Incidental Mutation 'IGL01949:Myl12a'
| ID |
180999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.399)
|
| Stock # |
IGL01949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71300788-71309528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71303709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 56
(D56G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024846]
[ENSMUST00000123686]
[ENSMUST00000128179]
[ENSMUST00000148960]
[ENSMUST00000150456]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024846
AA Change: D56G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: D56G
| 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: ENSMUST00000123686
AA Change: D56G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: D56G
| 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
AA Change: D56G
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048
AA Change: D56G
| 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 |
probably benign
Transcript: ENSMUST00000148960
AA Change: D56G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: D56G
| 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: ENSMUST00000150456
AA Change: D56G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048
AA Change: D56G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
A |
15: 101,619,048 (GRCm39) |
M278L |
probably benign |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
| Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
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 |
|
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 |
|
R3779: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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation