Incidental Mutation 'R7318:Mylk3'
ID |
565655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mylk3
|
Ensembl Gene |
ENSMUSG00000031698 |
Gene Name |
myosin light chain kinase 3 |
Synonyms |
D830007F02Rik |
MMRRC Submission |
045414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R7318 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
86050933-86112969 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 86085726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 269
(D269E)
|
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: D269E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034133 Gene: ENSMUSG00000031698 AA Change: D269E
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: D206E
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113960 Gene: ENSMUSG00000031698 AA Change: D206E
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: D136E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113389 Gene: ENSMUSG00000031698 AA Change: D136E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
C |
7: 40,643,111 (GRCm39) |
L260S |
probably benign |
Het |
9130230L23Rik |
A |
T |
5: 66,145,771 (GRCm39) |
S113R |
unknown |
Het |
Abcc5 |
G |
A |
16: 20,211,293 (GRCm39) |
P557S |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,958,466 (GRCm39) |
T245A |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,946,155 (GRCm39) |
F263L |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,385,632 (GRCm39) |
N327I |
probably benign |
Het |
Appl1 |
T |
C |
14: 26,685,617 (GRCm39) |
E67G |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,506,211 (GRCm39) |
C864S |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
Arhgef2 |
A |
T |
3: 88,539,610 (GRCm39) |
N102Y |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,513,089 (GRCm39) |
E431D |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,342,374 (GRCm39) |
I30T |
probably benign |
Het |
Cd40 |
A |
T |
2: 164,904,255 (GRCm39) |
D34V |
possibly damaging |
Het |
Chrnb2 |
T |
A |
3: 89,670,674 (GRCm39) |
|
probably null |
Het |
Chsy1 |
T |
G |
7: 65,759,977 (GRCm39) |
|
probably null |
Het |
Cpne6 |
A |
G |
14: 55,751,751 (GRCm39) |
T245A |
possibly damaging |
Het |
Cpsf1 |
T |
A |
15: 76,481,475 (GRCm39) |
K1159* |
probably null |
Het |
Crisp1 |
T |
A |
17: 40,618,668 (GRCm39) |
E64D |
possibly damaging |
Het |
D3Ertd751e |
A |
G |
3: 41,756,986 (GRCm39) |
|
probably null |
Het |
Dennd11 |
A |
G |
6: 40,386,098 (GRCm39) |
V333A |
possibly damaging |
Het |
Dnah7b |
T |
A |
1: 46,234,532 (GRCm39) |
L1488Q |
probably damaging |
Het |
Dnm2 |
G |
A |
9: 21,416,863 (GRCm39) |
G799R |
possibly damaging |
Het |
Elp2 |
G |
A |
18: 24,739,956 (GRCm39) |
V61I |
probably damaging |
Het |
Epb41l3 |
T |
C |
17: 69,573,135 (GRCm39) |
L388P |
|
Het |
Fry |
A |
T |
5: 150,360,458 (GRCm39) |
S2035C |
probably damaging |
Het |
Gas8 |
T |
C |
8: 124,257,707 (GRCm39) |
F385L |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,426,616 (GRCm39) |
V224A |
possibly damaging |
Het |
Gstp2 |
T |
A |
19: 4,091,065 (GRCm39) |
R85W |
probably benign |
Het |
Ighv1-20 |
T |
A |
12: 114,687,810 (GRCm39) |
I6F |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,798,374 (GRCm39) |
M854K |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,817,014 (GRCm39) |
E538G |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
Lmo3 |
T |
A |
6: 138,398,363 (GRCm39) |
|
probably benign |
Het |
Lyg1 |
G |
A |
1: 37,988,936 (GRCm39) |
P95S |
probably benign |
Het |
Lyst |
A |
G |
13: 13,932,028 (GRCm39) |
H3552R |
probably benign |
Het |
Mtif2 |
C |
T |
11: 29,490,115 (GRCm39) |
S385L |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,575,710 (GRCm39) |
I1737F |
unknown |
Het |
Mug1 |
T |
C |
6: 121,847,611 (GRCm39) |
|
probably null |
Het |
Mx1 |
G |
T |
16: 97,253,286 (GRCm39) |
Q350K |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,448,332 (GRCm39) |
K974* |
probably null |
Het |
Nectin4 |
G |
T |
1: 171,208,031 (GRCm39) |
R141L |
probably benign |
Het |
Nlgn2 |
T |
C |
11: 69,716,795 (GRCm39) |
H582R |
probably damaging |
Het |
Or51ab3 |
T |
A |
7: 103,201,298 (GRCm39) |
M102K |
probably damaging |
Het |
Or51e1 |
T |
A |
7: 102,359,226 (GRCm39) |
Y253* |
probably null |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Psmd11 |
C |
A |
11: 80,347,128 (GRCm39) |
L171I |
probably benign |
Het |
Rad54l |
A |
G |
4: 115,967,906 (GRCm39) |
V152A |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,318,909 (GRCm39) |
Y2473* |
probably null |
Het |
Sertad1 |
T |
C |
7: 27,188,910 (GRCm39) |
I77T |
possibly damaging |
Het |
Sesn3 |
A |
T |
9: 14,219,873 (GRCm39) |
E87D |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,950,477 (GRCm39) |
S260R |
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,328,972 (GRCm39) |
G111S |
probably damaging |
Het |
Slc6a12 |
T |
C |
6: 121,328,978 (GRCm39) |
Y113H |
probably benign |
Het |
Spag17 |
T |
G |
3: 99,847,299 (GRCm39) |
M76R |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Stard13 |
G |
A |
5: 150,986,038 (GRCm39) |
Q491* |
probably null |
Het |
Synpo2 |
T |
C |
3: 122,910,968 (GRCm39) |
S226G |
probably benign |
Het |
Tada2b |
G |
A |
5: 36,641,331 (GRCm39) |
T24I |
probably benign |
Het |
Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
Tnnt1 |
T |
A |
7: 4,513,547 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,340 (GRCm39) |
I196V |
probably benign |
Het |
Utp20 |
T |
A |
10: 88,649,811 (GRCm39) |
K466N |
possibly damaging |
Het |
Wdr46 |
T |
C |
17: 34,160,859 (GRCm39) |
|
probably null |
Het |
Zfp287 |
T |
A |
11: 62,605,104 (GRCm39) |
Q601L |
probably damaging |
Het |
Zfp410 |
T |
C |
12: 84,372,464 (GRCm39) |
S97P |
probably benign |
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 |
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'- GGACATACCTGTGCGAACAGTG -3'
Sequencing Primer
(F):5'- GGAAGTGCATCACCACTGTG -3'
(R):5'- AGGGGCTGCCTCTCATCATC -3'
|
Posted On |
2019-06-26 |