Incidental Mutation 'R3824:Myo19'
| ID |
275294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
040885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R3824 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84776505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 54
(C54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020837]
[ENSMUST00000093969]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020837
AA Change: C54S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020837
Gene: ENSMUSG00000020527
AA Change: C54S
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
29 |
205 |
2.18e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: C54S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: C54S
| 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: ENSMUST00000123515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124475
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141705
|
| Meta Mutation Damage Score |
0.2751 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,508 (GRCm39) |
C20R |
probably benign |
Het |
| 6030468B19Rik |
A |
G |
11: 117,693,739 (GRCm39) |
K69E |
probably damaging |
Het |
| 9430015G10Rik |
T |
A |
4: 156,203,607 (GRCm39) |
|
probably null |
Het |
| A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
| Abcc3 |
T |
C |
11: 94,259,446 (GRCm39) |
|
probably null |
Het |
| Acad10 |
A |
T |
5: 121,760,881 (GRCm39) |
M941K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,253,759 (GRCm39) |
L1649P |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,061,930 (GRCm39) |
R402G |
possibly damaging |
Het |
| Atp4b |
T |
C |
8: 13,443,549 (GRCm39) |
Y43C |
probably damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,664,635 (GRCm39) |
T308S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,640,206 (GRCm39) |
A170S |
probably benign |
Het |
| Cabyr |
T |
A |
18: 12,884,747 (GRCm39) |
D411E |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,314,964 (GRCm39) |
|
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,641,313 (GRCm39) |
F19L |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,774,856 (GRCm39) |
Y218N |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,273,154 (GRCm39) |
Y630H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,419,189 (GRCm39) |
|
probably benign |
Het |
| Drg2 |
A |
G |
11: 60,350,334 (GRCm39) |
T98A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,419,884 (GRCm39) |
S1015R |
possibly damaging |
Het |
| Gjb4 |
A |
G |
4: 127,245,222 (GRCm39) |
S240P |
probably benign |
Het |
| Glmp |
G |
A |
3: 88,233,718 (GRCm39) |
V107I |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,272,147 (GRCm39) |
M2R |
possibly damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,939,061 (GRCm39) |
E27G |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,225,621 (GRCm39) |
Y645* |
probably null |
Het |
| Kat6a |
G |
T |
8: 23,352,380 (GRCm39) |
V55F |
probably damaging |
Het |
| Kat8 |
T |
A |
7: 127,523,654 (GRCm39) |
D292E |
possibly damaging |
Het |
| Myo5b |
C |
T |
18: 74,794,726 (GRCm39) |
H532Y |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,370,904 (GRCm39) |
K357E |
possibly damaging |
Het |
| Ndufaf1 |
C |
T |
2: 119,490,752 (GRCm39) |
V105M |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,620 (GRCm39) |
S260G |
possibly damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,134 (GRCm39) |
I51F |
possibly damaging |
Het |
| Or8b1b |
T |
A |
9: 38,375,822 (GRCm39) |
C162S |
probably benign |
Het |
| Or8c17 |
T |
G |
9: 38,179,814 (GRCm39) |
S2A |
probably benign |
Het |
| Or8k30 |
T |
G |
2: 86,339,367 (GRCm39) |
L188R |
possibly damaging |
Het |
| Palld |
T |
C |
8: 62,162,067 (GRCm39) |
D439G |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,828 (GRCm39) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,909 (GRCm39) |
W678R |
possibly damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,283 (GRCm39) |
|
probably null |
Het |
| Plscr3 |
G |
A |
11: 69,740,964 (GRCm39) |
V267M |
probably benign |
Het |
| Pramel24 |
A |
T |
4: 143,453,255 (GRCm39) |
H121L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,377,593 (GRCm39) |
|
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,304 (GRCm39) |
I1049T |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,186,694 (GRCm39) |
I1743F |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,116,570 (GRCm39) |
V894A |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,693,131 (GRCm39) |
T105A |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 141,921,804 (GRCm39) |
T267A |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,700,100 (GRCm39) |
Q144R |
possibly damaging |
Het |
| Sorcs3 |
T |
A |
19: 48,711,395 (GRCm39) |
D653E |
probably damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,399,548 (GRCm39) |
S926F |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,873,492 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
A |
G |
6: 142,774,751 (GRCm39) |
L276P |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,188,156 (GRCm39) |
V396A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,394,002 (GRCm39) |
T592A |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,002 (GRCm39) |
I236F |
possibly damaging |
Het |
| Tas2r107 |
A |
C |
6: 131,636,293 (GRCm39) |
I252S |
probably benign |
Het |
| Tmem259 |
T |
C |
10: 79,814,282 (GRCm39) |
N334S |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,873,278 (GRCm39) |
N200K |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,236,263 (GRCm39) |
V984I |
probably benign |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,382 (GRCm39) |
T152S |
probably benign |
Het |
| Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,607,466 (GRCm39) |
N86H |
probably damaging |
Het |
| Zfp12 |
T |
C |
5: 143,226,077 (GRCm39) |
V72A |
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 |
|
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 |
PCR Primer
(F):5'- GAATTGAGACTCCTGACCTGG -3'
(R):5'- CCAATAGGGATGGAGAGTCTGC -3'
Sequencing Primer
(F):5'- ACTCCTGACCTGGCCTGTG -3'
(R):5'- TCTGCAGGGAGGGCCTTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation