Incidental Mutation 'R0324:Mylk3'
| ID |
26359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| MMRRC Submission |
038534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R0324 (G1)
|
| Quality Score |
213 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86079535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 444
(R444S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034133
AA Change: R507S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: R507S
| 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: R444S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: R444S
| 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: R374S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: R374S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
S_TKc
|
358 |
613 |
6.93e-91 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 93.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,219,989 (GRCm39) |
L357S |
probably benign |
Het |
| 1700129C05Rik |
C |
T |
14: 59,380,256 (GRCm39) |
R14H |
probably damaging |
Het |
| Aatf |
A |
G |
11: 84,402,965 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,247,669 (GRCm39) |
M2472K |
possibly damaging |
Het |
| Abcd3 |
C |
A |
3: 121,562,816 (GRCm39) |
Q540H |
probably null |
Het |
| Adam17 |
C |
T |
12: 21,399,939 (GRCm39) |
V156I |
probably benign |
Het |
| Adam26a |
A |
G |
8: 44,021,490 (GRCm39) |
S667P |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,391,818 (GRCm39) |
K1333E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,060,521 (GRCm39) |
R2968Q |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,106,278 (GRCm39) |
P1522S |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,573 (GRCm39) |
S269C |
probably damaging |
Het |
| Cd209d |
A |
T |
8: 3,928,258 (GRCm39) |
S42R |
probably benign |
Het |
| Cntln |
T |
A |
4: 85,010,932 (GRCm39) |
V1049E |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,043,659 (GRCm39) |
F87L |
probably damaging |
Het |
| Crb3 |
T |
C |
17: 57,372,133 (GRCm39) |
L60P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,819,815 (GRCm39) |
V271A |
probably benign |
Het |
| Cyp2c66 |
G |
T |
19: 39,165,135 (GRCm39) |
R372L |
probably benign |
Het |
| Deup1 |
G |
A |
9: 15,493,829 (GRCm39) |
R438W |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,150,541 (GRCm39) |
E741K |
possibly damaging |
Het |
| Epha4 |
T |
C |
1: 77,360,188 (GRCm39) |
E703G |
probably damaging |
Het |
| Evc2 |
G |
A |
5: 37,550,443 (GRCm39) |
R819H |
probably damaging |
Het |
| Fam217a |
A |
C |
13: 35,094,944 (GRCm39) |
C272G |
possibly damaging |
Het |
| Fndc7 |
T |
C |
3: 108,784,015 (GRCm39) |
|
probably null |
Het |
| Foxs1 |
C |
T |
2: 152,774,607 (GRCm39) |
G149S |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,744,628 (GRCm39) |
V109A |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,725,556 (GRCm39) |
M7I |
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,620,165 (GRCm39) |
C209* |
probably null |
Het |
| Klra10 |
A |
G |
6: 130,249,613 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
A |
T |
5: 123,916,175 (GRCm39) |
K701N |
probably damaging |
Het |
| Lpgat1 |
T |
A |
1: 191,481,754 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,017,261 (GRCm39) |
Q468L |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,515,476 (GRCm39) |
T70A |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,294,048 (GRCm39) |
Y934* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,432 (GRCm39) |
T95A |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,965,369 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,332,032 (GRCm39) |
V2242A |
probably damaging |
Het |
| Nhp2 |
A |
G |
11: 51,513,334 (GRCm39) |
T85A |
possibly damaging |
Het |
| Nlk |
A |
G |
11: 78,463,257 (GRCm39) |
S413P |
possibly damaging |
Het |
| Nmbr |
A |
G |
10: 14,636,192 (GRCm39) |
I54V |
possibly damaging |
Het |
| Nmur2 |
A |
T |
11: 55,931,346 (GRCm39) |
C122S |
probably damaging |
Het |
| Nudt13 |
G |
T |
14: 20,361,583 (GRCm39) |
V220L |
probably damaging |
Het |
| Or5m13 |
G |
A |
2: 85,748,295 (GRCm39) |
V9M |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,719,447 (GRCm39) |
G1195R |
unknown |
Het |
| Pcsk7 |
A |
G |
9: 45,824,309 (GRCm39) |
H276R |
possibly damaging |
Het |
| Pdss2 |
T |
C |
10: 43,269,924 (GRCm39) |
S256P |
probably damaging |
Het |
| Pgf |
G |
T |
12: 85,218,198 (GRCm39) |
H116N |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,302 (GRCm39) |
D242G |
probably benign |
Het |
| Plk2 |
G |
A |
13: 110,534,242 (GRCm39) |
R274K |
probably benign |
Het |
| Ppp6r3 |
G |
T |
19: 3,514,693 (GRCm39) |
P141T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,292,295 (GRCm39) |
T95A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,653 (GRCm39) |
D149G |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,852,057 (GRCm39) |
|
probably null |
Het |
| Rhpn1 |
T |
C |
15: 75,583,437 (GRCm39) |
M334T |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,213,766 (GRCm39) |
T586A |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,764,739 (GRCm39) |
V630M |
probably damaging |
Het |
| Rptor |
C |
T |
11: 119,783,467 (GRCm39) |
R1154W |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,778 (GRCm39) |
I192M |
possibly damaging |
Het |
| Sit1 |
G |
A |
4: 43,482,815 (GRCm39) |
Q115* |
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,350 (GRCm39) |
N141S |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,084,344 (GRCm39) |
T78K |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,287,291 (GRCm39) |
|
probably null |
Het |
| Stil |
T |
A |
4: 114,896,346 (GRCm39) |
C944S |
probably benign |
Het |
| Tex56 |
A |
G |
13: 35,108,596 (GRCm39) |
N26S |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,419,893 (GRCm39) |
N675S |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,516 (GRCm39) |
I270T |
possibly damaging |
Het |
| Ugt2a3 |
C |
T |
5: 87,474,932 (GRCm39) |
|
probably null |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r8 |
A |
C |
5: 108,945,807 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
C |
9: 67,871,591 (GRCm39) |
F3253L |
possibly damaging |
Het |
| Zbtb16 |
G |
T |
9: 48,576,575 (GRCm39) |
Q502K |
possibly damaging |
Het |
| Zfp143 |
A |
G |
7: 109,676,354 (GRCm39) |
K218E |
possibly damaging |
Het |
| Zfp946 |
A |
G |
17: 22,673,417 (GRCm39) |
N57S |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,667,314 (GRCm39) |
Y61H |
probably benign |
Het |
| Zkscan1 |
G |
A |
5: 138,095,785 (GRCm39) |
R246Q |
probably damaging |
Het |
| Zpld1 |
A |
G |
16: 55,071,978 (GRCm39) |
F94L |
probably damaging |
Het |
| Zswim5 |
G |
T |
4: 116,844,103 (GRCm39) |
W1047L |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGGCCGCTCACACAAATGAGG -3'
(R):5'- GGATTATCCAGGGGCGAATGATCAC -3'
Sequencing Primer
(F):5'- AGACATCAAGTTTCTGCTTGGC -3'
(R):5'- CGAATGATCACTAAGGTAACAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation