Incidental Mutation 'R6327:Mylk2'
ID |
510460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mylk2
|
Ensembl Gene |
ENSMUSG00000027470 |
Gene Name |
myosin, light polypeptide kinase 2, skeletal muscle |
Synonyms |
9830004H17Rik |
MMRRC Submission |
044481-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.404)
|
Stock # |
R6327 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
152753272-152764988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 152755613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 259
(Q259R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028970]
|
AlphaFold |
Q8VCR8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028970
AA Change: Q259R
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028970 Gene: ENSMUSG00000027470 AA Change: Q259R
Domain | Start | End | E-Value | Type |
low complexity region
|
90 |
122 |
N/A |
INTRINSIC |
low complexity region
|
142 |
157 |
N/A |
INTRINSIC |
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
low complexity region
|
278 |
285 |
N/A |
INTRINSIC |
S_TKc
|
302 |
557 |
6.08e-87 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly damaging |
Het |
|
Other mutations in Mylk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01870:Mylk2
|
APN |
2 |
152,757,134 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02097:Mylk2
|
APN |
2 |
152,757,056 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02158:Mylk2
|
APN |
2 |
152,761,077 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02189:Mylk2
|
APN |
2 |
152,757,074 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02243:Mylk2
|
APN |
2 |
152,762,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Mylk2
|
APN |
2 |
152,764,073 (GRCm39) |
makesense |
probably null |
|
IGL02946:Mylk2
|
APN |
2 |
152,761,130 (GRCm39) |
nonsense |
probably null |
|
IGL03105:Mylk2
|
APN |
2 |
152,759,279 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1184:Mylk2
|
UTSW |
2 |
152,755,661 (GRCm39) |
critical splice donor site |
probably null |
|
R1443:Mylk2
|
UTSW |
2 |
152,761,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Mylk2
|
UTSW |
2 |
152,759,527 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2496:Mylk2
|
UTSW |
2 |
152,755,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Mylk2
|
UTSW |
2 |
152,761,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Mylk2
|
UTSW |
2 |
152,761,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Mylk2
|
UTSW |
2 |
152,761,274 (GRCm39) |
missense |
probably benign |
0.31 |
R4510:Mylk2
|
UTSW |
2 |
152,759,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Mylk2
|
UTSW |
2 |
152,759,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Mylk2
|
UTSW |
2 |
152,759,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4633:Mylk2
|
UTSW |
2 |
152,759,335 (GRCm39) |
missense |
probably benign |
0.00 |
R4890:Mylk2
|
UTSW |
2 |
152,762,274 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5267:Mylk2
|
UTSW |
2 |
152,755,469 (GRCm39) |
missense |
probably benign |
|
R5430:Mylk2
|
UTSW |
2 |
152,759,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Mylk2
|
UTSW |
2 |
152,754,430 (GRCm39) |
missense |
probably damaging |
0.96 |
R6167:Mylk2
|
UTSW |
2 |
152,757,673 (GRCm39) |
splice site |
probably null |
|
R6391:Mylk2
|
UTSW |
2 |
152,759,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6913:Mylk2
|
UTSW |
2 |
152,755,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7066:Mylk2
|
UTSW |
2 |
152,753,588 (GRCm39) |
splice site |
probably null |
|
R7092:Mylk2
|
UTSW |
2 |
152,757,110 (GRCm39) |
missense |
probably benign |
0.21 |
R7403:Mylk2
|
UTSW |
2 |
152,759,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7442:Mylk2
|
UTSW |
2 |
152,753,346 (GRCm39) |
start gained |
probably benign |
|
R7443:Mylk2
|
UTSW |
2 |
152,753,346 (GRCm39) |
start gained |
probably benign |
|
R7453:Mylk2
|
UTSW |
2 |
152,754,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Mylk2
|
UTSW |
2 |
152,762,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7529:Mylk2
|
UTSW |
2 |
152,757,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Mylk2
|
UTSW |
2 |
152,762,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Mylk2
|
UTSW |
2 |
152,755,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Mylk2
|
UTSW |
2 |
152,761,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Mylk2
|
UTSW |
2 |
152,759,552 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Mylk2
|
UTSW |
2 |
152,762,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAACAGACCTCGTCTTTACAG -3'
(R):5'- GTCCTGTGACATTTGCACCAG -3'
Sequencing Primer
(F):5'- CAGACCTCGTCTTTACAGGGGTG -3'
(R):5'- ACATTTGCACCAGGGAGCCTAG -3'
|
Posted On |
2018-04-02 |