Incidental Mutation 'R4066:Myl10'
| ID |
316112 |
| 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 |
040973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136722000-136729948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136724304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 70
(K70E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000005611
AA Change: K70E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
AA Change: K70E
| 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: K70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
AA Change: K70E
| 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 damaging
Transcript: ENSMUST00000196436
AA Change: K54E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
AA Change: K54E
| 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 damaging
Transcript: ENSMUST00000197186
AA Change: K54E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
AA Change: K54E
| 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 |
0.4804 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
| Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
| Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
| Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
| Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
| Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
| Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
| Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
| Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
| Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
| Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
| Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
| Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
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 |
|
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 |
|
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'- AGTTGGCCCATAGAAGCAGG -3'
(R):5'- TCTGACAGTGGAATTACAAGGG -3'
Sequencing Primer
(F):5'- CCCATAGAAGCAGGAGAGACC -3'
(R):5'- ATTACAAGGGGGAGGCTTTATG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation