Incidental Mutation 'IGL02341:Myo19'
ID |
289115 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myo19
|
Ensembl Gene |
ENSMUSG00000020527 |
Gene Name |
myosin XIX |
Synonyms |
Myohd1, 1110055A02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
IGL02341
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
84770996-84802052 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 84778871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000091502 Gene: ENSMUSG00000020527
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
C |
T |
15: 96,270,066 (GRCm39) |
S1393L |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,346 (GRCm39) |
I548N |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,467,290 (GRCm39) |
L405Q |
possibly damaging |
Het |
Cacna1g |
T |
G |
11: 94,352,978 (GRCm39) |
Q349P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,213,978 (GRCm39) |
T184A |
possibly damaging |
Het |
Ccdc63 |
A |
G |
5: 122,251,261 (GRCm39) |
I383T |
probably benign |
Het |
Ccnk |
A |
G |
12: 108,161,989 (GRCm39) |
E298G |
unknown |
Het |
Ccnt1 |
T |
C |
15: 98,444,664 (GRCm39) |
E223G |
possibly damaging |
Het |
Clcc1 |
T |
A |
3: 108,580,699 (GRCm39) |
L333I |
possibly damaging |
Het |
Cyp2b10 |
G |
A |
7: 25,610,667 (GRCm39) |
R59Q |
probably benign |
Het |
Cyp3a41b |
T |
A |
5: 145,510,461 (GRCm39) |
T138S |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,966,231 (GRCm39) |
I2474F |
probably damaging |
Het |
Dok1 |
T |
C |
6: 83,010,035 (GRCm39) |
T25A |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,638,987 (GRCm39) |
A479V |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,571,934 (GRCm39) |
I981F |
possibly damaging |
Het |
Gm8730 |
A |
G |
8: 103,591,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm9962 |
C |
T |
7: 57,037,042 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,600,637 (GRCm39) |
Y33F |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,120,159 (GRCm39) |
S607P |
possibly damaging |
Het |
Hlcs |
T |
A |
16: 94,031,969 (GRCm39) |
I612F |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,741,946 (GRCm39) |
S663T |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,060,802 (GRCm39) |
H100R |
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,656 (GRCm39) |
S17G |
possibly damaging |
Het |
Magi2 |
T |
A |
5: 20,671,201 (GRCm39) |
I678N |
probably damaging |
Het |
Megf11 |
G |
A |
9: 64,451,902 (GRCm39) |
G109S |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,281 (GRCm39) |
I497K |
probably damaging |
Het |
Mybpc2 |
A |
C |
7: 44,164,354 (GRCm39) |
S404A |
probably benign |
Het |
Mylip |
A |
G |
13: 45,544,752 (GRCm39) |
R59G |
probably damaging |
Het |
Mylk3 |
A |
T |
8: 86,078,601 (GRCm39) |
I501N |
probably damaging |
Het |
Nat2 |
A |
G |
8: 67,954,370 (GRCm39) |
Y160C |
possibly damaging |
Het |
Nf1 |
C |
T |
11: 79,455,752 (GRCm39) |
A2554V |
probably benign |
Het |
Niban3 |
A |
T |
8: 72,056,443 (GRCm39) |
N381I |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,786,525 (GRCm39) |
C153* |
probably null |
Het |
Nlrp5 |
C |
T |
7: 23,103,577 (GRCm39) |
R15C |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,639,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 59,026,651 (GRCm39) |
R184L |
probably benign |
Het |
Or6c202 |
T |
A |
10: 128,996,302 (GRCm39) |
I184F |
probably benign |
Het |
Or6c6c |
A |
T |
10: 129,541,358 (GRCm39) |
T204S |
probably damaging |
Het |
Or6c8 |
A |
T |
10: 128,915,330 (GRCm39) |
C167* |
probably null |
Het |
Phip |
A |
T |
9: 82,814,936 (GRCm39) |
V262D |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Reck |
T |
A |
4: 43,925,160 (GRCm39) |
D466E |
probably damaging |
Het |
Rimbp2 |
G |
T |
5: 128,878,025 (GRCm39) |
Y213* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,518,721 (GRCm39) |
T365M |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,835,314 (GRCm39) |
T120S |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,657 (GRCm39) |
T50S |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,750 (GRCm39) |
R304G |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,695,257 (GRCm39) |
S67P |
probably damaging |
Het |
Tjp1 |
G |
A |
7: 64,962,382 (GRCm39) |
T1185I |
probably damaging |
Het |
Tspan2 |
T |
A |
3: 102,672,529 (GRCm39) |
I178N |
probably damaging |
Het |
Tusc2 |
T |
A |
9: 107,442,109 (GRCm39) |
*103R |
probably null |
Het |
Uggt1 |
A |
T |
1: 36,203,600 (GRCm39) |
*47R |
probably null |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vcpip1 |
T |
A |
1: 9,795,175 (GRCm39) |
K1065N |
possibly damaging |
Het |
Zfp532 |
C |
A |
18: 65,757,849 (GRCm39) |
P594Q |
probably 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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |