Incidental Mutation 'R8804:Mylk3'
| ID |
671926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| MMRRC Submission |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R8804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86085874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 220
(D220G)
|
| 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: D220G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: D220G
| 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 |
possibly damaging
Transcript: ENSMUST00000121972
AA Change: D157G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: D157G
| 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: D87G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: D87G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,820 (GRCm39) |
|
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,599,300 (GRCm39) |
F100S |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,899,212 (GRCm39) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,552,652 (GRCm39) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,625,041 (GRCm39) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,389,626 (GRCm39) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,947 (GRCm39) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,008,284 (GRCm39) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,361,296 (GRCm39) |
R22G |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,496,805 (GRCm39) |
I480N |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,624 (GRCm39) |
T401A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,809 (GRCm39) |
N1763S |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,849,320 (GRCm39) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,250,061 (GRCm39) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,442,518 (GRCm39) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,718,610 (GRCm39) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,281,412 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,411,640 (GRCm39) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,356,511 (GRCm39) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,042,756 (GRCm39) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,842,595 (GRCm39) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,339 (GRCm39) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 84,046,150 (GRCm39) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,324,469 (GRCm39) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,435,531 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,893,914 (GRCm39) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,991,694 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,964,507 (GRCm39) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,652 (GRCm39) |
H265Y |
probably damaging |
Het |
| Gykl1 |
A |
G |
18: 52,827,608 (GRCm39) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,139,575 (GRCm39) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,843,581 (GRCm39) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,876 (GRCm39) |
T153P |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,987,791 (GRCm39) |
C773R |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,942,198 (GRCm39) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,093,972 (GRCm39) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,251,830 (GRCm39) |
I410K |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,898 (GRCm39) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 86,993,414 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,635 (GRCm39) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,220,891 (GRCm39) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,853,900 (GRCm39) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,881,908 (GRCm39) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,103,431 (GRCm39) |
N223Y |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,205 (GRCm39) |
V95E |
probably benign |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,708,039 (GRCm39) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,416,584 (GRCm39) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,225 (GRCm39) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,325,273 (GRCm39) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,629,661 (GRCm39) |
G59V |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,150 (GRCm39) |
D161V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,411 (GRCm39) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,763,978 (GRCm39) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,574,243 (GRCm39) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 24,087,245 (GRCm39) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,907,639 (GRCm39) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,655,523 (GRCm39) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,874,506 (GRCm39) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,629 (GRCm39) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,511,900 (GRCm39) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,920 (GRCm39) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm39) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,294,693 (GRCm39) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,032,326 (GRCm39) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,707 (GRCm39) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,648,202 (GRCm39) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,685,882 (GRCm39) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,170,398 (GRCm39) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,142,606 (GRCm39) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,407,270 (GRCm39) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,408,015 (GRCm39) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,675,161 (GRCm39) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,774,144 (GRCm39) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,312,191 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,399 (GRCm39) |
D175G |
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 |
|
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 |
|
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'- AGTCAGGCTTGCTGGATGAG -3'
(R):5'- ATACGTGTGCTACATGGGATG -3'
Sequencing Primer
(F):5'- GGATGAGGTTTCTTGACCACCAC -3'
(R):5'- GCTACATGGGATGATTTGCATATATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation