Incidental Mutation 'IGL03000:Mylk3'
| ID |
407263 |
| 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 # |
IGL03000
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86085806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 243
(P243S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
[ENSMUST00000137290]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034133
AA Change: P243S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: P243S
| 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 damaging
Transcript: ENSMUST00000121972
AA Change: P180S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: P180S
| 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 |
possibly damaging
Transcript: ENSMUST00000122452
AA Change: P110S
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: P110S
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,360,959 (GRCm39) |
S445G |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,208,640 (GRCm39) |
V226I |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,611,239 (GRCm39) |
D367E |
probably benign |
Het |
| Bmp6 |
G |
T |
13: 38,682,887 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
G |
16: 52,024,905 (GRCm39) |
D933E |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,489 (GRCm39) |
S95P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,985,115 (GRCm39) |
I1658V |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,781,347 (GRCm39) |
T478S |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,435 (GRCm39) |
F247L |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,242,724 (GRCm39) |
E29G |
probably damaging |
Het |
| Dctn3 |
T |
A |
4: 41,719,912 (GRCm39) |
I65F |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,969 (GRCm39) |
E743G |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,775,316 (GRCm39) |
T281N |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,709,924 (GRCm39) |
T307K |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,223,745 (GRCm39) |
N93I |
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,449,292 (GRCm39) |
D1930G |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,782,564 (GRCm39) |
I334V |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,752,261 (GRCm39) |
N756K |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,693,635 (GRCm39) |
F404L |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,489,170 (GRCm39) |
R4590W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,699,355 (GRCm39) |
V134E |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,785,881 (GRCm39) |
V736A |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,602 (GRCm39) |
I226N |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,026 (GRCm39) |
K16* |
probably null |
Het |
| Mms22l |
G |
T |
4: 24,581,161 (GRCm39) |
V864L |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,487,963 (GRCm39) |
M320L |
probably benign |
Het |
| Nbea |
A |
C |
3: 55,912,048 (GRCm39) |
D1246E |
possibly damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,299 (GRCm39) |
T193A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,549,247 (GRCm39) |
|
probably benign |
Het |
| Or6k8-ps1 |
A |
G |
1: 173,979,126 (GRCm39) |
T15A |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,378,518 (GRCm39) |
F2008I |
probably damaging |
Het |
| Rhag |
A |
G |
17: 41,139,413 (GRCm39) |
K116R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,798,721 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
C |
A |
1: 125,502,479 (GRCm39) |
T277N |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,222,675 (GRCm39) |
|
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,312,032 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,365 (GRCm39) |
S830P |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,122,476 (GRCm39) |
T112A |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,949,888 (GRCm39) |
V947A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,642,953 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,025,096 (GRCm39) |
V560D |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,282,053 (GRCm39) |
E1856V |
possibly damaging |
Het |
| Zfp142 |
T |
C |
1: 74,612,777 (GRCm39) |
M457V |
probably benign |
Het |
| Zfp711 |
C |
T |
X: 111,534,555 (GRCm39) |
Q137* |
probably null |
Het |
| Zkscan17 |
T |
C |
11: 59,377,986 (GRCm39) |
Y399C |
probably damaging |
Het |
| Zswim6 |
T |
G |
13: 107,863,649 (GRCm39) |
|
noncoding transcript |
Het |
| Zswim6 |
T |
A |
13: 107,863,650 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02252:Mylk3
|
APN |
8 |
86,082,105 (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 |
|
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 |
2016-08-02 |
Incidental Mutation