Incidental Mutation 'R2185:Myo19'
| ID |
237836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
040187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R2185 (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 C
at 84783047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 187
(V187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020837]
[ENSMUST00000093969]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020837
AA Change: V187A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: V187A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093969
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
| Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
| Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
| Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
| Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
| Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
| Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
| Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
| Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
| Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
| Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
| Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
| Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
| Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
| Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
| Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-10-02 |
Incidental Mutation