Incidental Mutation 'R0667:Mylk3'
ID |
62065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mylk3
|
Ensembl Gene |
ENSMUSG00000031698 |
Gene Name |
myosin light chain kinase 3 |
Synonyms |
D830007F02Rik |
MMRRC Submission |
038852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R0667 (G1)
|
Quality Score |
93 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 86081794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000034133]
[ENSMUST00000034133]
[ENSMUST00000034133]
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000121972]
[ENSMUST00000121972]
[ENSMUST00000121972]
[ENSMUST00000121972]
[ENSMUST00000122452]
[ENSMUST00000122452]
[ENSMUST00000122452]
[ENSMUST00000122452]
[ENSMUST00000122452]
[ENSMUST00000137290]
|
AlphaFold |
Q3UIZ8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034133
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698
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: ENSMUST00000034133
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698
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: ENSMUST00000034133
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698
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: ENSMUST00000034133
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698
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: ENSMUST00000034133
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698
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
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698
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: ENSMUST00000121972
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698
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: ENSMUST00000121972
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698
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: ENSMUST00000121972
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698
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: ENSMUST00000121972
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698
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
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698
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 null
Transcript: ENSMUST00000122452
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698
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 null
Transcript: ENSMUST00000122452
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698
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 null
Transcript: ENSMUST00000122452
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698
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 null
Transcript: ENSMUST00000122452
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698
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
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Cand1 |
A |
G |
10: 119,052,425 (GRCm39) |
S234P |
probably benign |
Het |
Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
Mep1a |
T |
G |
17: 43,789,081 (GRCm39) |
D565A |
probably benign |
Het |
Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,252,369 (GRCm39) |
T409I |
probably damaging |
Het |
Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
Setd1a |
A |
G |
7: 127,385,765 (GRCm39) |
D281G |
probably damaging |
Het |
Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
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 |
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'- AGCAGGGAAGTTGCTTTGAGAAACC -3'
(R):5'- GCCTTGGGACTGTGTTAGAAGACC -3'
Sequencing Primer
(F):5'- GTTGCTTTGAGAAACCTAGCCAG -3'
(R):5'- GACTGTGTTAGAAGACCAGATCCC -3'
|
Posted On |
2013-07-30 |