Incidental Mutation 'R7478:Myo19'
| ID |
579622 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
045552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R7478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84776626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 94
(H94L)
|
| 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: H94L
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: H94L
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: H94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: H94L
| 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 |
|
| Meta Mutation Damage Score |
0.1679 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl2 |
A |
G |
6: 29,903,266 (GRCm39) |
R516G |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,087 (GRCm39) |
F948S |
|
Het |
| Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
| Ankrd34a |
T |
C |
3: 96,505,816 (GRCm39) |
L340P |
possibly damaging |
Het |
| Arid1a |
T |
A |
4: 133,412,482 (GRCm39) |
R1186W |
unknown |
Het |
| Arpc4 |
T |
A |
6: 113,361,092 (GRCm39) |
M95K |
possibly damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,684,744 (GRCm39) |
E790G |
possibly damaging |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,624 (GRCm39) |
N103D |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,198,678 (GRCm39) |
T782A |
|
Het |
| Catsperd |
A |
G |
17: 56,971,055 (GRCm39) |
I706M |
probably benign |
Het |
| Cbx2 |
T |
C |
11: 118,919,941 (GRCm39) |
V502A |
probably damaging |
Het |
| Cd72 |
T |
G |
4: 43,454,515 (GRCm39) |
I5L |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,720,777 (GRCm39) |
Y2609C |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Efcc1 |
T |
C |
6: 87,707,972 (GRCm39) |
V33A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,177,709 (GRCm39) |
L367* |
probably null |
Het |
| Eml2 |
T |
A |
7: 18,940,066 (GRCm39) |
L627* |
probably null |
Het |
| F13b |
A |
G |
1: 139,435,433 (GRCm39) |
T193A |
probably benign |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Ifna7 |
T |
A |
4: 88,734,913 (GRCm39) |
I150N |
probably damaging |
Het |
| Man2b2 |
G |
A |
5: 36,967,657 (GRCm39) |
H904Y |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,991,156 (GRCm39) |
T389A |
possibly damaging |
Het |
| Naglu |
T |
C |
11: 100,962,725 (GRCm39) |
Y177H |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nxn |
A |
T |
11: 76,152,378 (GRCm39) |
V372E |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,984,242 (GRCm39) |
R1738C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,714,410 (GRCm39) |
E266G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,879,441 (GRCm39) |
N920S |
|
Het |
| Pkd1l3 |
C |
A |
8: 110,359,947 (GRCm39) |
T944K |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,894,168 (GRCm39) |
E133* |
probably null |
Het |
| Qser1 |
G |
A |
2: 104,619,859 (GRCm39) |
L228F |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,605 (GRCm39) |
I69T |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,506,577 (GRCm39) |
S391T |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,153,333 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
| Slfn5 |
A |
G |
11: 82,851,442 (GRCm39) |
K580E |
probably damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,377 (GRCm39) |
Y111C |
unknown |
Het |
| Tagap |
C |
A |
17: 8,152,422 (GRCm39) |
Q536K |
possibly damaging |
Het |
| Tank |
T |
C |
2: 61,480,513 (GRCm39) |
C351R |
probably damaging |
Het |
| Tarbp2 |
A |
T |
15: 102,430,169 (GRCm39) |
M144L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,951,476 (GRCm39) |
Y89H |
probably damaging |
Het |
| Tecpr2 |
C |
A |
12: 110,934,873 (GRCm39) |
T1373K |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,055,349 (GRCm39) |
P434L |
probably damaging |
Het |
| Tmed5 |
A |
G |
5: 108,272,495 (GRCm39) |
V201A |
probably benign |
Het |
| Ust |
A |
G |
10: 8,266,650 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,767 (GRCm39) |
T215A |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,251 (GRCm39) |
Q126H |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
PCR Primer
(F):5'- TCTGTATTTGAGCCAGACTTTGC -3'
(R):5'- GCTAAGGACACAATTACACCTGAAG -3'
Sequencing Primer
(F):5'- TTGAGCCAGACTTTGCTAACAGC -3'
(R):5'- GACACAATTACACCTGAAGATCCTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation