Incidental Mutation 'IGL03223:Myo19'
| ID |
413713 |
| 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: 0.144)
|
| Stock # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84801297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 948
(T948A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
[ENSMUST00000103195]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093969
AA Change: T948A
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: T948A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156046
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3b1 |
T |
A |
19: 3,965,329 (GRCm39) |
H394L |
probably damaging |
Het |
| B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Lrrc4 |
A |
T |
6: 28,831,469 (GRCm39) |
C49S |
probably damaging |
Het |
| Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,624,902 (GRCm39) |
I837F |
probably damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,858 (GRCm39) |
Y376H |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,248 (GRCm39) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation