Incidental Mutation 'R8203:Myl10'
| ID |
635761 |
| 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 |
067626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8203 (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: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,369 (GRCm39) |
I148T |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,776,414 (GRCm39) |
T307A |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,315,042 (GRCm39) |
D65G |
probably damaging |
Het |
| Aicda |
T |
C |
6: 122,538,076 (GRCm39) |
V78A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,257,579 (GRCm39) |
D1282G |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,583,781 (GRCm39) |
S1271P |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,802,469 (GRCm39) |
D537N |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,693,443 (GRCm39) |
S2017T |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,596,877 (GRCm39) |
Q493H |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,594,986 (GRCm39) |
Y1371N |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,831 (GRCm39) |
T1095A |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,425,451 (GRCm39) |
M69V |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,869,584 (GRCm39) |
V145E |
probably damaging |
Het |
| Ddx3y |
T |
C |
Y: 1,269,827 (GRCm39) |
E185G |
probably benign |
Het |
| Dgke |
G |
A |
11: 88,941,193 (GRCm39) |
A330V |
probably benign |
Het |
| Dyrk4 |
A |
G |
6: 126,871,797 (GRCm39) |
L157P |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,240,548 (GRCm39) |
S337R |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,789,916 (GRCm39) |
M805L |
possibly damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
T |
A |
2: 113,355,620 (GRCm39) |
M785K |
unknown |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 56,423,008 (GRCm39) |
T230I |
possibly damaging |
Het |
| Gle1 |
A |
G |
2: 29,825,522 (GRCm39) |
D4G |
probably benign |
Het |
| Gm5468 |
T |
C |
15: 25,414,527 (GRCm39) |
S26P |
noncoding transcript |
Het |
| Igsf10 |
A |
T |
3: 59,236,254 (GRCm39) |
L1309Q |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,944,283 (GRCm39) |
K164R |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,333 (GRCm39) |
T111K |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,599 (GRCm39) |
T399A |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,328 (GRCm39) |
I946V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,039,259 (GRCm39) |
K6927* |
probably null |
Het |
| Nipal4 |
A |
T |
11: 46,041,147 (GRCm39) |
D349E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,915,939 (GRCm39) |
T55S |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,844 (GRCm39) |
I150F |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,049,170 (GRCm39) |
N294D |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,006,676 (GRCm39) |
H154Q |
unknown |
Het |
| Polr2m |
T |
G |
9: 71,386,768 (GRCm39) |
M338L |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,376 (GRCm39) |
L995P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,705,179 (GRCm39) |
H694Q |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,670,524 (GRCm39) |
K23E |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,437,519 (GRCm39) |
Y245* |
probably null |
Het |
| Shpk |
A |
C |
11: 73,104,904 (GRCm39) |
D171A |
probably benign |
Het |
| Slc2a7 |
G |
T |
4: 150,243,015 (GRCm39) |
E279* |
probably null |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Srcin1 |
G |
T |
11: 97,457,539 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,476 (GRCm39) |
F823S |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tdrd9 |
T |
A |
12: 111,992,064 (GRCm39) |
V613E |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,563,007 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
T |
9: 120,997,274 (GRCm39) |
M766K |
probably damaging |
Het |
| Wdr36 |
G |
T |
18: 32,985,136 (GRCm39) |
G481* |
probably null |
Het |
| Yme1l1 |
G |
A |
2: 23,054,538 (GRCm39) |
R119H |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
probably damaging |
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 |
|
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'- TAATGATGCAGCTGGAGTAGTTC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation