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: 0.159)
|
| Stock # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84880148-84911226 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84910471 bp (GRCm38)
|
| 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: 3,915,329 (GRCm38) |
H394L |
probably damaging |
Het |
| B430306N03Rik |
G |
A |
17: 48,316,868 (GRCm38) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 113,332,670 (GRCm38) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,817,594 (GRCm38) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 96,039,611 (GRCm38) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,617,602 (GRCm38) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,298,734 (GRCm38) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,349,471 (GRCm38) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 87,300,735 (GRCm38) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,948,811 (GRCm38) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,905,306 (GRCm38) |
V12A |
probably benign |
Het |
| Lrrc4 |
A |
T |
6: 28,831,470 (GRCm38) |
C49S |
probably damaging |
Het |
| Lrrc49 |
T |
A |
9: 60,687,845 (GRCm38) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,350,242 (GRCm38) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,283,818 (GRCm38) |
I253T |
probably damaging |
Het |
| Nhs |
T |
A |
X: 161,841,906 (GRCm38) |
I837F |
probably damaging |
Het |
| Olfr1450 |
T |
C |
19: 12,953,904 (GRCm38) |
V105A |
probably benign |
Het |
| Olfr1467 |
G |
T |
19: 13,365,281 (GRCm38) |
V218L |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,430,074 (GRCm38) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,379,419 (GRCm38) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,148,636 (GRCm38) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm38) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,216,450 (GRCm38) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,376,655 (GRCm38) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,229,391 (GRCm38) |
G189D |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 30,038,433 (GRCm38) |
Y376H |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 32,977,274 (GRCm38) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,567,311 (GRCm38) |
E35G |
possibly damaging |
Het |
|
| Other mutations in Myo19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00896:Myo19
|
APN |
11 |
84,909,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01120:Myo19
|
APN |
11 |
84,907,278 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01542:Myo19
|
APN |
11 |
84,909,546 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02341:Myo19
|
APN |
11 |
84,888,045 (GRCm38) |
splice site |
probably benign |
|
|
IGL02708:Myo19
|
APN |
11 |
84,899,396 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
BB004:Myo19
|
UTSW |
11 |
84,900,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB014:Myo19
|
UTSW |
11 |
84,900,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0009:Myo19
|
UTSW |
11 |
84,888,169 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0125:Myo19
|
UTSW |
11 |
84,888,175 (GRCm38) |
splice site |
probably benign |
|
|
R0142:Myo19
|
UTSW |
11 |
84,894,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Myo19
|
UTSW |
11 |
84,897,732 (GRCm38) |
splice site |
probably benign |
|
|
R0230:Myo19
|
UTSW |
11 |
84,893,333 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0482:Myo19
|
UTSW |
11 |
84,909,419 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1981:Myo19
|
UTSW |
11 |
84,892,170 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R2035:Myo19
|
UTSW |
11 |
84,897,608 (GRCm38) |
missense |
probably benign |
|
|
R2185:Myo19
|
UTSW |
11 |
84,892,221 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3176:Myo19
|
UTSW |
11 |
84,892,175 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3276:Myo19
|
UTSW |
11 |
84,892,175 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3824:Myo19
|
UTSW |
11 |
84,885,679 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3914:Myo19
|
UTSW |
11 |
84,894,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4333:Myo19
|
UTSW |
11 |
84,908,288 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4335:Myo19
|
UTSW |
11 |
84,908,288 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4647:Myo19
|
UTSW |
11 |
84,894,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4968:Myo19
|
UTSW |
11 |
84,901,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Myo19
|
UTSW |
11 |
84,892,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5083:Myo19
|
UTSW |
11 |
84,903,211 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R5284:Myo19
|
UTSW |
11 |
84,885,272 (GRCm38) |
splice site |
probably null |
|
|
R5558:Myo19
|
UTSW |
11 |
84,910,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5739:Myo19
|
UTSW |
11 |
84,897,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5982:Myo19
|
UTSW |
11 |
84,899,400 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6093:Myo19
|
UTSW |
11 |
84,885,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6444:Myo19
|
UTSW |
11 |
84,895,308 (GRCm38) |
missense |
probably benign |
|
|
R6657:Myo19
|
UTSW |
11 |
84,897,196 (GRCm38) |
missense |
probably benign |
|
|
R6945:Myo19
|
UTSW |
11 |
84,897,560 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7022:Myo19
|
UTSW |
11 |
84,900,547 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7058:Myo19
|
UTSW |
11 |
84,907,368 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7150:Myo19
|
UTSW |
11 |
84,905,613 (GRCm38) |
missense |
probably benign |
|
|
R7155:Myo19
|
UTSW |
11 |
84,900,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7478:Myo19
|
UTSW |
11 |
84,885,800 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7486:Myo19
|
UTSW |
11 |
84,905,637 (GRCm38) |
missense |
probably benign |
|
|
R7833:Myo19
|
UTSW |
11 |
84,909,267 (GRCm38) |
missense |
probably benign |
|
|
R7921:Myo19
|
UTSW |
11 |
84,908,238 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R7923:Myo19
|
UTSW |
11 |
84,885,710 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7927:Myo19
|
UTSW |
11 |
84,900,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9105:Myo19
|
UTSW |
11 |
84,903,203 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9714:Myo19
|
UTSW |
11 |
84,882,716 (GRCm38) |
start codon destroyed |
probably null |
0.18 |
|
X0053:Myo19
|
UTSW |
11 |
84,897,715 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Myo19
|
UTSW |
11 |
84,909,350 (GRCm38) |
frame shift |
probably null |
|
|
Z1176:Myo19
|
UTSW |
11 |
84,885,278 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation