Incidental Mutation 'IGL02308:Mios'
ID |
287699 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mios
|
Ensembl Gene |
ENSMUSG00000042447 |
Gene Name |
meiosis regulator for oocyte development |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
IGL02308
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8231269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 718
(I718V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
AlphaFold |
Q8VE19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040017
AA Change: I718V
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000039301 Gene: ENSMUSG00000042447 AA Change: I718V
Domain | Start | End | E-Value | Type |
Blast:WD40
|
49 |
91 |
2e-18 |
BLAST |
WD40
|
101 |
146 |
2.05e1 |
SMART |
WD40
|
174 |
212 |
3.55e1 |
SMART |
WD40
|
214 |
252 |
2.45e2 |
SMART |
WD40
|
256 |
297 |
6.42e-1 |
SMART |
Blast:WD40
|
312 |
354 |
2e-13 |
BLAST |
Pfam:zinc_ribbon_16
|
737 |
861 |
1.3e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161134
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
Nags |
A |
G |
11: 102,039,897 (GRCm39) |
*528W |
probably null |
Het |
Nom1 |
T |
A |
5: 29,642,708 (GRCm39) |
V403D |
probably damaging |
Het |
Npffr2 |
C |
A |
5: 89,731,310 (GRCm39) |
N413K |
probably benign |
Het |
Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,001,017 (GRCm39) |
K238E |
probably damaging |
Het |
Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Top6bl |
T |
C |
19: 4,713,583 (GRCm39) |
K132E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
Other mutations in Mios |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01089:Mios
|
APN |
6 |
8,234,363 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01365:Mios
|
APN |
6 |
8,216,089 (GRCm39) |
nonsense |
probably null |
|
IGL01548:Mios
|
APN |
6 |
8,234,252 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01898:Mios
|
APN |
6 |
8,222,668 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02110:Mios
|
APN |
6 |
8,215,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Mios
|
APN |
6 |
8,222,598 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02452:Mios
|
APN |
6 |
8,222,492 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02670:Mios
|
APN |
6 |
8,235,378 (GRCm39) |
splice site |
probably benign |
|
IGL03083:Mios
|
APN |
6 |
8,215,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Mios
|
UTSW |
6 |
8,215,743 (GRCm39) |
missense |
probably benign |
0.11 |
R0591:Mios
|
UTSW |
6 |
8,215,470 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1351:Mios
|
UTSW |
6 |
8,228,120 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1476:Mios
|
UTSW |
6 |
8,234,237 (GRCm39) |
missense |
probably benign |
0.01 |
R1802:Mios
|
UTSW |
6 |
8,216,385 (GRCm39) |
nonsense |
probably null |
|
R1959:Mios
|
UTSW |
6 |
8,215,437 (GRCm39) |
missense |
probably benign |
0.17 |
R1964:Mios
|
UTSW |
6 |
8,215,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R2272:Mios
|
UTSW |
6 |
8,226,865 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2915:Mios
|
UTSW |
6 |
8,214,935 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3852:Mios
|
UTSW |
6 |
8,216,453 (GRCm39) |
missense |
probably benign |
0.09 |
R3876:Mios
|
UTSW |
6 |
8,233,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R3948:Mios
|
UTSW |
6 |
8,215,496 (GRCm39) |
missense |
probably benign |
|
R4698:Mios
|
UTSW |
6 |
8,228,113 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4785:Mios
|
UTSW |
6 |
8,222,464 (GRCm39) |
missense |
probably benign |
|
R4789:Mios
|
UTSW |
6 |
8,235,429 (GRCm39) |
missense |
probably benign |
0.06 |
R4866:Mios
|
UTSW |
6 |
8,214,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4878:Mios
|
UTSW |
6 |
8,215,094 (GRCm39) |
missense |
probably benign |
0.00 |
R4991:Mios
|
UTSW |
6 |
8,215,847 (GRCm39) |
missense |
probably benign |
0.00 |
R5479:Mios
|
UTSW |
6 |
8,215,314 (GRCm39) |
missense |
probably benign |
0.00 |
R5714:Mios
|
UTSW |
6 |
8,215,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R6030:Mios
|
UTSW |
6 |
8,215,704 (GRCm39) |
missense |
probably benign |
0.11 |
R6030:Mios
|
UTSW |
6 |
8,215,704 (GRCm39) |
missense |
probably benign |
0.11 |
R6111:Mios
|
UTSW |
6 |
8,214,836 (GRCm39) |
missense |
probably benign |
0.01 |
R6455:Mios
|
UTSW |
6 |
8,231,239 (GRCm39) |
missense |
probably benign |
0.03 |
R7381:Mios
|
UTSW |
6 |
8,216,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R8350:Mios
|
UTSW |
6 |
8,227,998 (GRCm39) |
missense |
probably benign |
0.00 |
R8708:Mios
|
UTSW |
6 |
8,234,255 (GRCm39) |
missense |
probably benign |
0.17 |
R8913:Mios
|
UTSW |
6 |
8,215,924 (GRCm39) |
missense |
probably benign |
|
R9062:Mios
|
UTSW |
6 |
8,233,221 (GRCm39) |
missense |
probably benign |
0.00 |
R9359:Mios
|
UTSW |
6 |
8,214,894 (GRCm39) |
missense |
probably benign |
0.17 |
R9521:Mios
|
UTSW |
6 |
8,233,171 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2015-04-16 |