Incidental Mutation 'R8732:Myl10'
| ID |
662796 |
| 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 |
068580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8732 (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: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,981,622 (GRCm39) |
N82K |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,906 (GRCm39) |
S57T |
possibly damaging |
Het |
| Aoc3 |
A |
G |
11: 101,222,643 (GRCm39) |
N293S |
probably benign |
Het |
| Aup1 |
A |
T |
6: 83,033,602 (GRCm39) |
H302L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,931,206 (GRCm39) |
R277W |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,734,946 (GRCm39) |
I346V |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,664,645 (GRCm39) |
T519A |
possibly damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,195 (GRCm39) |
V57A |
possibly damaging |
Het |
| Cpt1b |
G |
C |
15: 89,308,628 (GRCm39) |
T100S |
probably benign |
Het |
| D6Wsu163e |
A |
T |
6: 126,932,859 (GRCm39) |
I361F |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,449 (GRCm39) |
D153E |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,168,326 (GRCm39) |
R430S |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,922,220 (GRCm39) |
T414S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,695,100 (GRCm39) |
F1730L |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,782,218 (GRCm39) |
G1405R |
probably damaging |
Het |
| Ergic2 |
G |
A |
6: 148,102,975 (GRCm39) |
A91V |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,419,754 (GRCm39) |
I336L |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,223 (GRCm39) |
T165A |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,807,291 (GRCm39) |
I1662V |
possibly damaging |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,875,239 (GRCm39) |
A911S |
probably damaging |
Het |
| Ighd |
T |
C |
12: 113,378,183 (GRCm39) |
N139D |
|
Het |
| Klhl22 |
T |
A |
16: 17,589,690 (GRCm39) |
L117Q |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,928,180 (GRCm39) |
S1226G |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,481 (GRCm39) |
C2126S |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,650,985 (GRCm39) |
I468V |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,447,712 (GRCm39) |
A1253T |
unknown |
Het |
| Lta |
T |
A |
17: 35,423,045 (GRCm39) |
N93Y |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,403,563 (GRCm39) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,500,902 (GRCm39) |
|
probably null |
Het |
| Ntpcr |
A |
G |
8: 126,472,074 (GRCm39) |
M132V |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,138,061 (GRCm39) |
S233P |
probably damaging |
Het |
| Or52n1 |
A |
G |
7: 104,383,115 (GRCm39) |
M152T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,660,590 (GRCm39) |
I357V |
probably benign |
Het |
| Pax7 |
G |
T |
4: 139,506,920 (GRCm39) |
H372Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,949,541 (GRCm39) |
Y966H |
probably damaging |
Het |
| Pde4b |
A |
C |
4: 102,412,822 (GRCm39) |
D199A |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,311 (GRCm39) |
N494D |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 142,862,580 (GRCm39) |
Q237K |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,097,769 (GRCm39) |
L1091P |
probably damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,106,264 (GRCm39) |
*414Q |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rrp9 |
C |
A |
9: 106,360,388 (GRCm39) |
T238K |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,259,882 (GRCm39) |
D630G |
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,156,443 (GRCm39) |
D295G |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 73,934,054 (GRCm39) |
M706K |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,962,514 (GRCm39) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,590,180 (GRCm39) |
Y394N |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,510,442 (GRCm39) |
L341P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,809 (GRCm39) |
C334S |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,731,456 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,537,480 (GRCm39) |
K34816R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,627,735 (GRCm39) |
N14736I |
probably damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,890 (GRCm39) |
Q231R |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,439 (GRCm39) |
T255A |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,209 (GRCm39) |
I437K |
unknown |
Het |
| Ywhae |
A |
G |
11: 75,642,769 (GRCm39) |
N43D |
probably damaging |
Het |
| Zfp583 |
A |
T |
7: 6,320,210 (GRCm39) |
Y267* |
probably null |
Het |
| Zfp608 |
C |
T |
18: 55,121,072 (GRCm39) |
G172R |
probably benign |
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 |
|
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 |
|
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'- GATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation