Incidental Mutation 'R4971:Myo19'
ID |
384461 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo19
|
Ensembl Gene |
ENSMUSG00000020527 |
Gene Name |
myosin XIX |
Synonyms |
Myohd1, 1110055A02Rik |
MMRRC Submission |
042566-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
R4971 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84783023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 179
(M179K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020837]
[ENSMUST00000093969]
|
AlphaFold |
Q5SV80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020837
AA Change: M179K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020837 Gene: ENSMUSG00000020527 AA Change: M179K
Domain | Start | End | E-Value | Type |
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: M179K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527 AA Change: M179K
Domain | Start | End | E-Value | Type |
MYSc
|
29 |
759 |
4.07e-219 |
SMART |
IQ
|
760 |
782 |
1.74e1 |
SMART |
IQ
|
783 |
804 |
1.97e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174903
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,524,190 (GRCm39) |
F1147L |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,332,006 (GRCm39) |
S1373P |
probably damaging |
Het |
Abca9 |
A |
T |
11: 110,042,874 (GRCm39) |
S392T |
probably benign |
Het |
Abcd2 |
T |
C |
15: 91,047,313 (GRCm39) |
D580G |
probably benign |
Het |
Actl9 |
T |
A |
17: 33,652,882 (GRCm39) |
L314H |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,168 (GRCm39) |
F746L |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Cdkl3 |
T |
C |
11: 51,901,995 (GRCm39) |
V68A |
possibly damaging |
Het |
Cnot1 |
A |
G |
8: 96,448,254 (GRCm39) |
F2266S |
probably damaging |
Het |
Colq |
T |
C |
14: 31,267,034 (GRCm39) |
R159G |
probably damaging |
Het |
Ctse |
A |
T |
1: 131,592,130 (GRCm39) |
D152V |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,970,045 (GRCm39) |
M1011I |
probably benign |
Het |
Cyb5r4 |
G |
T |
9: 86,939,224 (GRCm39) |
V336L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,131,949 (GRCm39) |
H1619Q |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,818,986 (GRCm39) |
K216E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,755 (GRCm39) |
H1410L |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,446,604 (GRCm39) |
Y2388C |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,816,222 (GRCm39) |
T3985M |
probably benign |
Het |
Gak |
T |
C |
5: 108,744,672 (GRCm39) |
Y535C |
probably damaging |
Het |
Gzmc |
G |
T |
14: 56,469,826 (GRCm39) |
P158Q |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,572,607 (GRCm39) |
Y135H |
probably benign |
Het |
Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
Ing4 |
A |
T |
6: 125,020,961 (GRCm39) |
M28L |
probably benign |
Het |
Irs3 |
T |
A |
5: 137,642,754 (GRCm39) |
D228V |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,555,836 (GRCm39) |
I301N |
probably damaging |
Het |
Kif13b |
T |
A |
14: 64,995,011 (GRCm39) |
M921K |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,515,870 (GRCm39) |
S2658P |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,468,382 (GRCm39) |
|
probably null |
Het |
Map4k5 |
C |
T |
12: 69,899,493 (GRCm39) |
V53I |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,739,827 (GRCm39) |
S3694P |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,548,749 (GRCm39) |
V1038A |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,370,015 (GRCm39) |
V3185A |
possibly damaging |
Het |
Mup5 |
T |
A |
4: 61,751,297 (GRCm39) |
N117I |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,562,414 (GRCm39) |
Y902C |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,335,469 (GRCm39) |
I977K |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,081,899 (GRCm39) |
V1240A |
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,619,930 (GRCm39) |
D119G |
probably damaging |
Het |
Oga |
C |
A |
19: 45,758,485 (GRCm39) |
|
probably null |
Het |
Or4c107 |
A |
T |
2: 88,788,863 (GRCm39) |
N18Y |
probably damaging |
Het |
Pdlim2 |
A |
G |
14: 70,405,208 (GRCm39) |
V219A |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,805 (GRCm39) |
M355L |
probably benign |
Het |
Polr1g |
T |
C |
7: 19,091,487 (GRCm39) |
N207D |
probably benign |
Het |
Prdx1 |
T |
C |
4: 116,549,128 (GRCm39) |
|
probably null |
Het |
Rbfox1 |
C |
T |
16: 7,111,952 (GRCm39) |
R173C |
probably damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,427 (GRCm39) |
V125D |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,227,097 (GRCm39) |
|
probably benign |
Het |
Rhot1 |
T |
A |
11: 80,124,300 (GRCm39) |
I154K |
probably damaging |
Het |
Runx1t1 |
C |
T |
4: 13,837,978 (GRCm39) |
R129C |
probably damaging |
Het |
Setbp1 |
A |
G |
18: 78,901,382 (GRCm39) |
S762P |
probably benign |
Het |
Slc13a3 |
A |
G |
2: 165,290,619 (GRCm39) |
I67T |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,100,923 (GRCm39) |
M689K |
probably benign |
Het |
Top2a |
T |
C |
11: 98,884,667 (GRCm39) |
Y1517C |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,849 (GRCm39) |
N109K |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,797 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 102,096,838 (GRCm39) |
L320* |
probably null |
Het |
Zfp456 |
T |
C |
13: 67,514,995 (GRCm39) |
E237G |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,826,147 (GRCm39) |
E103G |
possibly damaging |
Het |
|
Other mutations in Myo19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00896:Myo19
|
APN |
11 |
84,800,324 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01120:Myo19
|
APN |
11 |
84,798,104 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01542:Myo19
|
APN |
11 |
84,800,372 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02341:Myo19
|
APN |
11 |
84,778,871 (GRCm39) |
splice site |
probably benign |
|
IGL02708:Myo19
|
APN |
11 |
84,790,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03223:Myo19
|
APN |
11 |
84,801,297 (GRCm39) |
missense |
possibly damaging |
0.57 |
BB004:Myo19
|
UTSW |
11 |
84,791,046 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Myo19
|
UTSW |
11 |
84,791,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Myo19
|
UTSW |
11 |
84,778,995 (GRCm39) |
critical splice donor site |
probably null |
|
R0125:Myo19
|
UTSW |
11 |
84,779,001 (GRCm39) |
splice site |
probably benign |
|
R0142:Myo19
|
UTSW |
11 |
84,785,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Myo19
|
UTSW |
11 |
84,788,558 (GRCm39) |
splice site |
probably benign |
|
R0230:Myo19
|
UTSW |
11 |
84,784,159 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0482:Myo19
|
UTSW |
11 |
84,800,245 (GRCm39) |
missense |
probably benign |
0.00 |
R1981:Myo19
|
UTSW |
11 |
84,782,996 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2035:Myo19
|
UTSW |
11 |
84,788,434 (GRCm39) |
missense |
probably benign |
|
R2185:Myo19
|
UTSW |
11 |
84,783,047 (GRCm39) |
missense |
probably benign |
0.00 |
R3176:Myo19
|
UTSW |
11 |
84,783,001 (GRCm39) |
missense |
probably benign |
0.01 |
R3276:Myo19
|
UTSW |
11 |
84,783,001 (GRCm39) |
missense |
probably benign |
0.01 |
R3824:Myo19
|
UTSW |
11 |
84,776,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R3914:Myo19
|
UTSW |
11 |
84,785,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4333:Myo19
|
UTSW |
11 |
84,799,114 (GRCm39) |
missense |
probably benign |
0.00 |
R4335:Myo19
|
UTSW |
11 |
84,799,114 (GRCm39) |
missense |
probably benign |
0.00 |
R4647:Myo19
|
UTSW |
11 |
84,785,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R4968:Myo19
|
UTSW |
11 |
84,792,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5083:Myo19
|
UTSW |
11 |
84,794,037 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5284:Myo19
|
UTSW |
11 |
84,776,098 (GRCm39) |
splice site |
probably null |
|
R5558:Myo19
|
UTSW |
11 |
84,801,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Myo19
|
UTSW |
11 |
84,788,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5982:Myo19
|
UTSW |
11 |
84,790,226 (GRCm39) |
missense |
probably damaging |
0.97 |
R6093:Myo19
|
UTSW |
11 |
84,776,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Myo19
|
UTSW |
11 |
84,786,134 (GRCm39) |
missense |
probably benign |
|
R6657:Myo19
|
UTSW |
11 |
84,788,022 (GRCm39) |
missense |
probably benign |
|
R6945:Myo19
|
UTSW |
11 |
84,788,386 (GRCm39) |
missense |
probably benign |
0.06 |
R7022:Myo19
|
UTSW |
11 |
84,791,373 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Myo19
|
UTSW |
11 |
84,798,194 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7150:Myo19
|
UTSW |
11 |
84,796,439 (GRCm39) |
missense |
probably benign |
|
R7155:Myo19
|
UTSW |
11 |
84,791,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Myo19
|
UTSW |
11 |
84,776,626 (GRCm39) |
missense |
probably benign |
0.41 |
R7486:Myo19
|
UTSW |
11 |
84,796,463 (GRCm39) |
missense |
probably benign |
|
R7833:Myo19
|
UTSW |
11 |
84,800,093 (GRCm39) |
missense |
probably benign |
|
R7921:Myo19
|
UTSW |
11 |
84,799,064 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7923:Myo19
|
UTSW |
11 |
84,776,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7927:Myo19
|
UTSW |
11 |
84,791,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R9105:Myo19
|
UTSW |
11 |
84,794,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R9714:Myo19
|
UTSW |
11 |
84,773,542 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
X0053:Myo19
|
UTSW |
11 |
84,788,541 (GRCm39) |
nonsense |
probably null |
|
Z1176:Myo19
|
UTSW |
11 |
84,800,176 (GRCm39) |
frame shift |
probably null |
|
Z1176:Myo19
|
UTSW |
11 |
84,776,104 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGCTGTAGTGGGCATCTC -3'
(R):5'- CAGCTCTATCTAGAAAAGGGGTTTTG -3'
Sequencing Primer
(F):5'- TGTAGTGGGCATCTCTCCCG -3'
(R):5'- TCTAGAAAAGGGGTTTTGCAGATGC -3'
|
Posted On |
2016-04-27 |