Incidental Mutation 'R9105:Myo19'
ID |
691973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo19
|
Ensembl Gene |
ENSMUSG00000020527 |
Gene Name |
myosin XIX |
Synonyms |
Myohd1, 1110055A02Rik |
MMRRC Submission |
068917-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R9105 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84794029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 651
(I651T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
|
AlphaFold |
Q5SV80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: I651T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527 AA Change: I651T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,439,407 (GRCm39) |
K139* |
probably null |
Het |
Acsl5 |
A |
T |
19: 55,269,002 (GRCm39) |
K221I |
probably benign |
Het |
Actrt2 |
G |
A |
4: 154,751,677 (GRCm39) |
T153I |
probably damaging |
Het |
Adam34 |
C |
T |
8: 44,103,785 (GRCm39) |
C620Y |
probably damaging |
Het |
Adgrl2 |
T |
C |
3: 148,543,289 (GRCm39) |
K812E |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,529,339 (GRCm39) |
T224A |
probably benign |
Het |
Apbb2 |
G |
T |
5: 66,460,015 (GRCm39) |
S694* |
probably null |
Het |
Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
Bcl3 |
T |
A |
7: 19,543,175 (GRCm39) |
I352F |
probably damaging |
Het |
Btbd19 |
C |
T |
4: 116,977,961 (GRCm39) |
R276Q |
probably damaging |
Het |
Btnl9 |
G |
A |
11: 49,066,461 (GRCm39) |
P368S |
probably benign |
Het |
Calhm5 |
A |
G |
10: 33,968,144 (GRCm39) |
V303A |
probably benign |
Het |
Ccdc97 |
T |
C |
7: 25,412,537 (GRCm39) |
T302A |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,360,968 (GRCm39) |
D790G |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,835,561 (GRCm39) |
N45S |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,419,366 (GRCm39) |
Y1238F |
probably benign |
Het |
Ctdspl2 |
C |
T |
2: 121,837,351 (GRCm39) |
L373F |
probably damaging |
Het |
Dolpp1 |
A |
T |
2: 30,289,152 (GRCm39) |
|
probably null |
Het |
Efr3b |
A |
T |
12: 4,031,782 (GRCm39) |
L340Q |
probably damaging |
Het |
Ehd4 |
T |
C |
2: 119,932,760 (GRCm39) |
N222S |
probably damaging |
Het |
Fgf8 |
A |
C |
19: 45,730,490 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
A |
G |
2: 4,539,994 (GRCm39) |
I205V |
probably damaging |
Het |
G6pc3 |
C |
T |
11: 102,084,403 (GRCm39) |
A271V |
probably benign |
Het |
Gab1 |
T |
C |
8: 81,515,589 (GRCm39) |
D243G |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,241,942 (GRCm39) |
I205T |
probably benign |
Het |
Gtf2b |
T |
A |
3: 142,489,050 (GRCm39) |
F304Y |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Ip6k3 |
A |
G |
17: 27,364,169 (GRCm39) |
L293P |
probably damaging |
Het |
Itgb7 |
A |
G |
15: 102,135,904 (GRCm39) |
S44P |
probably damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lancl1 |
T |
A |
1: 67,043,962 (GRCm39) |
Y346F |
possibly damaging |
Het |
Lca5l |
T |
G |
16: 95,960,671 (GRCm39) |
E602A |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,573,311 (GRCm39) |
A689T |
possibly damaging |
Het |
Lrp1b |
A |
G |
2: 41,396,803 (GRCm39) |
V421A |
|
Het |
Lrrtm3 |
A |
G |
10: 63,924,336 (GRCm39) |
V277A |
possibly damaging |
Het |
Lypla1 |
T |
C |
1: 4,911,282 (GRCm39) |
L189P |
probably damaging |
Het |
Msantd3 |
A |
T |
4: 48,560,963 (GRCm39) |
N180Y |
possibly damaging |
Het |
Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
Ndst2 |
T |
C |
14: 20,780,070 (GRCm39) |
S57G |
probably benign |
Het |
Or12d16-ps1 |
C |
T |
17: 37,705,731 (GRCm39) |
T100I |
probably benign |
Het |
Or1j14 |
A |
G |
2: 36,418,294 (GRCm39) |
Y290C |
probably damaging |
Het |
Or4c117 |
C |
T |
2: 88,955,995 (GRCm39) |
V27I |
probably benign |
Het |
Or6p1 |
T |
A |
1: 174,258,861 (GRCm39) |
I289N |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
Pla2g6 |
T |
A |
15: 79,183,397 (GRCm39) |
|
probably null |
Het |
Pnrc1 |
C |
A |
4: 33,246,207 (GRCm39) |
G251* |
probably null |
Het |
Pramel14 |
A |
T |
4: 143,718,595 (GRCm39) |
|
probably benign |
Het |
Psg17 |
A |
T |
7: 18,555,333 (GRCm39) |
V3E |
probably benign |
Het |
Psmb9 |
A |
T |
17: 34,401,905 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
A |
G |
2: 164,838,114 (GRCm39) |
T982A |
probably benign |
Het |
Srrd |
T |
C |
5: 112,485,465 (GRCm39) |
D286G |
possibly damaging |
Het |
Tcp10b |
T |
C |
17: 13,285,236 (GRCm39) |
S153P |
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,854,591 (GRCm39) |
S886I |
probably benign |
Het |
Ttk |
T |
A |
9: 83,745,544 (GRCm39) |
D630E |
probably damaging |
Het |
Vnn3 |
T |
C |
10: 23,740,461 (GRCm39) |
W255R |
probably damaging |
Het |
Vps13c |
T |
G |
9: 67,778,081 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,030,512 (GRCm39) |
Q2332R |
probably benign |
Het |
Xkr8 |
A |
T |
4: 132,459,648 (GRCm39) |
Y43* |
probably null |
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 |
|
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 |
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 |
PCR Primer
(F):5'- GCTATATGAGGAGCCAGGTAC -3'
(R):5'- TCCATAGGAATGTAGGCCCTAC -3'
Sequencing Primer
(F):5'- TCGGTTTCTCATGATCCCACAGAG -3'
(R):5'- CCAGGGCAGAGATTCCACACTG -3'
|
Posted On |
2021-12-30 |