Incidental Mutation 'IGL01365:Mios'
| ID |
75909 |
| 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: 0.951)
|
| Stock # |
IGL01365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
8209222-8236274 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 8216089 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 428
(Y428*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
| AlphaFold |
Q8VE19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040017
AA Change: Y428*
|
| SMART Domains |
Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: Y428*
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,633,816 (GRCm38) |
V867A |
possibly damaging |
Het |
| Adgre5 |
G |
T |
8: 83,723,889 (GRCm38) |
|
probably null |
Het |
| Agtr1a |
A |
G |
13: 30,381,828 (GRCm38) |
Y292C |
probably damaging |
Het |
| CK137956 |
A |
G |
4: 127,951,342 (GRCm38) |
S203P |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,576 (GRCm38) |
G390D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 105,005,030 (GRCm38) |
T513A |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,313,913 (GRCm38) |
K67R |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,593,523 (GRCm38) |
K486E |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,904,984 (GRCm38) |
Q151K |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,790,907 (GRCm38) |
L223Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 66,287,701 (GRCm38) |
I901T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,391,169 (GRCm38) |
Y3624C |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,152,502 (GRCm38) |
I154T |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,615,997 (GRCm38) |
Y216C |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,947,954 (GRCm38) |
T168I |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,491,413 (GRCm38) |
|
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,705,801 (GRCm38) |
W140R |
probably damaging |
Het |
| Sec14l2 |
G |
T |
11: 4,098,317 (GRCm38) |
D400E |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,157,906 (GRCm38) |
Y175N |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,892,097 (GRCm38) |
|
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,315,376 (GRCm38) |
V223A |
probably damaging |
Het |
| Srsf1 |
G |
T |
11: 88,049,181 (GRCm38) |
R173L |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,100,878 (GRCm38) |
|
probably null |
Het |
| Tead2 |
T |
A |
7: 45,217,251 (GRCm38) |
D11E |
probably damaging |
Het |
| Trappc12 |
T |
A |
12: 28,747,402 (GRCm38) |
I44F |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 153,000,134 (GRCm38) |
Y303H |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,265,191 (GRCm38) |
N6K |
possibly damaging |
Het |
|
| Other mutations in Mios |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Mios
|
APN |
6 |
8,234,363 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01548:Mios
|
APN |
6 |
8,234,252 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01898:Mios
|
APN |
6 |
8,222,668 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02110:Mios
|
APN |
6 |
8,215,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02308:Mios
|
APN |
6 |
8,231,269 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02375:Mios
|
APN |
6 |
8,222,598 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02452:Mios
|
APN |
6 |
8,222,492 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02670:Mios
|
APN |
6 |
8,235,378 (GRCm38) |
splice site |
probably benign |
|
|
IGL03083:Mios
|
APN |
6 |
8,215,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0462:Mios
|
UTSW |
6 |
8,215,743 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0591:Mios
|
UTSW |
6 |
8,215,470 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1351:Mios
|
UTSW |
6 |
8,228,120 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1476:Mios
|
UTSW |
6 |
8,234,237 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1802:Mios
|
UTSW |
6 |
8,216,385 (GRCm38) |
nonsense |
probably null |
|
|
R1959:Mios
|
UTSW |
6 |
8,215,437 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1964:Mios
|
UTSW |
6 |
8,215,798 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2272:Mios
|
UTSW |
6 |
8,226,865 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2915:Mios
|
UTSW |
6 |
8,214,935 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3852:Mios
|
UTSW |
6 |
8,216,453 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3876:Mios
|
UTSW |
6 |
8,233,189 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3948:Mios
|
UTSW |
6 |
8,215,496 (GRCm38) |
missense |
probably benign |
|
|
R4698:Mios
|
UTSW |
6 |
8,228,113 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4785:Mios
|
UTSW |
6 |
8,222,464 (GRCm38) |
missense |
probably benign |
|
|
R4789:Mios
|
UTSW |
6 |
8,235,429 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4866:Mios
|
UTSW |
6 |
8,214,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4878:Mios
|
UTSW |
6 |
8,215,094 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4991:Mios
|
UTSW |
6 |
8,215,847 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5479:Mios
|
UTSW |
6 |
8,215,314 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5714:Mios
|
UTSW |
6 |
8,215,434 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6030:Mios
|
UTSW |
6 |
8,215,704 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6030:Mios
|
UTSW |
6 |
8,215,704 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6111:Mios
|
UTSW |
6 |
8,214,836 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6455:Mios
|
UTSW |
6 |
8,231,239 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7381:Mios
|
UTSW |
6 |
8,216,064 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8350:Mios
|
UTSW |
6 |
8,227,998 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8708:Mios
|
UTSW |
6 |
8,234,255 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8913:Mios
|
UTSW |
6 |
8,215,924 (GRCm38) |
missense |
probably benign |
|
|
R9062:Mios
|
UTSW |
6 |
8,233,221 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9359:Mios
|
UTSW |
6 |
8,214,894 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9521:Mios
|
UTSW |
6 |
8,233,171 (GRCm38) |
missense |
probably benign |
0.45 |
|
| Posted On |
2013-10-07 |
Incidental Mutation