Incidental Mutation 'R3902:Myl7'
| ID |
309244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl7
|
| Ensembl Gene |
ENSMUSG00000020469 |
| Gene Name |
myosin, light polypeptide 7, regulatory |
| Synonyms |
MLC2a, RLC-A, Mylc2a, MLC-2alpha |
| MMRRC Submission |
040811-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5846637-5848782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5848431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 38
(K38Q)
|
| 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: K38Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: K38Q
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
| Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,418,526 (GRCm39) |
M1T |
probably null |
Het |
| Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,016 (GRCm39) |
D217G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
| Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,276 (GRCm39) |
T315I |
probably damaging |
Het |
| Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
| Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
| Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
| Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
| Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
| Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
probably damaging |
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 |
|
IGL03199:Myl7
|
APN |
11 |
5,848,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2370:Myl7
|
UTSW |
11 |
5,846,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCAATGCAGCTGAAGGC -3'
(R):5'- ACTCCCACGAGACTACATGAGG -3'
Sequencing Primer
(F):5'- CAATGCAGCTGAAGGCCTGTG -3'
(R):5'- CTACATGAGGTAGGGAGGAGGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation