Incidental Mutation 'IGL01542:Myo19'
ID |
90182 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myo19
|
Ensembl Gene |
ENSMUSG00000020527 |
Gene Name |
myosin XIX |
Synonyms |
Myohd1, 1110055A02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
IGL01542
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84800372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 919
(L919P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
[ENSMUST00000103195]
|
AlphaFold |
Q5SV80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: L919P
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527 AA Change: L919P
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 |
probably benign
Transcript: ENSMUST00000103195
|
SMART Domains |
Protein: ENSMUSP00000099484 Gene: ENSMUSG00000020526
Domain | Start | End | E-Value | Type |
Pfam:zf-HIT
|
7 |
36 |
9.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144552
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably 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 |
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 |
R4971:Myo19
|
UTSW |
11 |
84,783,023 (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 |
|
Posted On |
2013-12-03 |