Incidental Mutation 'R5558:Myo19'
| ID |
436419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo19
|
| Ensembl Gene |
ENSMUSG00000020527 |
| Gene Name |
myosin XIX |
| Synonyms |
Myohd1, 1110055A02Rik |
| MMRRC Submission |
043115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R5558 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 84801274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 940
(P940R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093969]
[ENSMUST00000103195]
|
| AlphaFold |
Q5SV80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093969
AA Change: P940R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091502
Gene: ENSMUSG00000020527
AA Change: P940R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156046
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,192,705 (GRCm39) |
K177E |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,349,029 (GRCm39) |
T378A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,630,394 (GRCm39) |
V779A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,618,311 (GRCm39) |
Q2786* |
probably null |
Het |
| Arhgef28 |
A |
C |
13: 98,097,968 (GRCm39) |
L882R |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,775 (GRCm39) |
T447A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,863 (GRCm39) |
W222R |
probably damaging |
Het |
| Chsy3 |
T |
G |
18: 59,309,469 (GRCm39) |
S241A |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,541,749 (GRCm39) |
S345P |
possibly damaging |
Het |
| Cyp4a30b |
C |
A |
4: 115,316,063 (GRCm39) |
D291E |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,622,936 (GRCm39) |
Y419C |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,846,047 (GRCm39) |
R359C |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,063,800 (GRCm39) |
G267V |
probably benign |
Het |
| Gars1 |
T |
C |
6: 55,042,592 (GRCm39) |
S442P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,516,764 (GRCm39) |
R578Q |
probably null |
Het |
| H4c4 |
C |
A |
13: 23,765,779 (GRCm39) |
N65K |
possibly damaging |
Het |
| Ifitm6 |
T |
C |
7: 140,595,985 (GRCm39) |
I103V |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,187,731 (GRCm39) |
I241N |
possibly damaging |
Het |
| Iqce |
A |
G |
5: 140,657,560 (GRCm39) |
|
probably null |
Het |
| Khdc4 |
A |
C |
3: 88,600,403 (GRCm39) |
H164P |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,928,949 (GRCm39) |
Q1192K |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,093 (GRCm39) |
N298D |
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,283,796 (GRCm39) |
S246T |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,444,355 (GRCm39) |
G330S |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,889,900 (GRCm39) |
R164C |
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,585 (GRCm39) |
R139G |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,751 (GRCm39) |
F169L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,338,603 (GRCm39) |
D920G |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,815 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
T |
C |
4: 132,105,766 (GRCm39) |
E137G |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,411,351 (GRCm39) |
V239M |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,481 (GRCm39) |
D20V |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,872,473 (GRCm39) |
I429N |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,176,294 (GRCm39) |
Y251N |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,280,271 (GRCm39) |
F31S |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,642,003 (GRCm39) |
E932V |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,402,251 (GRCm39) |
Y250C |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,616,025 (GRCm39) |
I474T |
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,202,381 (GRCm39) |
D583V |
possibly damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,528,903 (GRCm39) |
I324T |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,577,321 (GRCm39) |
V326I |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,513,222 (GRCm39) |
T617I |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,484,495 (GRCm39) |
S442P |
possibly damaging |
Het |
| Sys1 |
G |
T |
2: 164,306,429 (GRCm39) |
A128S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmed5 |
A |
G |
5: 108,272,462 (GRCm39) |
I212T |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,432,819 (GRCm39) |
M1V |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,492 (GRCm39) |
H452R |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,395 (GRCm39) |
I30537F |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,024 (GRCm39) |
V3271A |
possibly damaging |
Het |
| Utp20 |
C |
G |
10: 88,587,329 (GRCm39) |
G2489R |
probably damaging |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,402 (GRCm39) |
S278C |
probably benign |
Het |
| Wdpcp |
G |
A |
11: 21,661,732 (GRCm39) |
A335T |
probably benign |
Het |
| Zc3h18 |
G |
T |
8: 123,113,659 (GRCm39) |
R217L |
probably damaging |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,521,161 (GRCm39) |
T210I |
possibly damaging |
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 |
|
|
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'- TCCCTGAAATCAACAAGGGG -3'
(R):5'- TGGGAATAGCTTGGCACTTG -3'
Sequencing Primer
(F):5'- AGAAGTGTTCTGATCTTCCAGC -3'
(R):5'- CACTTGCGTGTGGGATCTAATGTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation