Incidental Mutation 'R1537:Myh7b'
ID |
169576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myh7b
|
Ensembl Gene |
ENSMUSG00000074652 |
Gene Name |
myosin, heavy chain 7B, cardiac muscle, beta |
Synonyms |
Myh14 |
MMRRC Submission |
039576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1537 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155453132-155476227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 155473707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 1580
(D1580A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041059]
[ENSMUST00000092995]
[ENSMUST00000103140]
|
AlphaFold |
A2AQP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041059
|
SMART Domains |
Protein: ENSMUSP00000037574 Gene: ENSMUSG00000038324
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
Pfam:DUF3689
|
407 |
714 |
5.2e-135 |
PFAM |
low complexity region
|
724 |
735 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092995
AA Change: D1580A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090672 Gene: ENSMUSG00000074652 AA Change: D1580A
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 |
probably benign
Transcript: ENSMUST00000103140
|
SMART Domains |
Protein: ENSMUSP00000099429 Gene: ENSMUSG00000038324
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
low complexity region
|
38 |
53 |
N/A |
INTRINSIC |
Pfam:DUF3689
|
399 |
710 |
1.1e-138 |
PFAM |
low complexity region
|
716 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124415
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154656
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,372,124 (GRCm39) |
H86L |
possibly damaging |
Het |
4930519G04Rik |
A |
G |
5: 115,008,278 (GRCm39) |
T31A |
probably benign |
Het |
Ahcyl1 |
A |
G |
3: 107,603,505 (GRCm39) |
F30S |
probably benign |
Het |
Alox5ap |
G |
A |
5: 149,201,993 (GRCm39) |
|
probably null |
Het |
Amtn |
A |
G |
5: 88,526,729 (GRCm39) |
S53G |
probably null |
Het |
Arap3 |
A |
T |
18: 38,122,737 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,979,783 (GRCm39) |
V2769E |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Bhlha9 |
C |
T |
11: 76,563,457 (GRCm39) |
S28L |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,180,169 (GRCm39) |
Y2150N |
probably damaging |
Het |
Bmpr2 |
A |
G |
1: 59,907,285 (GRCm39) |
T793A |
probably benign |
Het |
Ccdc80 |
G |
A |
16: 44,916,299 (GRCm39) |
A352T |
probably benign |
Het |
Chst2 |
A |
T |
9: 95,288,194 (GRCm39) |
F51I |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,244,163 (GRCm39) |
N412S |
unknown |
Het |
Dclk2 |
T |
C |
3: 86,713,491 (GRCm39) |
I451V |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,065,234 (GRCm39) |
S64P |
probably benign |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dnai3 |
T |
C |
3: 145,748,504 (GRCm39) |
E870G |
probably damaging |
Het |
Dusp4 |
G |
T |
8: 35,285,570 (GRCm39) |
R277L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Garem1 |
A |
T |
18: 21,301,931 (GRCm39) |
|
probably null |
Het |
Gnpat |
A |
G |
8: 125,597,555 (GRCm39) |
E39G |
probably damaging |
Het |
Golgb1 |
A |
T |
16: 36,719,150 (GRCm39) |
Q352L |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,345,096 (GRCm39) |
D803G |
probably benign |
Het |
Hps1 |
A |
G |
19: 42,748,143 (GRCm39) |
|
probably null |
Het |
Ilvbl |
G |
A |
10: 78,415,565 (GRCm39) |
R327H |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,121 (GRCm39) |
D1911G |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,166,700 (GRCm39) |
|
probably benign |
Het |
Mcm10 |
G |
A |
2: 5,003,591 (GRCm39) |
T542I |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,051,772 (GRCm39) |
V497A |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,602,646 (GRCm39) |
A1295T |
probably damaging |
Het |
Naa20 |
A |
G |
2: 145,754,438 (GRCm39) |
I101V |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,702,846 (GRCm39) |
Y229C |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,891,575 (GRCm39) |
R6986G |
unknown |
Het |
Or51h7 |
G |
A |
7: 102,591,547 (GRCm39) |
T79I |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,570 (GRCm39) |
I211V |
probably benign |
Het |
P2rx3 |
A |
G |
2: 84,853,825 (GRCm39) |
|
probably null |
Het |
Pcdhac2 |
G |
A |
18: 37,279,539 (GRCm39) |
G840R |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,762,489 (GRCm39) |
N3654S |
unknown |
Het |
Pcnx2 |
T |
A |
8: 126,604,188 (GRCm39) |
E689D |
possibly damaging |
Het |
Pds5a |
A |
G |
5: 65,804,464 (GRCm39) |
S532P |
probably benign |
Het |
Phf1 |
G |
A |
17: 27,154,372 (GRCm39) |
|
probably null |
Het |
Pkp4 |
G |
A |
2: 59,045,147 (GRCm39) |
V41M |
probably damaging |
Het |
Prlr |
T |
G |
15: 10,328,364 (GRCm39) |
|
probably null |
Het |
Prr12 |
G |
T |
7: 44,678,366 (GRCm39) |
A1954D |
unknown |
Het |
Prtg |
A |
G |
9: 72,717,039 (GRCm39) |
T127A |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,698 (GRCm39) |
L884P |
probably damaging |
Het |
Rnf170 |
T |
A |
8: 26,629,076 (GRCm39) |
D183E |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,875,242 (GRCm39) |
H339Q |
probably damaging |
Het |
Rubcnl |
T |
G |
14: 75,278,267 (GRCm39) |
S350R |
possibly damaging |
Het |
Sgo2b |
T |
A |
8: 64,379,536 (GRCm39) |
T1099S |
possibly damaging |
Het |
Ska2 |
T |
C |
11: 87,006,945 (GRCm39) |
S17P |
probably damaging |
Het |
Slc38a2 |
A |
G |
15: 96,591,034 (GRCm39) |
I243T |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,916,034 (GRCm39) |
D2007E |
possibly damaging |
Het |
Taar5 |
T |
A |
10: 23,846,620 (GRCm39) |
L6H |
probably benign |
Het |
Tbata |
G |
T |
10: 61,019,270 (GRCm39) |
|
probably null |
Het |
Tent2 |
C |
T |
13: 93,312,076 (GRCm39) |
G208D |
probably damaging |
Het |
Tmem107 |
T |
C |
11: 68,963,284 (GRCm39) |
S98P |
probably damaging |
Het |
Tpst2 |
A |
G |
5: 112,456,286 (GRCm39) |
D275G |
possibly damaging |
Het |
Ttc28 |
G |
T |
5: 111,433,184 (GRCm39) |
G2073W |
probably damaging |
Het |
Ttc7 |
T |
C |
17: 87,629,891 (GRCm39) |
V291A |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,792,327 (GRCm39) |
N2198K |
possibly damaging |
Het |
Wdr37 |
A |
T |
13: 8,887,039 (GRCm39) |
D249E |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,357 (GRCm39) |
C866F |
probably damaging |
Het |
Zfp990 |
A |
G |
4: 145,263,566 (GRCm39) |
E188G |
possibly damaging |
Het |
Zkscan2 |
A |
G |
7: 123,099,064 (GRCm39) |
S43P |
possibly damaging |
Het |
Zscan5b |
A |
G |
7: 6,236,850 (GRCm39) |
R200G |
probably benign |
Het |
|
Other mutations in Myh7b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00931:Myh7b
|
APN |
2 |
155,472,212 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01604:Myh7b
|
APN |
2 |
155,474,327 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02179:Myh7b
|
APN |
2 |
155,456,411 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02729:Myh7b
|
APN |
2 |
155,467,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02804:Myh7b
|
APN |
2 |
155,467,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02851:Myh7b
|
APN |
2 |
155,470,747 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Myh7b
|
APN |
2 |
155,467,874 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02956:Myh7b
|
APN |
2 |
155,474,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02992:Myh7b
|
APN |
2 |
155,463,330 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03060:Myh7b
|
APN |
2 |
155,474,671 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Myh7b
|
APN |
2 |
155,462,031 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03226:Myh7b
|
APN |
2 |
155,462,403 (GRCm39) |
nonsense |
probably null |
|
IGL03246:Myh7b
|
APN |
2 |
155,459,792 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03382:Myh7b
|
APN |
2 |
155,465,399 (GRCm39) |
missense |
probably damaging |
1.00 |
euclidian
|
UTSW |
2 |
155,475,319 (GRCm39) |
missense |
probably benign |
0.32 |
imaginary
|
UTSW |
2 |
155,474,175 (GRCm39) |
missense |
probably benign |
0.36 |
Irrational
|
UTSW |
2 |
155,472,592 (GRCm39) |
unclassified |
probably benign |
|
Muscoli
|
UTSW |
2 |
155,462,038 (GRCm39) |
nonsense |
probably null |
|
R0015:Myh7b
|
UTSW |
2 |
155,464,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Myh7b
|
UTSW |
2 |
155,464,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Myh7b
|
UTSW |
2 |
155,453,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0309:Myh7b
|
UTSW |
2 |
155,472,592 (GRCm39) |
unclassified |
probably benign |
|
R0567:Myh7b
|
UTSW |
2 |
155,468,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Myh7b
|
UTSW |
2 |
155,453,642 (GRCm39) |
missense |
probably benign |
0.00 |
R0927:Myh7b
|
UTSW |
2 |
155,462,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Myh7b
|
UTSW |
2 |
155,462,347 (GRCm39) |
missense |
probably benign |
|
R0973:Myh7b
|
UTSW |
2 |
155,462,347 (GRCm39) |
missense |
probably benign |
|
R0974:Myh7b
|
UTSW |
2 |
155,462,347 (GRCm39) |
missense |
probably benign |
|
R1137:Myh7b
|
UTSW |
2 |
155,464,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R1261:Myh7b
|
UTSW |
2 |
155,463,003 (GRCm39) |
missense |
probably benign |
0.00 |
R1268:Myh7b
|
UTSW |
2 |
155,455,966 (GRCm39) |
nonsense |
probably null |
|
R1632:Myh7b
|
UTSW |
2 |
155,462,445 (GRCm39) |
missense |
probably benign |
0.04 |
R1694:Myh7b
|
UTSW |
2 |
155,455,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R1697:Myh7b
|
UTSW |
2 |
155,462,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Myh7b
|
UTSW |
2 |
155,467,592 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1762:Myh7b
|
UTSW |
2 |
155,472,778 (GRCm39) |
missense |
probably damaging |
0.96 |
R1783:Myh7b
|
UTSW |
2 |
155,467,592 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2105:Myh7b
|
UTSW |
2 |
155,471,377 (GRCm39) |
missense |
probably benign |
0.00 |
R2140:Myh7b
|
UTSW |
2 |
155,462,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Myh7b
|
UTSW |
2 |
155,474,175 (GRCm39) |
missense |
probably benign |
0.36 |
R3838:Myh7b
|
UTSW |
2 |
155,474,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Myh7b
|
UTSW |
2 |
155,460,678 (GRCm39) |
missense |
probably damaging |
0.96 |
R4191:Myh7b
|
UTSW |
2 |
155,475,319 (GRCm39) |
missense |
probably benign |
0.32 |
R4689:Myh7b
|
UTSW |
2 |
155,472,434 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4695:Myh7b
|
UTSW |
2 |
155,456,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Myh7b
|
UTSW |
2 |
155,471,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Myh7b
|
UTSW |
2 |
155,468,314 (GRCm39) |
nonsense |
probably null |
|
R4794:Myh7b
|
UTSW |
2 |
155,465,186 (GRCm39) |
missense |
probably benign |
0.00 |
R4842:Myh7b
|
UTSW |
2 |
155,475,909 (GRCm39) |
missense |
probably benign |
0.45 |
R4871:Myh7b
|
UTSW |
2 |
155,455,420 (GRCm39) |
missense |
probably benign |
0.18 |
R5022:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5023:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5025:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5050:Myh7b
|
UTSW |
2 |
155,473,670 (GRCm39) |
missense |
probably benign |
0.00 |
R5055:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5056:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5161:Myh7b
|
UTSW |
2 |
155,474,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5284:Myh7b
|
UTSW |
2 |
155,474,234 (GRCm39) |
missense |
probably benign |
|
R5422:Myh7b
|
UTSW |
2 |
155,472,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R5505:Myh7b
|
UTSW |
2 |
155,474,592 (GRCm39) |
missense |
probably benign |
0.01 |
R5946:Myh7b
|
UTSW |
2 |
155,463,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Myh7b
|
UTSW |
2 |
155,464,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R6103:Myh7b
|
UTSW |
2 |
155,460,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R6233:Myh7b
|
UTSW |
2 |
155,473,719 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6292:Myh7b
|
UTSW |
2 |
155,474,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R6350:Myh7b
|
UTSW |
2 |
155,470,680 (GRCm39) |
missense |
probably benign |
0.00 |
R6484:Myh7b
|
UTSW |
2 |
155,470,563 (GRCm39) |
missense |
probably benign |
0.05 |
R6760:Myh7b
|
UTSW |
2 |
155,462,038 (GRCm39) |
nonsense |
probably null |
|
R6896:Myh7b
|
UTSW |
2 |
155,464,488 (GRCm39) |
critical splice donor site |
probably null |
|
R6945:Myh7b
|
UTSW |
2 |
155,464,152 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7020:Myh7b
|
UTSW |
2 |
155,473,671 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7052:Myh7b
|
UTSW |
2 |
155,456,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Myh7b
|
UTSW |
2 |
155,464,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Myh7b
|
UTSW |
2 |
155,464,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Myh7b
|
UTSW |
2 |
155,460,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R7360:Myh7b
|
UTSW |
2 |
155,474,460 (GRCm39) |
missense |
probably benign |
0.38 |
R7652:Myh7b
|
UTSW |
2 |
155,474,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R7678:Myh7b
|
UTSW |
2 |
155,459,698 (GRCm39) |
splice site |
probably null |
|
R7703:Myh7b
|
UTSW |
2 |
155,462,356 (GRCm39) |
missense |
probably null |
1.00 |
R7711:Myh7b
|
UTSW |
2 |
155,462,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Myh7b
|
UTSW |
2 |
155,467,886 (GRCm39) |
missense |
probably benign |
|
R7967:Myh7b
|
UTSW |
2 |
155,456,119 (GRCm39) |
splice site |
probably null |
|
R8045:Myh7b
|
UTSW |
2 |
155,455,101 (GRCm39) |
missense |
probably benign |
0.00 |
R8176:Myh7b
|
UTSW |
2 |
155,467,886 (GRCm39) |
missense |
probably benign |
0.06 |
R8272:Myh7b
|
UTSW |
2 |
155,474,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Myh7b
|
UTSW |
2 |
155,465,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8706:Myh7b
|
UTSW |
2 |
155,453,669 (GRCm39) |
critical splice donor site |
probably null |
|
R8824:Myh7b
|
UTSW |
2 |
155,472,301 (GRCm39) |
missense |
probably benign |
0.02 |
R8832:Myh7b
|
UTSW |
2 |
155,475,182 (GRCm39) |
missense |
probably benign |
0.00 |
R9079:Myh7b
|
UTSW |
2 |
155,465,174 (GRCm39) |
missense |
probably damaging |
0.97 |
R9151:Myh7b
|
UTSW |
2 |
155,474,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R9311:Myh7b
|
UTSW |
2 |
155,463,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Myh7b
|
UTSW |
2 |
155,470,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R9357:Myh7b
|
UTSW |
2 |
155,463,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R9388:Myh7b
|
UTSW |
2 |
155,472,983 (GRCm39) |
missense |
probably benign |
0.28 |
R9583:Myh7b
|
UTSW |
2 |
155,459,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Myh7b
|
UTSW |
2 |
155,455,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R9738:Myh7b
|
UTSW |
2 |
155,455,963 (GRCm39) |
missense |
probably damaging |
1.00 |
X0013:Myh7b
|
UTSW |
2 |
155,473,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGAGTGAGCTGCAAGCTGCACTG -3'
(R):5'- TCAAGGACCCACAGACTTGGGAAC -3'
Sequencing Primer
(F):5'- TGCACTGGAGGAGGCTG -3'
(R):5'- AAGACTGCTTTCCAGAGACC -3'
|
Posted On |
2014-04-13 |