,085,721 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5194:Mylk3
|
UTSW |
8 |
86,079,495 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5276:Mylk3
|
UTSW |
8 |
86,082,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Mylk3
|
UTSW |
8 |
86,082,060 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5303:Mylk3
|
UTSW |
8 |
86,077,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Mylk3
|
UTSW |
8 |
86,069,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Mylk3
|
UTSW |
8 |
86,055,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6021:Mylk3
|
UTSW |
8 |
86,091,442 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6294:Mylk3
|
UTSW |
8 |
86,077,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Mylk3
|
UTSW |
8 |
86,077,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Mylk3
|
UTSW |
8 |
86,085,571 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6970:Mylk3
|
UTSW |
8 |
86,085,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7081:Mylk3
|
UTSW |
8 |
86,091,422 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7170:Mylk3
|
UTSW |
8 |
86,077,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Mylk3
|
UTSW |
8 |
86,085,726 (GRCm39) |
missense |
probably benign |
|
|
R7422:Mylk3
|
UTSW |
8 |
86,081,873 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7503:Mylk3
|
UTSW |
8 |
86,080,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7536:Mylk3
|
UTSW |
8 |
86,080,233 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8556:Mylk3
|
UTSW |
8 |
86,053,902 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8731:Mylk3
|
UTSW |
8 |
86,085,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8770:Mylk3
|
UTSW |
8 |
86,091,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Mylk3
|
UTSW |
8 |
86,085,874 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9064:Mylk3
|
UTSW |
8 |
86,081,940 (GRCm39) |
missense |
probably benign |
|
|
R9296:Mylk3
|
UTSW |
8 |
86,085,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9418:Mylk3
|
UTSW |
8 |
86,091,444 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Mylk3
|
UTSW |
8 |
86,091,808 (GRCm39) |
|
|
|
|
Z1177:Mylk3
|
UTSW |
8 |
86,091,808 (GRCm39) |
|
|
|
|
Z1177:Mylk3
|
UTSW |
8 |
86,085,823 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2015-04-16 |
Incidental Mutation