Incidental Mutation 'R8202:Myl10'
ID |
635704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myl10
|
Ensembl Gene |
ENSMUSG00000005474 |
Gene Name |
myosin, light chain 10, regulatory |
Synonyms |
PLRLC-B, PLRLC-A, PLRLC-C, PLRLC, 1700027I08Rik, Mylc2pl |
MMRRC Submission |
067625-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8202 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
136722000-136729948 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 136726825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 70
(V70L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005611]
[ENSMUST00000196068]
[ENSMUST00000196436]
[ENSMUST00000197186]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005611
AA Change: V86L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000005611 Gene: ENSMUSG00000005474 AA Change: V86L
Domain | Start | End | E-Value | Type |
EFh
|
9 |
37 |
1.5e-5 |
SMART |
EFh
|
79 |
107 |
3.16e1 |
SMART |
Blast:EFh
|
115 |
143 |
6e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196068
AA Change: K115N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142570 Gene: ENSMUSG00000005474 AA Change: K115N
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_1
|
9 |
37 |
9.4e-7 |
PFAM |
Pfam:EF-hand_6
|
9 |
40 |
9.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196436
AA Change: V70L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000142495 Gene: ENSMUSG00000005474 AA Change: V70L
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_6
|
1 |
24 |
5.4e-3 |
PFAM |
Pfam:EF-hand_8
|
5 |
39 |
1.3e-3 |
PFAM |
Blast:EFh
|
63 |
91 |
1e-11 |
BLAST |
Blast:EFh
|
99 |
127 |
4e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197186
AA Change: V70L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143165 Gene: ENSMUSG00000005474 AA Change: V70L
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_6
|
1 |
24 |
5.4e-3 |
PFAM |
Pfam:EF-hand_8
|
5 |
39 |
1.3e-3 |
PFAM |
Blast:EFh
|
63 |
91 |
1e-11 |
BLAST |
Blast:EFh
|
99 |
127 |
4e-14 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197849
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199074
|
Meta Mutation Damage Score |
0.0667 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
B4galt4 |
A |
G |
16: 38,588,274 (GRCm39) |
Q306R |
probably benign |
Het |
Bckdha |
G |
A |
7: 25,329,738 (GRCm39) |
H431Y |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
Heatr6 |
C |
A |
11: 83,650,234 (GRCm39) |
T230K |
possibly damaging |
Het |
Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,761,786 (GRCm39) |
Y69C |
probably benign |
Het |
Smc3 |
T |
C |
19: 53,617,123 (GRCm39) |
I512T |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Myl10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03206:Myl10
|
APN |
5 |
136,726,796 (GRCm39) |
nonsense |
probably null |
|
G1Funyon:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4243001:Myl10
|
UTSW |
5 |
136,723,147 (GRCm39) |
missense |
probably benign |
0.05 |
R4066:Myl10
|
UTSW |
5 |
136,724,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R5712:Myl10
|
UTSW |
5 |
136,723,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R6321:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6322:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6566:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6756:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6757:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6894:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7033:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7152:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7242:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7411:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7484:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7535:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7537:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7630:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7631:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7635:Myl10
|
UTSW |
5 |
136,729,718 (GRCm39) |
missense |
probably benign |
0.00 |
R7764:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7829:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R7969:Myl10
|
UTSW |
5 |
136,729,707 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8065:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8066:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8067:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8203:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8204:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8206:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8217:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8248:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8300:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8301:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8343:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8731:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8732:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8831:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R9324:Myl10
|
UTSW |
5 |
136,729,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATGATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
Posted On |
2020-07-13 |