Incidental Mutation 'R6945:Myo19'
| ID |
540850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
045059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6945 (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 84788386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 333
(T333A)
|
| 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: T333A
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: T333A
| 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 |
0.2227 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
A |
16: 20,218,759 (GRCm39) |
T208S |
probably benign |
Het |
| Acaa2 |
A |
G |
18: 74,926,380 (GRCm39) |
E112G |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,421,873 (GRCm39) |
N881S |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,717,844 (GRCm39) |
E314G |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,727,399 (GRCm39) |
E443G |
probably benign |
Het |
| Akp3 |
A |
G |
1: 87,053,353 (GRCm39) |
Y102C |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,886,526 (GRCm39) |
N618S |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,815,078 (GRCm39) |
V296A |
probably benign |
Het |
| Cacna2d3 |
G |
A |
14: 28,691,275 (GRCm39) |
|
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,364,966 (GRCm39) |
N99S |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,065,348 (GRCm39) |
Y283C |
probably damaging |
Het |
| Celf4 |
T |
A |
18: 25,629,293 (GRCm39) |
Q411L |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,647,755 (GRCm39) |
H108Q |
probably damaging |
Het |
| Col23a1 |
A |
G |
11: 51,452,720 (GRCm39) |
E225G |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,024,045 (GRCm39) |
E1902G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,229,571 (GRCm39) |
D2063G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,823,184 (GRCm39) |
I6306L |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,838 (GRCm39) |
S667P |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,139 (GRCm39) |
S92R |
probably benign |
Het |
| Gm11563 |
C |
G |
11: 99,549,298 (GRCm39) |
C152S |
unknown |
Het |
| Gm3486 |
A |
G |
14: 41,206,518 (GRCm39) |
V185A |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hyal1 |
C |
A |
9: 107,456,369 (GRCm39) |
A102E |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,421,785 (GRCm39) |
C806R |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,621,933 (GRCm39) |
V165A |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,120,861 (GRCm39) |
T2666A |
|
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,146,239 (GRCm39) |
Y351C |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,464,152 (GRCm39) |
F551S |
possibly damaging |
Het |
| Nrp2 |
A |
T |
1: 62,799,947 (GRCm39) |
N387I |
probably damaging |
Het |
| Oas2 |
T |
C |
5: 120,874,204 (GRCm39) |
D543G |
probably benign |
Het |
| Or2g25 |
A |
G |
17: 37,970,405 (GRCm39) |
I273T |
possibly damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,428 (GRCm39) |
S217P |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,942,859 (GRCm39) |
V427A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,891,356 (GRCm39) |
A247V |
probably benign |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,490 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Psat1 |
T |
A |
19: 15,894,545 (GRCm39) |
T115S |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,437 (GRCm39) |
D1077E |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,509,752 (GRCm39) |
S442P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,976 (GRCm39) |
M280T |
possibly damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,331,256 (GRCm39) |
E394D |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,922,460 (GRCm39) |
V271A |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,315 (GRCm39) |
N919K |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,896,449 (GRCm39) |
S245P |
possibly damaging |
Het |
| Slc22a15 |
T |
C |
3: 101,831,430 (GRCm39) |
E2G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,036,891 (GRCm39) |
D1134G |
possibly damaging |
Het |
| Syna |
A |
G |
5: 134,587,815 (GRCm39) |
V378A |
probably damaging |
Het |
| Tchp |
A |
G |
5: 114,847,411 (GRCm39) |
K77E |
possibly damaging |
Het |
| Tescl |
T |
C |
7: 24,032,956 (GRCm39) |
N123S |
probably benign |
Het |
| Trio |
C |
T |
15: 27,824,176 (GRCm39) |
R1443Q |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,727,665 (GRCm39) |
Y462F |
possibly damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,832 (GRCm39) |
T148A |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,824,711 (GRCm39) |
N246K |
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 |
|
R6444:Myo19
|
UTSW |
11 |
84,786,134 (GRCm39) |
missense |
probably benign |
|
|
R6657:Myo19
|
UTSW |
11 |
84,788,022 (GRCm39) |
missense |
probably benign |
|
|
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'- TTCAACAATCAGAGTCGGGTG -3'
(R):5'- TTGGTCCAACCCTACACAGG -3'
Sequencing Primer
(F):5'- ACAATCAGAGTCGGGTGGCTTG -3'
(R):5'- TACACAGGCTAAGAACCTACGGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation