Incidental Mutation 'R7152:Myl10'
| ID |
554189 |
| 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 |
045254-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7152 (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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl10 |
A |
G |
11: 58,813,223 (GRCm39) |
N284S |
probably benign |
Het |
| Casz1 |
C |
G |
4: 148,985,748 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
A |
T |
4: 109,522,235 (GRCm39) |
F37I |
probably damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,351,066 (GRCm39) |
K22E |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,901 (GRCm39) |
W104R |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,934 (GRCm39) |
Y223* |
probably null |
Het |
| Cited2 |
C |
A |
10: 17,600,134 (GRCm39) |
N147K |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,525,095 (GRCm39) |
L904Q |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,802,937 (GRCm39) |
V79A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,152 (GRCm39) |
R55W |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,455,384 (GRCm39) |
F477L |
|
Het |
| Ctnna2 |
T |
A |
6: 76,957,807 (GRCm39) |
T481S |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,414,464 (GRCm39) |
T570A |
possibly damaging |
Het |
| Epha7 |
A |
G |
4: 28,935,826 (GRCm39) |
K483E |
possibly damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,935,678 (GRCm39) |
I150F |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,629 (GRCm39) |
S827P |
possibly damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,065 (GRCm39) |
I291F |
possibly damaging |
Het |
| Foxd3 |
A |
C |
4: 99,545,562 (GRCm39) |
H234P |
probably benign |
Het |
| Ggta1 |
T |
A |
2: 35,292,711 (GRCm39) |
M199L |
probably benign |
Het |
| H3c13 |
A |
G |
3: 96,176,254 (GRCm39) |
D82G |
probably benign |
Het |
| Ighv5-15 |
T |
C |
12: 113,790,317 (GRCm39) |
E101G |
probably benign |
Het |
| Igkv8-18 |
T |
C |
6: 70,333,205 (GRCm39) |
L49P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,371,368 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
C |
T |
8: 120,596,953 (GRCm39) |
T218M |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,224,529 (GRCm39) |
F65S |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,909,053 (GRCm39) |
V244A |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,305 (GRCm39) |
I642F |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,153,557 (GRCm39) |
D2456G |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,595,899 (GRCm39) |
M522T |
probably benign |
Het |
| Or51k1 |
T |
A |
7: 103,661,226 (GRCm39) |
M228L |
probably benign |
Het |
| Or8k33 |
C |
T |
2: 86,383,673 (GRCm39) |
S265N |
probably benign |
Het |
| Pam |
T |
A |
1: 97,813,465 (GRCm39) |
M322L |
probably damaging |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,854 (GRCm39) |
H448Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,247,194 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,449,593 (GRCm39) |
D142E |
probably benign |
Het |
| Pomgnt2 |
C |
T |
9: 121,812,589 (GRCm39) |
G64D |
probably damaging |
Het |
| Sds |
A |
T |
5: 120,619,716 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
G |
T |
3: 15,607,230 (GRCm39) |
Q351K |
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,541,453 (GRCm39) |
M436K |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,095,025 (GRCm39) |
G872D |
probably benign |
Het |
| Stxbp2 |
T |
G |
8: 3,682,583 (GRCm39) |
S57R |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,956,445 (GRCm39) |
D272V |
probably benign |
Het |
| Supt5 |
A |
G |
7: 28,023,325 (GRCm39) |
M318T |
probably benign |
Het |
| Tdpoz3 |
T |
C |
3: 93,733,772 (GRCm39) |
V149A |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,869,871 (GRCm39) |
S124T |
possibly damaging |
Het |
| Tssc4 |
T |
A |
7: 142,624,139 (GRCm39) |
V149D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn1r37 |
T |
C |
6: 66,708,883 (GRCm39) |
Y170H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,727,513 (GRCm39) |
V11E |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,674,839 (GRCm39) |
V1963A |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,700,198 (GRCm39) |
A19E |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,325,888 (GRCm39) |
S784G |
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 |
|
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'- AATGATGCAGCTGGAGTAGTTC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation