Incidental Mutation 'R5712:Myl10'
| ID |
450939 |
| 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 |
043334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5712 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136722000-136729948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136723092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 14
(F14L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005611]
[ENSMUST00000196068]
[ENSMUST00000196436]
[ENSMUST00000197186]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005611
AA Change: F14L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
AA Change: F14L
| 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 damaging
Transcript: ENSMUST00000196068
AA Change: F14L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
AA Change: F14L
| 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
|
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000197849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199074
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,563 (GRCm39) |
T133A |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,626,715 (GRCm39) |
E708K |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,475,883 (GRCm39) |
C300R |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,675,646 (GRCm39) |
N52D |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,959,297 (GRCm39) |
S2225T |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,716,995 (GRCm39) |
Y257F |
probably damaging |
Het |
| Atp2b4 |
A |
C |
1: 133,658,278 (GRCm39) |
V544G |
probably damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,209,277 (GRCm39) |
Y498D |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,796,954 (GRCm39) |
I1520T |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,168,378 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,471,992 (GRCm39) |
P129Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,390,332 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,679 (GRCm39) |
Y93* |
probably null |
Het |
| Erich6b |
T |
A |
14: 75,896,340 (GRCm39) |
D75E |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,390,476 (GRCm39) |
Y350* |
probably null |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fga |
C |
T |
3: 82,940,440 (GRCm39) |
T698I |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,839,192 (GRCm39) |
S6987P |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,421 (GRCm39) |
N106I |
possibly damaging |
Het |
| Gls |
T |
A |
1: 52,235,911 (GRCm39) |
K401N |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,291,254 (GRCm39) |
K146E |
probably damaging |
Het |
| Gpr3 |
A |
G |
4: 132,937,719 (GRCm39) |
S318P |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,205 (GRCm39) |
V679A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,409,678 (GRCm39) |
L127H |
probably damaging |
Het |
| Lck |
G |
T |
4: 129,450,103 (GRCm39) |
H214Q |
probably benign |
Het |
| Lrch4 |
A |
C |
5: 137,636,188 (GRCm39) |
S380R |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,425 (GRCm39) |
K414* |
probably null |
Het |
| Maco1 |
A |
T |
4: 134,555,369 (GRCm39) |
M368K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,344,058 (GRCm39) |
E126G |
probably damaging |
Het |
| Mknk1 |
A |
G |
4: 115,712,203 (GRCm39) |
|
probably null |
Het |
| Mst1 |
T |
C |
9: 107,960,107 (GRCm39) |
C355R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,872,841 (GRCm39) |
E890V |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,543 (GRCm39) |
T1291A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,265,105 (GRCm39) |
Q335R |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,888 (GRCm39) |
T83A |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,756 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf17 |
G |
A |
14: 56,708,856 (GRCm39) |
V759I |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,511,677 (GRCm39) |
Y18* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,732,010 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
T |
A |
3: 122,914,859 (GRCm39) |
I56F |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,937,299 (GRCm39) |
G1250C |
probably damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,288 (GRCm39) |
G164D |
probably damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,858 (GRCm39) |
Y67H |
probably damaging |
Het |
| Trim3 |
T |
A |
7: 105,268,743 (GRCm39) |
E70D |
probably damaging |
Het |
| Uap1 |
A |
G |
1: 169,994,414 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,925 (GRCm39) |
V76D |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,743 (GRCm39) |
S3245A |
probably benign |
Het |
| Wnt7a |
T |
C |
6: 91,343,186 (GRCm39) |
Y232C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,360 (GRCm39) |
V4224A |
unknown |
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 |
|
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 |
|
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'- AGAGGTTCAGAGAGGGTTCC -3'
(R):5'- ACCAAGTCCTCTTGTCACATTG -3'
Sequencing Primer
(F):5'- TTCAGAGAGGGTTCCCAGGATG -3'
(R):5'- CAAGTCCTCTTGTCACATTGGAAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation