Incidental Mutation 'R3777:Myl12a'
| ID |
271867 |
| 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 # |
R3777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dsg1b |
G |
A |
18: 20,532,644 (GRCm39) |
V563I |
probably damaging |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,708,605 (GRCm39) |
I369K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,467 (GRCm39) |
E389G |
unknown |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,535 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,428,229 (GRCm39) |
L789I |
possibly damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,888,238 (GRCm39) |
W92R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,527 (GRCm39) |
I276T |
possibly damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,905,462 (GRCm39) |
E2045D |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,983,761 (GRCm39) |
T496A |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Or13c3 |
A |
T |
4: 52,855,636 (GRCm39) |
N292K |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,519 (GRCm39) |
S230T |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,969 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,901 (GRCm39) |
S155R |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Pik3cg |
A |
C |
12: 32,244,708 (GRCm39) |
C915W |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,609,701 (GRCm39) |
H675Y |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,141,477 (GRCm39) |
V263D |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,160 (GRCm39) |
L16P |
probably damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,942,861 (GRCm39) |
E373G |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,812 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,989,852 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,180 (GRCm39) |
L215P |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,910 (GRCm39) |
D421G |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Vdac3 |
T |
C |
8: 23,070,525 (GRCm39) |
N128D |
probably benign |
Het |
| Vegfb |
G |
A |
19: 6,964,767 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTATTATAAGGTACATGTGGCC -3'
(R):5'- TGGTGGAAGTACACAGGCTG -3'
Sequencing Primer
(F):5'- GTACATGTGGCCCAAAATGG -3'
(R):5'- AGTGTGGGTTCTCTGACCCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation