Incidental Mutation 'R6444:Myo19'
| ID |
519136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R6444 (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 G
at 84786134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 254
(H254R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020837]
[ENSMUST00000093969]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020837
|
| SMART Domains |
Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093969
AA Change: H254R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: H254R
| 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
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- ACAGAGGCGTTCCTTTTCC -3'
(R):5'- AATGGAGCATGGCCTCTCTG -3'
Sequencing Primer
(F):5'- AGAGGCGTTCCTTTTCCCCATG -3'
(R):5'- TGGTCACCTCGAAACAATCCTCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation