Incidental Mutation 'R3779:Myl12a'
| ID |
271984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl12a
|
| Ensembl Gene |
ENSMUSG00000024048 |
| Gene Name |
myosin, light chain 12A, regulatory, non-sarcomeric |
| Synonyms |
NMDA receptor-interacting protein, brain specific myosin regulatory light chain, 2900073G15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R3779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71300788-71309528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71301631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 165
(H165Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024846]
[ENSMUST00000038446]
[ENSMUST00000123686]
[ENSMUST00000128179]
[ENSMUST00000148960]
[ENSMUST00000150456]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024846
AA Change: H165Q
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: H165Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
EFh
|
33 |
61 |
2.52e-7 |
SMART |
|
EFh
|
102 |
130 |
6.95e0 |
SMART |
|
Blast:EFh
|
138 |
166 |
6e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038446
|
| SMART Domains |
Protein: ENSMUSP00000042364
Gene: ENSMUSG00000034868
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
EFh
|
33 |
61 |
1.26e-7 |
SMART |
|
EFh
|
102 |
130 |
1.25e0 |
SMART |
|
Blast:EFh
|
138 |
166 |
6e-12 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123686
AA Change: H165Q
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: H165Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
EFh
|
33 |
61 |
2.52e-7 |
SMART |
|
EFh
|
102 |
130 |
6.95e0 |
SMART |
|
Blast:EFh
|
138 |
166 |
6e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126529
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128179
|
| SMART Domains |
Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_1
|
33 |
58 |
7.7e-9 |
PFAM |
|
Pfam:EF-hand_6
|
33 |
58 |
7.4e-9 |
PFAM |
|
Pfam:EF-hand_5
|
34 |
58 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131820
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148960
AA Change: H165Q
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: H165Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
EFh
|
33 |
61 |
2.52e-7 |
SMART |
|
EFh
|
102 |
130 |
6.95e0 |
SMART |
|
Blast:EFh
|
138 |
166 |
6e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150456
|
| SMART Domains |
Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_7
|
13 |
78 |
1.2e-8 |
PFAM |
|
Pfam:EF-hand_1
|
33 |
61 |
1.7e-9 |
PFAM |
|
Pfam:EF-hand_6
|
33 |
62 |
1.8e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,273 (GRCm39) |
C73R |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,665,628 (GRCm39) |
V371A |
probably damaging |
Het |
| Ambn |
C |
A |
5: 88,613,201 (GRCm39) |
|
probably benign |
Het |
| Ankrd34a |
T |
C |
3: 96,506,247 (GRCm39) |
F484L |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,568 (GRCm39) |
K637R |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,962,337 (GRCm39) |
S1968P |
possibly damaging |
Het |
| Cfap61 |
T |
C |
2: 145,792,714 (GRCm39) |
I52T |
probably damaging |
Het |
| Cit |
A |
T |
5: 115,997,400 (GRCm39) |
M128L |
probably benign |
Het |
| Cnga1 |
G |
T |
5: 72,762,126 (GRCm39) |
L463I |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,094,448 (GRCm39) |
|
probably benign |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,839,515 (GRCm39) |
I1853T |
unknown |
Het |
| Flg2 |
C |
T |
3: 93,109,730 (GRCm39) |
S586L |
unknown |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm21886 |
G |
T |
18: 80,132,649 (GRCm39) |
Q170K |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Gm9376 |
T |
C |
14: 118,504,727 (GRCm39) |
V53A |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,574 (GRCm39) |
T90A |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,206,428 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Jak1 |
G |
A |
4: 101,013,687 (GRCm39) |
H1014Y |
probably benign |
Het |
| Klrb1c |
T |
C |
6: 128,757,306 (GRCm39) |
D253G |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,614,569 (GRCm39) |
T404M |
probably damaging |
Het |
| Map3k9 |
A |
T |
12: 81,790,565 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,039,926 (GRCm39) |
|
probably benign |
Het |
| Or6c38 |
A |
G |
10: 128,929,165 (GRCm39) |
F226S |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,205,738 (GRCm39) |
S575T |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,569,118 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,260 (GRCm39) |
T181S |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,499,741 (GRCm39) |
V928A |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,636,237 (GRCm39) |
|
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,579 (GRCm39) |
Y443H |
unknown |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syncrip |
A |
C |
9: 88,358,992 (GRCm39) |
D172E |
probably damaging |
Het |
| Tex26 |
T |
C |
5: 149,369,316 (GRCm39) |
I48T |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,853,403 (GRCm39) |
I1808L |
possibly damaging |
Het |
| Uba2 |
T |
C |
7: 33,854,071 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
T |
A |
14: 79,339,762 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,731,048 (GRCm39) |
R1095W |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
| Other mutations in Myl12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01670:Myl12a
|
APN |
17 |
71,303,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01949:Myl12a
|
APN |
17 |
71,303,709 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02136:Myl12a
|
APN |
17 |
71,303,851 (GRCm39) |
nonsense |
probably null |
|
|
R3405:Myl12a
|
UTSW |
17 |
71,301,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3406:Myl12a
|
UTSW |
17 |
71,301,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3777:Myl12a
|
UTSW |
17 |
71,301,631 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4757:Myl12a
|
UTSW |
17 |
71,303,798 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4798:Myl12a
|
UTSW |
17 |
71,303,297 (GRCm39) |
intron |
probably benign |
|
|
R5086:Myl12a
|
UTSW |
17 |
71,301,611 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5419:Myl12a
|
UTSW |
17 |
71,301,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7838:Myl12a
|
UTSW |
17 |
71,303,166 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8390:Myl12a
|
UTSW |
17 |
71,303,231 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACAGAAGGTCCCATTTCCAG -3'
(R):5'- ACAGGCTGTGAAGTTGAGTG -3'
Sequencing Primer
(F):5'- CCAGTATTATAAGGTACATGTGGCCC -3'
(R):5'- AGTGTGGGTTCTCTGACCCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation