Incidental Mutation 'R4775:Mylk3'
ID |
367850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mylk3
|
Ensembl Gene |
ENSMUSG00000031698 |
Gene Name |
myosin light chain kinase 3 |
Synonyms |
D830007F02Rik |
MMRRC Submission |
041991-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R4775 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 86085689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 149
(Q149*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
[ENSMUST00000137290]
|
AlphaFold |
Q3UIZ8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034133
AA Change: Q282*
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698 AA Change: Q282*
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 null
Transcript: ENSMUST00000121972
AA Change: Q219*
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698 AA Change: Q219*
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 null
Transcript: ENSMUST00000122452
AA Change: Q149*
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698 AA Change: Q149*
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
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 |
Acaca |
A |
G |
11: 84,134,165 (GRCm39) |
Y426C |
probably damaging |
Het |
Adam7 |
A |
G |
14: 68,745,361 (GRCm39) |
I621T |
probably benign |
Het |
Adamts1 |
A |
T |
16: 85,597,278 (GRCm39) |
Y260* |
probably null |
Het |
Adgrf1 |
C |
T |
17: 43,622,054 (GRCm39) |
L764F |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,808,984 (GRCm39) |
|
probably null |
Het |
C5ar2 |
A |
C |
7: 15,971,540 (GRCm39) |
L129R |
probably damaging |
Het |
Ccdc174 |
G |
A |
6: 91,867,875 (GRCm39) |
|
probably null |
Het |
Cidec |
T |
C |
6: 113,411,695 (GRCm39) |
M1V |
probably null |
Het |
Clec16a |
G |
T |
16: 10,456,778 (GRCm39) |
R663L |
probably damaging |
Het |
Col25a1 |
T |
C |
3: 129,976,468 (GRCm39) |
C118R |
possibly damaging |
Het |
Cox6b2 |
A |
G |
7: 4,755,074 (GRCm39) |
C67R |
probably damaging |
Het |
Cspg4b |
A |
T |
13: 113,454,229 (GRCm39) |
I92F |
possibly damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,897,156 (GRCm39) |
S792T |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,238,190 (GRCm39) |
N101Y |
probably benign |
Het |
Dsg4 |
A |
G |
18: 20,604,184 (GRCm39) |
T884A |
possibly damaging |
Het |
Dvl1 |
T |
C |
4: 155,942,584 (GRCm39) |
W617R |
probably benign |
Het |
Eml5 |
A |
G |
12: 98,768,566 (GRCm39) |
V1503A |
probably benign |
Het |
Engase |
A |
T |
11: 118,373,497 (GRCm39) |
D280V |
probably benign |
Het |
F11r |
T |
C |
1: 171,289,209 (GRCm39) |
S224P |
probably damaging |
Het |
Fanca |
A |
G |
8: 124,023,045 (GRCm39) |
V564A |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Gle1 |
T |
C |
2: 29,826,073 (GRCm39) |
W51R |
possibly damaging |
Het |
Gm94 |
A |
G |
18: 43,925,836 (GRCm39) |
|
probably null |
Het |
Gm9830 |
A |
T |
9: 44,375,721 (GRCm39) |
|
noncoding transcript |
Het |
Gpaa1 |
T |
A |
15: 76,218,891 (GRCm39) |
|
probably null |
Het |
Grin1 |
C |
T |
2: 25,182,475 (GRCm39) |
A929T |
possibly damaging |
Het |
Grm7 |
T |
A |
6: 110,891,332 (GRCm39) |
D188E |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,242,970 (GRCm39) |
F395L |
probably benign |
Het |
Lipo3 |
C |
A |
19: 33,757,795 (GRCm39) |
G225C |
probably damaging |
Het |
Lonrf2 |
T |
A |
1: 38,857,140 (GRCm39) |
|
probably null |
Het |
Marveld2 |
A |
G |
13: 100,753,303 (GRCm39) |
|
probably benign |
Het |
Mpl |
A |
G |
4: 118,305,777 (GRCm39) |
L416P |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,359,930 (GRCm39) |
L312P |
possibly damaging |
Het |
Mpzl3 |
T |
A |
9: 44,977,730 (GRCm39) |
S113T |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,464,470 (GRCm39) |
I968N |
probably damaging |
Het |
Ndc80 |
A |
G |
17: 71,821,265 (GRCm39) |
Y228H |
probably damaging |
Het |
Nelfcd |
T |
G |
2: 174,268,369 (GRCm39) |
C520G |
probably damaging |
Het |
Nfrkb |
C |
A |
9: 31,330,345 (GRCm39) |
T1199K |
possibly damaging |
Het |
Nipa2 |
A |
G |
7: 55,585,611 (GRCm39) |
I109T |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,042,525 (GRCm39) |
T804A |
probably benign |
Het |
Nsf |
A |
T |
11: 103,763,419 (GRCm39) |
I395K |
possibly damaging |
Het |
Nt5c1b |
G |
A |
12: 10,425,449 (GRCm39) |
V331I |
probably damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,377 (GRCm39) |
Y259H |
probably damaging |
Het |
Pask |
T |
C |
1: 93,265,246 (GRCm39) |
D3G |
probably damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,933,037 (GRCm39) |
V110A |
possibly damaging |
Het |
Ppp4r3a |
C |
T |
12: 101,019,825 (GRCm39) |
V377M |
probably damaging |
Het |
Prr12 |
A |
G |
7: 44,700,749 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
A |
13: 67,135,922 (GRCm39) |
|
probably null |
Het |
Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,092,551 (GRCm39) |
Y350F |
probably benign |
Het |
Skint4 |
A |
T |
4: 111,993,261 (GRCm39) |
H328L |
probably damaging |
Het |
Smyd4 |
G |
A |
11: 75,282,018 (GRCm39) |
C497Y |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,510,497 (GRCm39) |
W864R |
possibly damaging |
Het |
Stkld1 |
T |
A |
2: 26,841,757 (GRCm39) |
V543E |
probably damaging |
Het |
Taok2 |
A |
G |
7: 126,469,940 (GRCm39) |
S963P |
probably damaging |
Het |
Tars2 |
A |
G |
3: 95,653,959 (GRCm39) |
L354P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpcn2 |
A |
G |
7: 144,821,079 (GRCm39) |
L325P |
probably damaging |
Het |
Trappc3l |
C |
G |
10: 33,974,807 (GRCm39) |
H96Q |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,056,796 (GRCm39) |
Y1120* |
probably null |
Het |
Trio |
G |
A |
15: 27,881,428 (GRCm39) |
Q548* |
probably null |
Het |
Wipf2 |
T |
A |
11: 98,781,558 (GRCm39) |
D32E |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTGTTAATTAGACCCACGGC -3'
(R):5'- CAATACGTCACTGAAGGGAGC -3'
Sequencing Primer
(F):5'- GTTAATTAGACCCACGGCCCAAC -3'
(R):5'- TCACTGAAGGGAGCTGACCTAAC -3'
|
Posted On |
2015-12-29 |