Incidental Mutation 'R7536:Mylk3'
| ID |
583599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| MMRRC Submission |
045608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R7536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86080233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 485
(I485V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034133
AA Change: I485V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: I485V
| 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: I422V
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: I422V
| 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: I352V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: I352V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| AI597479 |
C |
G |
1: 43,150,505 (GRCm39) |
A205G |
possibly damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,113,690 (GRCm39) |
V74E |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,011,703 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
A |
T |
9: 22,582,096 (GRCm39) |
Q596L |
probably damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,573,245 (GRCm39) |
V248A |
probably damaging |
Het |
| Cer1 |
C |
A |
4: 82,803,205 (GRCm39) |
R39L |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,708 (GRCm39) |
T624A |
possibly damaging |
Het |
| Coro1c |
C |
A |
5: 113,983,350 (GRCm39) |
G393W |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,800,331 (GRCm39) |
L97P |
probably damaging |
Het |
| Cyp2a5 |
T |
G |
7: 26,539,903 (GRCm39) |
L317R |
probably damaging |
Het |
| Cyp2j6 |
C |
A |
4: 96,423,774 (GRCm39) |
G198V |
probably damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,962,804 (GRCm39) |
E238G |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,358,768 (GRCm39) |
T3419K |
probably damaging |
Het |
| Dpep3 |
A |
T |
8: 106,704,032 (GRCm39) |
I262K |
probably damaging |
Het |
| Dscam |
T |
G |
16: 96,442,226 (GRCm39) |
|
probably null |
Het |
| Farsb |
A |
G |
1: 78,420,391 (GRCm39) |
V500A |
possibly damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,986,209 (GRCm39) |
C136* |
probably null |
Het |
| Fbxo43 |
G |
T |
15: 36,161,997 (GRCm39) |
D403E |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,874,432 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,521,852 (GRCm39) |
Y497C |
probably damaging |
Het |
| Gbp3 |
A |
T |
3: 142,272,156 (GRCm39) |
R219S |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,502,722 (GRCm39) |
H737Q |
possibly damaging |
Het |
| Gpr89 |
C |
A |
3: 96,798,209 (GRCm39) |
R149L |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,732,186 (GRCm39) |
Y1592N |
probably damaging |
Het |
| Gria4 |
A |
C |
9: 4,464,298 (GRCm39) |
Y555D |
probably damaging |
Het |
| Hspa1b |
T |
A |
17: 35,177,851 (GRCm39) |
T45S |
possibly damaging |
Het |
| Kif5b |
A |
T |
18: 6,216,235 (GRCm39) |
N571K |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,849,066 (GRCm39) |
M694K |
probably damaging |
Het |
| Med24 |
G |
A |
11: 98,603,447 (GRCm39) |
H439Y |
possibly damaging |
Het |
| Mgl2 |
G |
T |
11: 70,027,833 (GRCm39) |
R347L |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,581,240 (GRCm39) |
L850Q |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,530 (GRCm39) |
V44A |
possibly damaging |
Het |
| Or10ag54 |
C |
T |
2: 87,099,943 (GRCm39) |
Q273* |
probably null |
Het |
| Or7e174 |
C |
A |
9: 20,012,826 (GRCm39) |
T257K |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,664,560 (GRCm39) |
L434P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,755,768 (GRCm39) |
Y223C |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,752,640 (GRCm39) |
Q995* |
probably null |
Het |
| Pls1 |
C |
T |
9: 95,644,110 (GRCm39) |
C462Y |
probably damaging |
Het |
| Ppp6r3 |
T |
C |
19: 3,557,341 (GRCm39) |
E249G |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,184 (GRCm39) |
N483I |
unknown |
Het |
| R3hdm1 |
A |
G |
1: 128,109,948 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
T |
C |
17: 75,821,128 (GRCm39) |
F445S |
probably damaging |
Het |
| Rnf39 |
G |
T |
17: 37,254,009 (GRCm39) |
L10F |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,740,725 (GRCm39) |
D410G |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,700,901 (GRCm39) |
T35A |
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,668,744 (GRCm39) |
|
probably null |
Het |
| Slc13a1 |
A |
T |
6: 24,100,330 (GRCm39) |
D384E |
probably damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,689,698 (GRCm39) |
T55A |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,141 (GRCm39) |
Q261* |
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,889,556 (GRCm39) |
V755M |
probably damaging |
Het |
| St7 |
C |
G |
6: 17,886,019 (GRCm39) |
P327R |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,078,694 (GRCm39) |
I268T |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,007,294 (GRCm39) |
S171P |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,427,118 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,742,203 (GRCm39) |
Y16C |
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,158,215 (GRCm39) |
Y503* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,547,681 (GRCm39) |
D32163G |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,272,191 (GRCm39) |
S833T |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,561 (GRCm39) |
L595P |
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 |
|
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'- ACCCATGCCTAGTACTCCTG -3'
(R):5'- CATTTTGGGGCCATAAGGAGGG -3'
Sequencing Primer
(F):5'- GATGTCCTACTTTGAGGGCCTC -3'
(R):5'- TAAGGAGGGCAGTGGGCTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation