Incidental Mutation 'R5108:Mylk3'
| ID |
393676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| MMRRC Submission |
042696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R5108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86085721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 208
(I208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
[ENSMUST00000137290]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034133
AA Change: I271N
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: I271N
| 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: I208N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: I208N
| 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: I138N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: I138N
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (79/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
| Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
| Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
| Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
| C1ra |
A |
T |
6: 124,499,881 (GRCm39) |
Y689F |
probably damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
| Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,020 (GRCm39) |
N133S |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
| Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
| Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,515 (GRCm39) |
H223Q |
probably benign |
Het |
| Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
| Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
| Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
| Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
| Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
| Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
| Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,013,453 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
| Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
| Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
| Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
| Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
| Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
| Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
| Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
| Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
| Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
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 |
|
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'- TTACCTGGGAAGTGCATCACC -3'
(R):5'- GGACATACCTGTGCGAACAG -3'
Sequencing Primer
(F):5'- GGAAGTGCATCACCACTGTG -3'
(R):5'- TCATCATCAATACGTCACTGAAGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation