Incidental Mutation 'R7969:Myl10'
| ID |
650498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl10
|
| Ensembl Gene |
ENSMUSG00000005474 |
| Gene Name |
myosin, light chain 10, regulatory |
| Synonyms |
PLRLC-C, 1700027I08Rik, PLRLC, PLRLC-A, Mylc2pl, PLRLC-B |
| MMRRC Submission |
046012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7969 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136693146-136701094 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 136700853 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005611]
[ENSMUST00000005611]
[ENSMUST00000005611]
[ENSMUST00000196068]
[ENSMUST00000196068]
[ENSMUST00000196068]
[ENSMUST00000196436]
[ENSMUST00000196436]
[ENSMUST00000196436]
[ENSMUST00000197186]
[ENSMUST00000197186]
[ENSMUST00000197186]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005611
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000005611
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000005611
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196068
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196068
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196068
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196436
|
| SMART Domains |
Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196436
|
| SMART Domains |
Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000196436
|
| SMART Domains |
Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000197186
|
| SMART Domains |
Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000197186
|
| SMART Domains |
Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
| 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 null
Transcript: ENSMUST00000197186
|
| SMART Domains |
Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,440,225 |
V4414E |
possibly damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,870,664 |
I193N |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,723,769 |
T345I |
probably benign |
Het |
| Atf6b |
A |
T |
17: 34,648,575 |
|
probably null |
Het |
| Cacna1s |
T |
G |
1: 136,076,732 |
F337C |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,298,184 |
I488V |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,775,166 |
D375E |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,406,046 |
F279S |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,625,207 |
V95A |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,015,209 |
|
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,417,258 |
F235S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,446,881 |
D427G |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,692,970 |
Y529H |
probably benign |
Het |
| Epx |
C |
T |
11: 87,872,721 |
M224I |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,929,699 |
R101G |
possibly damaging |
Het |
| Fubp1 |
T |
A |
3: 152,222,246 |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,562,306 |
R153* |
probably null |
Het |
| Kcnj12 |
C |
T |
11: 61,069,604 |
Q243* |
probably null |
Het |
| Lrrn1 |
T |
A |
6: 107,567,850 |
V203E |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,409,710 |
S338P |
possibly damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,434,741 |
K120E |
possibly damaging |
Het |
| Olfr118 |
T |
A |
17: 37,672,656 |
L211H |
probably damaging |
Het |
| Olfr790 |
T |
C |
10: 129,501,847 |
L313S |
probably benign |
Het |
| Olfr802 |
G |
A |
10: 129,681,830 |
T303I |
probably benign |
Het |
| Olfr93 |
T |
A |
17: 37,151,186 |
N262I |
possibly damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,036,225 |
S452P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,201,670 |
I2982V |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,587,101 |
R285C |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,620,288 |
D486G |
probably damaging |
Het |
| Rbm27 |
A |
T |
18: 42,275,480 |
|
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,304,036 |
Y1475C |
possibly damaging |
Het |
| Snx14 |
G |
A |
9: 88,413,560 |
T184M |
probably damaging |
Het |
| Tgm5 |
G |
T |
2: 121,075,169 |
N168K |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,424,032 |
V47A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,826,371 |
H3599R |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,215,475 |
E211G |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,730,647 |
H832Q |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,626,034 |
V250D |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,185,824 |
S462P |
unknown |
Het |
|
| Other mutations in Myl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03206:Myl10
|
APN |
5 |
136697942 |
nonsense |
probably null |
|
|
G1Funyon:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
PIT4243001:Myl10
|
UTSW |
5 |
136694293 |
missense |
probably benign |
0.05 |
|
R4066:Myl10
|
UTSW |
5 |
136695450 |
missense |
probably damaging |
1.00 |
|
R5712:Myl10
|
UTSW |
5 |
136694238 |
missense |
probably damaging |
1.00 |
|
R6321:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R6322:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R6566:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R6756:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R6757:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R6894:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7033:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7152:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7242:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7411:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7484:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7535:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7537:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7630:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7631:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7635:Myl10
|
UTSW |
5 |
136700864 |
missense |
probably benign |
0.00 |
|
R7764:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R7829:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8065:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8066:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8067:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8202:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8203:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8204:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8206:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8217:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8248:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8300:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8301:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8343:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8731:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8732:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R8831:Myl10
|
UTSW |
5 |
136697971 |
missense |
probably benign |
0.00 |
|
R9324:Myl10
|
UTSW |
5 |
136700933 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTAGAAACTTCATGTCCGG -3'
(R):5'- TATGATAGCCCTGTACTGCCCC -3'
Sequencing Primer
(F):5'- GCTTTTCCACAAGACATGATGGC -3'
(R):5'- GTACTGCCCCCTGCCCAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation