Incidental Mutation 'R8066:Myl10'
ID |
619990 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8066 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,780,689 (GRCm39) |
V177A |
probably benign |
Het |
Acsm2 |
C |
A |
7: 119,190,548 (GRCm39) |
T517K |
probably damaging |
Het |
Adam29 |
T |
G |
8: 56,325,703 (GRCm39) |
L250F |
probably benign |
Het |
Ankrd37 |
T |
C |
8: 46,450,726 (GRCm39) |
D135G |
probably benign |
Het |
Armh4 |
T |
C |
14: 50,005,980 (GRCm39) |
T572A |
possibly damaging |
Het |
Aspa |
T |
C |
11: 73,204,372 (GRCm39) |
K199E |
possibly damaging |
Het |
Aurka |
A |
T |
2: 172,212,338 (GRCm39) |
I13K |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,361,283 (GRCm39) |
D446G |
unknown |
Het |
Bcar3 |
A |
T |
3: 122,318,573 (GRCm39) |
I654F |
probably damaging |
Het |
Ccdc188 |
A |
T |
16: 18,037,058 (GRCm39) |
N210Y |
probably damaging |
Het |
Ccdc25 |
A |
T |
14: 66,083,751 (GRCm39) |
D28V |
possibly damaging |
Het |
Ccn5 |
G |
T |
2: 163,670,862 (GRCm39) |
C123F |
probably damaging |
Het |
Cdc37 |
C |
T |
9: 21,054,437 (GRCm39) |
E63K |
probably benign |
Het |
Chrm4 |
T |
A |
2: 91,758,042 (GRCm39) |
L150H |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,452,628 (GRCm39) |
|
probably null |
Het |
Ctr9 |
T |
A |
7: 110,633,104 (GRCm39) |
Y117* |
probably null |
Het |
Cyp4f37 |
C |
A |
17: 32,854,047 (GRCm39) |
R499S |
probably benign |
Het |
Egr4 |
T |
C |
6: 85,489,277 (GRCm39) |
Y261C |
probably damaging |
Het |
Fanca |
A |
T |
8: 124,030,679 (GRCm39) |
C468S |
unknown |
Het |
Gart |
T |
C |
16: 91,436,335 (GRCm39) |
N141D |
probably benign |
Het |
Get4 |
G |
A |
5: 139,249,293 (GRCm39) |
V126M |
probably damaging |
Het |
Gja3 |
T |
C |
14: 57,273,263 (GRCm39) |
S370G |
probably benign |
Het |
Gopc |
T |
C |
10: 52,230,812 (GRCm39) |
K162R |
probably benign |
Het |
Grpel1 |
A |
G |
5: 36,626,889 (GRCm39) |
D57G |
probably benign |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,361,744 (GRCm39) |
L1149P |
probably benign |
Het |
Lmbrd2 |
G |
A |
15: 9,172,172 (GRCm39) |
R322Q |
probably benign |
Het |
Lrrc59 |
T |
C |
11: 94,525,426 (GRCm39) |
L74P |
possibly damaging |
Het |
Mcam |
G |
T |
9: 44,052,257 (GRCm39) |
K589N |
probably damaging |
Het |
Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
Nrap |
A |
T |
19: 56,342,562 (GRCm39) |
L813Q |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,760,291 (GRCm39) |
K289R |
probably damaging |
Het |
Or10h1 |
T |
C |
17: 33,418,126 (GRCm39) |
F35L |
probably benign |
Het |
Or14a260 |
A |
T |
7: 85,985,014 (GRCm39) |
C197S |
probably benign |
Het |
Or52b1 |
C |
T |
7: 104,978,761 (GRCm39) |
V213I |
possibly damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,859,435 (GRCm39) |
I164L |
probably benign |
Het |
Pck2 |
C |
A |
14: 55,781,858 (GRCm39) |
P251H |
probably benign |
Het |
Phip |
A |
T |
9: 82,757,351 (GRCm39) |
I1607K |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,658,168 (GRCm39) |
T220A |
probably benign |
Het |
Plch1 |
G |
A |
3: 63,618,478 (GRCm39) |
Q686* |
probably null |
Het |
Pnpla2 |
A |
G |
7: 141,039,581 (GRCm39) |
*487W |
probably null |
Het |
Prdm14 |
C |
A |
1: 13,184,540 (GRCm39) |
G544C |
probably benign |
Het |
Psg22 |
A |
G |
7: 18,452,218 (GRCm39) |
E45G |
possibly damaging |
Het |
Psmb5 |
T |
C |
14: 54,851,698 (GRCm39) |
D249G |
probably benign |
Het |
Pstpip1 |
A |
G |
9: 56,033,913 (GRCm39) |
I296V |
probably benign |
Het |
S1pr3 |
T |
A |
13: 51,573,955 (GRCm39) |
*379R |
probably null |
Het |
Smc3 |
G |
A |
19: 53,603,576 (GRCm39) |
R57H |
probably damaging |
Het |
Spata31g1 |
C |
A |
4: 42,971,929 (GRCm39) |
Q421K |
possibly damaging |
Het |
Srcap |
T |
A |
7: 127,139,484 (GRCm39) |
H1268Q |
possibly damaging |
Het |
Srcap |
C |
T |
7: 127,120,804 (GRCm39) |
R155C |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,113,650 (GRCm39) |
V999A |
probably benign |
Het |
Tchp |
T |
A |
5: 114,847,472 (GRCm39) |
L97Q |
probably benign |
Het |
Tex46 |
G |
A |
4: 136,340,265 (GRCm39) |
V117M |
probably benign |
Het |
Tnnc2 |
T |
A |
2: 164,619,661 (GRCm39) |
I102F |
possibly damaging |
Het |
Trbv5 |
T |
A |
6: 41,039,326 (GRCm39) |
C12S |
probably damaging |
Het |
Trub2 |
T |
A |
2: 29,667,867 (GRCm39) |
T258S |
possibly damaging |
Het |
Uba3 |
T |
A |
6: 97,178,882 (GRCm39) |
N87I |
probably damaging |
Het |
Vmn1r160 |
A |
T |
7: 22,571,315 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn1r192 |
G |
T |
13: 22,371,565 (GRCm39) |
Y218* |
probably null |
Het |
Vmn1r8 |
A |
G |
6: 57,013,419 (GRCm39) |
M157V |
probably benign |
Het |
Vps53 |
T |
C |
11: 76,027,133 (GRCm39) |
E127G |
probably damaging |
Het |
Vsig10 |
G |
T |
5: 117,489,849 (GRCm39) |
E538D |
probably benign |
Het |
Zfp647 |
A |
T |
15: 76,796,095 (GRCm39) |
H188Q |
probably damaging |
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 |
R8067:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
R8202: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'- TGATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
Posted On |
2020-01-23 |