Incidental Mutation 'IGL00896:Myo19'
| ID |
28465 |
| 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 # |
IGL00896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84800324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 903
(V903A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
[ENSMUST00000103195]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093969
AA Change: V903A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: V903A
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,030 (GRCm39) |
T468A |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,592 (GRCm39) |
E626G |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,850,777 (GRCm39) |
Y1812C |
possibly damaging |
Het |
| Aurkc |
T |
C |
7: 7,005,513 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,093,611 (GRCm39) |
T4352A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,306,193 (GRCm39) |
V329A |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,275,275 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,857,076 (GRCm39) |
S28N |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,327,171 (GRCm39) |
|
probably benign |
Het |
| Evpl |
C |
A |
11: 116,113,410 (GRCm39) |
E1427* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,394 (GRCm39) |
N214S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,469 (GRCm39) |
H274Q |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,327,797 (GRCm39) |
V538E |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,237,539 (GRCm39) |
K308E |
probably benign |
Het |
| Mog |
T |
A |
17: 37,328,377 (GRCm39) |
|
probably null |
Het |
| Myt1l |
A |
G |
12: 29,876,885 (GRCm39) |
T179A |
unknown |
Het |
| Nckap1 |
C |
T |
2: 80,411,297 (GRCm39) |
V5M |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,167 (GRCm39) |
N286S |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,213 (GRCm39) |
D193G |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,749,047 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,838 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
C |
A |
8: 41,729,160 (GRCm39) |
Q711K |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,353,864 (GRCm39) |
D63G |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,609 (GRCm39) |
M711V |
possibly damaging |
Het |
| Rev1 |
G |
A |
1: 38,138,021 (GRCm39) |
T88I |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,665,634 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,565 (GRCm39) |
T137S |
probably benign |
Het |
| Txndc15 |
G |
A |
13: 55,873,488 (GRCm39) |
A283T |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,069 (GRCm39) |
E785G |
probably damaging |
Het |
|
| Other mutations in Myo19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation