Incidental Mutation 'R1261:Myh7b'
ID |
151591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myh7b
|
Ensembl Gene |
ENSMUSG00000074652 |
Gene Name |
myosin, heavy chain 7B, cardiac muscle, beta |
Synonyms |
Myh14 |
MMRRC Submission |
039328-MU
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1261 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155611212-155634307 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155621083 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 453
(K453R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092995]
|
AlphaFold |
A2AQP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092995
AA Change: K453R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090672 Gene: ENSMUSG00000074652 AA Change: K453R
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
32 |
72 |
4.7e-14 |
PFAM |
MYSc
|
78 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
2.6e0 |
SMART |
Pfam:Myosin_tail_1
|
850 |
1931 |
5.5e-149 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102357
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,935,488 |
V114A |
probably benign |
Het |
Arhgef38 |
T |
C |
3: 133,160,863 |
E171G |
possibly damaging |
Het |
Arsi |
A |
G |
18: 60,916,671 |
T209A |
probably damaging |
Het |
BC005561 |
A |
G |
5: 104,520,635 |
T1008A |
probably damaging |
Het |
Bmp3 |
A |
T |
5: 98,879,926 |
R468S |
probably damaging |
Het |
Cenpk |
T |
A |
13: 104,230,785 |
V43E |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,719,450 |
M336I |
probably benign |
Het |
Cul9 |
G |
T |
17: 46,525,782 |
L1106M |
probably damaging |
Het |
Dnajc9 |
G |
A |
14: 20,388,697 |
|
probably null |
Het |
Enpp3 |
A |
T |
10: 24,774,934 |
V768E |
probably damaging |
Het |
Klk5 |
T |
C |
7: 43,845,290 |
S66P |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,234,137 |
D6G |
possibly damaging |
Het |
Nipsnap3b |
G |
T |
4: 53,015,166 |
G71V |
probably damaging |
Het |
Oas1h |
A |
G |
5: 120,871,867 |
E335G |
probably benign |
Het |
Olfr1002 |
A |
C |
2: 85,647,799 |
I174S |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 111,288,242 |
R326Q |
probably damaging |
Het |
Slc10a1 |
T |
A |
12: 80,967,830 |
M39L |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,655,288 |
R79Q |
probably damaging |
Het |
Tmprss11d |
T |
C |
5: 86,309,380 |
D140G |
possibly damaging |
Het |
|
Other mutations in Myh7b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00931:Myh7b
|
APN |
2 |
155630292 |
missense |
probably damaging |
0.99 |
IGL01604:Myh7b
|
APN |
2 |
155632407 |
missense |
probably damaging |
0.96 |
IGL02179:Myh7b
|
APN |
2 |
155614491 |
missense |
probably benign |
0.02 |
IGL02729:Myh7b
|
APN |
2 |
155625689 |
missense |
probably damaging |
1.00 |
IGL02804:Myh7b
|
APN |
2 |
155625723 |
missense |
probably damaging |
1.00 |
IGL02851:Myh7b
|
APN |
2 |
155628827 |
missense |
probably damaging |
1.00 |
IGL02956:Myh7b
|
APN |
2 |
155632903 |
missense |
probably damaging |
1.00 |
IGL02956:Myh7b
|
APN |
2 |
155625954 |
missense |
possibly damaging |
0.95 |
IGL02992:Myh7b
|
APN |
2 |
155621410 |
missense |
probably damaging |
0.99 |
IGL03060:Myh7b
|
APN |
2 |
155632751 |
missense |
probably damaging |
1.00 |
IGL03061:Myh7b
|
APN |
2 |
155620111 |
missense |
possibly damaging |
0.93 |
IGL03226:Myh7b
|
APN |
2 |
155620483 |
nonsense |
probably null |
|
IGL03246:Myh7b
|
APN |
2 |
155617872 |
missense |
probably damaging |
1.00 |
IGL03382:Myh7b
|
APN |
2 |
155623479 |
missense |
probably damaging |
1.00 |
euclidian
|
UTSW |
2 |
155633399 |
missense |
probably benign |
0.32 |
imaginary
|
UTSW |
2 |
155632255 |
missense |
probably benign |
0.36 |
Irrational
|
UTSW |
2 |
155630672 |
unclassified |
probably benign |
|
Muscoli
|
UTSW |
2 |
155620118 |
nonsense |
probably null |
|
R0015:Myh7b
|
UTSW |
2 |
155622286 |
missense |
probably damaging |
1.00 |
R0015:Myh7b
|
UTSW |
2 |
155622286 |
missense |
probably damaging |
1.00 |
R0109:Myh7b
|
UTSW |
2 |
155611674 |
missense |
possibly damaging |
0.92 |
R0309:Myh7b
|
UTSW |
2 |
155630672 |
unclassified |
probably benign |
|
R0567:Myh7b
|
UTSW |
2 |
155626398 |
missense |
probably damaging |
1.00 |
R0619:Myh7b
|
UTSW |
2 |
155611722 |
missense |
probably benign |
0.00 |
R0927:Myh7b
|
UTSW |
2 |
155620120 |
missense |
probably damaging |
1.00 |
R0973:Myh7b
|
UTSW |
2 |
155620427 |
missense |
probably benign |
|
R0973:Myh7b
|
UTSW |
2 |
155620427 |
missense |
probably benign |
|
R0974:Myh7b
|
UTSW |
2 |
155620427 |
missense |
probably benign |
|
R1137:Myh7b
|
UTSW |
2 |
155622714 |
missense |
probably damaging |
1.00 |
R1268:Myh7b
|
UTSW |
2 |
155614046 |
nonsense |
probably null |
|
R1537:Myh7b
|
UTSW |
2 |
155631787 |
missense |
probably damaging |
0.96 |
R1632:Myh7b
|
UTSW |
2 |
155620525 |
missense |
probably benign |
0.04 |
R1694:Myh7b
|
UTSW |
2 |
155613193 |
missense |
probably damaging |
0.99 |
R1697:Myh7b
|
UTSW |
2 |
155620134 |
missense |
probably damaging |
1.00 |
R1730:Myh7b
|
UTSW |
2 |
155625672 |
missense |
possibly damaging |
0.73 |
R1762:Myh7b
|
UTSW |
2 |
155630858 |
missense |
probably damaging |
0.96 |
R1783:Myh7b
|
UTSW |
2 |
155625672 |
missense |
possibly damaging |
0.73 |
R2105:Myh7b
|
UTSW |
2 |
155629457 |
missense |
probably benign |
0.00 |
R2140:Myh7b
|
UTSW |
2 |
155620123 |
missense |
probably damaging |
1.00 |
R2971:Myh7b
|
UTSW |
2 |
155632255 |
missense |
probably benign |
0.36 |
R3838:Myh7b
|
UTSW |
2 |
155632989 |
missense |
probably damaging |
1.00 |
R4074:Myh7b
|
UTSW |
2 |
155618758 |
missense |
probably damaging |
0.96 |
R4191:Myh7b
|
UTSW |
2 |
155633399 |
missense |
probably benign |
0.32 |
R4689:Myh7b
|
UTSW |
2 |
155630514 |
missense |
possibly damaging |
0.75 |
R4695:Myh7b
|
UTSW |
2 |
155614177 |
missense |
probably damaging |
1.00 |
R4697:Myh7b
|
UTSW |
2 |
155629322 |
missense |
probably damaging |
1.00 |
R4771:Myh7b
|
UTSW |
2 |
155626394 |
nonsense |
probably null |
|
R4794:Myh7b
|
UTSW |
2 |
155623266 |
missense |
probably benign |
0.00 |
R4842:Myh7b
|
UTSW |
2 |
155633989 |
missense |
probably benign |
0.45 |
R4871:Myh7b
|
UTSW |
2 |
155613500 |
missense |
probably benign |
0.18 |
R5022:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5023:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5025:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5050:Myh7b
|
UTSW |
2 |
155631750 |
missense |
probably benign |
0.00 |
R5055:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5056:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5161:Myh7b
|
UTSW |
2 |
155632373 |
missense |
possibly damaging |
0.75 |
R5284:Myh7b
|
UTSW |
2 |
155632314 |
missense |
probably benign |
|
R5422:Myh7b
|
UTSW |
2 |
155631034 |
missense |
probably damaging |
0.99 |
R5505:Myh7b
|
UTSW |
2 |
155632672 |
missense |
probably benign |
0.01 |
R5946:Myh7b
|
UTSW |
2 |
155621395 |
missense |
probably damaging |
1.00 |
R6089:Myh7b
|
UTSW |
2 |
155622489 |
missense |
probably damaging |
1.00 |
R6103:Myh7b
|
UTSW |
2 |
155618743 |
missense |
probably damaging |
1.00 |
R6233:Myh7b
|
UTSW |
2 |
155631799 |
missense |
possibly damaging |
0.85 |
R6292:Myh7b
|
UTSW |
2 |
155632396 |
missense |
probably damaging |
1.00 |
R6350:Myh7b
|
UTSW |
2 |
155628760 |
missense |
probably benign |
0.00 |
R6484:Myh7b
|
UTSW |
2 |
155628643 |
missense |
probably benign |
0.05 |
R6760:Myh7b
|
UTSW |
2 |
155620118 |
nonsense |
probably null |
|
R6896:Myh7b
|
UTSW |
2 |
155622568 |
critical splice donor site |
probably null |
|
R6945:Myh7b
|
UTSW |
2 |
155622232 |
missense |
possibly damaging |
0.95 |
R7020:Myh7b
|
UTSW |
2 |
155631751 |
missense |
possibly damaging |
0.56 |
R7052:Myh7b
|
UTSW |
2 |
155614133 |
missense |
probably damaging |
1.00 |
R7102:Myh7b
|
UTSW |
2 |
155622199 |
missense |
probably damaging |
1.00 |
R7248:Myh7b
|
UTSW |
2 |
155622186 |
missense |
probably damaging |
1.00 |
R7303:Myh7b
|
UTSW |
2 |
155618740 |
missense |
probably damaging |
1.00 |
R7360:Myh7b
|
UTSW |
2 |
155632540 |
missense |
probably benign |
0.38 |
R7652:Myh7b
|
UTSW |
2 |
155632236 |
missense |
probably damaging |
0.99 |
R7678:Myh7b
|
UTSW |
2 |
155617778 |
splice site |
probably null |
|
R7703:Myh7b
|
UTSW |
2 |
155620436 |
missense |
probably null |
1.00 |
R7711:Myh7b
|
UTSW |
2 |
155620403 |
missense |
probably damaging |
1.00 |
R7923:Myh7b
|
UTSW |
2 |
155625966 |
missense |
probably benign |
|
R7967:Myh7b
|
UTSW |
2 |
155614199 |
splice site |
probably null |
|
R8045:Myh7b
|
UTSW |
2 |
155613181 |
missense |
probably benign |
0.00 |
R8176:Myh7b
|
UTSW |
2 |
155625966 |
missense |
probably benign |
0.06 |
R8272:Myh7b
|
UTSW |
2 |
155632904 |
missense |
probably damaging |
1.00 |
R8560:Myh7b
|
UTSW |
2 |
155623204 |
missense |
possibly damaging |
0.93 |
R8706:Myh7b
|
UTSW |
2 |
155611749 |
critical splice donor site |
probably null |
|
R8824:Myh7b
|
UTSW |
2 |
155630381 |
missense |
probably benign |
0.02 |
R8832:Myh7b
|
UTSW |
2 |
155633262 |
missense |
probably benign |
0.00 |
R9079:Myh7b
|
UTSW |
2 |
155623254 |
missense |
probably damaging |
0.97 |
R9151:Myh7b
|
UTSW |
2 |
155632519 |
missense |
probably damaging |
1.00 |
R9311:Myh7b
|
UTSW |
2 |
155621333 |
missense |
probably damaging |
1.00 |
R9332:Myh7b
|
UTSW |
2 |
155628802 |
missense |
probably damaging |
1.00 |
R9357:Myh7b
|
UTSW |
2 |
155621348 |
missense |
probably damaging |
1.00 |
R9388:Myh7b
|
UTSW |
2 |
155631063 |
missense |
probably benign |
0.28 |
X0013:Myh7b
|
UTSW |
2 |
155631169 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATGTTACCAAGGGCCAGAGTGTG -3'
(R):5'- GAAGTCGATGAAGACCCAGTCGATG -3'
Sequencing Primer
(F):5'- CCAGAGTGTGGAGCAGGTG -3'
(R):5'- GCTGCTCGAAGCTGTTAAAC -3'
|
Posted On |
2014-01-29 |