Incidental Mutation 'IGL03083:Mios'
ID |
417946 |
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 # |
IGL03083
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8215156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 117
(N117K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
AlphaFold |
Q8VE19 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040017
AA Change: N117K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039301 Gene: ENSMUSG00000042447 AA Change: N117K
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,333,166 (GRCm39) |
L106P |
probably benign |
Het |
Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
Galnt7 |
A |
T |
8: 57,979,223 (GRCm39) |
H633Q |
probably damaging |
Het |
Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
Nfxl1 |
C |
T |
5: 72,698,005 (GRCm39) |
|
probably benign |
Het |
Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
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 |
IGL02308:Mios
|
APN |
6 |
8,231,269 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
|
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 |
2016-08-02 |