Incidental Mutation 'R5303:Mylk3'
| ID |
404354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mylk3
|
| Ensembl Gene |
ENSMUSG00000031698 |
| Gene Name |
myosin light chain kinase 3 |
| Synonyms |
D830007F02Rik |
| MMRRC Submission |
042886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R5303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86077105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 444
(I444F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034133]
[ENSMUST00000121972]
[ENSMUST00000122452]
|
| AlphaFold |
Q3UIZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034133
AA Change: I577F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: I577F
| 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: I514F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: I514F
| 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 damaging
Transcript: ENSMUST00000122452
AA Change: I444F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: I444F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
S_TKc
|
358 |
613 |
6.93e-91 |
SMART |
|
| Meta Mutation Damage Score |
0.6382 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (63/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
A |
G |
2: 19,521,110 (GRCm39) |
Y256H |
possibly damaging |
Het |
| Abcc12 |
C |
A |
8: 87,236,415 (GRCm39) |
R1133L |
probably benign |
Het |
| Acss3 |
T |
A |
10: 106,920,712 (GRCm39) |
T133S |
possibly damaging |
Het |
| Adra1d |
G |
A |
2: 131,388,169 (GRCm39) |
P462L |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,739,453 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,290,349 (GRCm39) |
R1748Q |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,677,488 (GRCm39) |
|
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,826,794 (GRCm39) |
S474R |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,427 (GRCm39) |
F189L |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,744,707 (GRCm39) |
I344V |
probably benign |
Het |
| Chrna1 |
T |
C |
2: 73,396,618 (GRCm39) |
M426V |
probably benign |
Het |
| Cinp |
G |
A |
12: 110,843,295 (GRCm39) |
T139M |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,641,329 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,537 (GRCm39) |
R173H |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,739,703 (GRCm39) |
P38L |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,853,873 (GRCm39) |
S480P |
probably benign |
Het |
| Epb41l3 |
G |
C |
17: 69,564,444 (GRCm39) |
E390Q |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,753,259 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,463 (GRCm39) |
F134Y |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,324,636 (GRCm39) |
C95S |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria1 |
A |
G |
11: 57,133,851 (GRCm39) |
T577A |
probably benign |
Het |
| Hal |
A |
G |
10: 93,352,227 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
C |
A |
15: 97,695,899 (GRCm39) |
E670D |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,115,558 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,663 (GRCm39) |
Y2258H |
probably benign |
Het |
| Mical3 |
G |
T |
6: 120,936,941 (GRCm39) |
T1195K |
probably benign |
Het |
| Myh1 |
T |
C |
11: 67,092,843 (GRCm39) |
S46P |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,781,478 (GRCm39) |
C644S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,368,631 (GRCm39) |
V553M |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,884 (GRCm39) |
I213T |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,345 (GRCm39) |
I242F |
possibly damaging |
Het |
| Or51a43 |
T |
C |
7: 103,718,239 (GRCm39) |
|
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Postn |
A |
G |
3: 54,285,018 (GRCm39) |
T669A |
probably damaging |
Het |
| Ppp5c |
G |
T |
7: 16,739,209 (GRCm39) |
Q472K |
probably benign |
Het |
| Qsox1 |
T |
C |
1: 155,655,039 (GRCm39) |
H708R |
probably benign |
Het |
| Rhbdl2 |
A |
G |
4: 123,704,014 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,767,907 (GRCm39) |
E2884K |
probably damaging |
Het |
| Saysd1 |
T |
C |
14: 20,133,026 (GRCm39) |
T44A |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,766,712 (GRCm39) |
M290L |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc38a8 |
C |
A |
8: 120,212,780 (GRCm39) |
V294L |
possibly damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,158 (GRCm39) |
T217I |
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,694,827 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,370,464 (GRCm39) |
T232A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,043,228 (GRCm39) |
D753E |
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,343 (GRCm39) |
Q44K |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,622,606 (GRCm39) |
S2T |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,468,260 (GRCm39) |
D172G |
probably damaging |
Het |
| Vmn1r235 |
C |
A |
17: 21,482,268 (GRCm39) |
Q198K |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,100,849 (GRCm39) |
H256R |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,982,335 (GRCm39) |
H1059Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,593,842 (GRCm39) |
I77M |
probably benign |
Het |
| Zfp850 |
C |
T |
7: 27,707,838 (GRCm39) |
A2T |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,830 (GRCm39) |
N188K |
probably damaging |
Het |
| Zyg11a |
C |
T |
4: 108,041,629 (GRCm39) |
|
probably null |
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 |
|
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'- ATGACCCATGGGATTGGAATG -3'
(R):5'- ATATGACAGAGCAAAGGCCC -3'
Sequencing Primer
(F):5'- AATGGTGGCCTTGACACAC -3'
(R):5'- AAACCCTACGTAGCAGTGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation