Incidental Mutation 'R8206:Myl10'
| ID |
635905 |
| 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 |
067629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8206 (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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,860,958 (GRCm39) |
Y342H |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
| Arhgap26 |
C |
A |
18: 39,439,803 (GRCm39) |
S247* |
probably null |
Het |
| Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
| Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
| Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
| Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
| Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
| Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
| Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
| Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
| Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
| Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
| Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
| Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
| Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,184,438 (GRCm39) |
D361G |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
| Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
| Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
| Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
| Prss12 |
G |
A |
3: 123,258,611 (GRCm39) |
|
probably null |
Het |
| Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
| Spata31d1d |
A |
C |
13: 59,879,344 (GRCm39) |
V64G |
probably benign |
Het |
| Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
| Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,612,717 (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 |
|
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 |
|
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'- CATGCTGTGTAATGATGCAGCTG -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation