Incidental Mutation 'R4335:Myo19'
ID |
323744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo19
|
Ensembl Gene |
ENSMUSG00000020527 |
Gene Name |
myosin XIX |
Synonyms |
Myohd1, 1110055A02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R4335 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84799114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 816
(A816T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
[ENSMUST00000103195]
|
AlphaFold |
Q5SV80 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093969
AA Change: A816T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527 AA Change: A816T
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 |
probably benign
Transcript: ENSMUST00000103195
|
SMART Domains |
Protein: ENSMUSP00000099484 Gene: ENSMUSG00000020526
Domain | Start | End | E-Value | Type |
Pfam:zf-HIT
|
7 |
36 |
9.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127838
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141173
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144552
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
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 |
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'- CAGGAATGACTTTGTACTGACAG -3'
(R):5'- CTGAACTAGACAGACAGGCTC -3'
Sequencing Primer
(F):5'- ACTGACAGAGTGTATCCCTGG -3'
(R):5'- AAACTGAAGCGCCTTGGC -3'
|
Posted On |
2015-06-24 |