Incidental Mutation 'IGL03199:Myl7'
| ID |
412938 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myl7
|
| Ensembl Gene |
ENSMUSG00000020469 |
| Gene Name |
myosin, light polypeptide 7, regulatory |
| Synonyms |
MLC2a, RLC-A, Mylc2a, MLC-2alpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5846637-5848782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5848205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 50
(G50R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102920]
[ENSMUST00000102921]
[ENSMUST00000109822]
[ENSMUST00000109823]
|
| AlphaFold |
Q9QVP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102920
|
| SMART Domains |
Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
10 |
217 |
4.3e-80 |
PFAM |
|
Pfam:Hexokinase_2
|
219 |
458 |
1.3e-100 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102921
AA Change: G50R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: G50R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
EFh
|
36 |
64 |
1.02e-2 |
SMART |
|
EFh
|
106 |
134 |
8.25e-3 |
SMART |
|
Blast:EFh
|
142 |
170 |
9e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109822
|
| SMART Domains |
Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
10 |
217 |
1e-79 |
PFAM |
|
Pfam:Hexokinase_2
|
219 |
458 |
7.8e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109823
|
| SMART Domains |
Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
15 |
216 |
1.9e-74 |
PFAM |
|
Pfam:Hexokinase_2
|
221 |
455 |
2.2e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125434
|
| SMART Domains |
Protein: ENSMUSP00000123016
Gene: ENSMUSG00000041798
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
Pfam:Hexokinase_2
|
45 |
87 |
1.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryos homozygous for a knock-in allele show lack of atrial myofibrillar organization, atrial malfunction, aberrant cardiac chamber and looping morphogenesis, defects in yolk sac and intraembryonic vasculature, growth arrest, pericardial edema, and death at E10.5-E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
| Fndc3c1 |
T |
A |
X: 105,479,993 (GRCm39) |
K696N |
possibly damaging |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,682,842 (GRCm39) |
E16G |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Or10d4b |
A |
G |
9: 39,535,240 (GRCm39) |
I272V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
| Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
| Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
| Trim43b |
T |
G |
9: 88,971,481 (GRCm39) |
Q225P |
probably damaging |
Het |
| Ugt2b34 |
A |
G |
5: 87,054,739 (GRCm39) |
L14P |
unknown |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
| Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
probably benign |
Het |
|
| Other mutations in Myl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02957:Myl7
|
APN |
11 |
5,847,137 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2370:Myl7
|
UTSW |
11 |
5,846,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3902:Myl7
|
UTSW |
11 |
5,848,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3902:Myl7
|
UTSW |
11 |
5,848,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Myl7
|
UTSW |
11 |
5,847,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Myl7
|
UTSW |
11 |
5,848,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5293:Myl7
|
UTSW |
11 |
5,848,521 (GRCm39) |
unclassified |
probably benign |
|
|
R7666:Myl7
|
UTSW |
11 |
5,847,140 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7862:Myl7
|
UTSW |
11 |
5,847,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation