Incidental Mutation 'IGL01089:Mios'
ID |
51287 |
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 # |
IGL01089
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 8234363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
AlphaFold |
Q8VE19 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040017
|
SMART Domains |
Protein: ENSMUSP00000039301 Gene: ENSMUSG00000042447
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
Fam171a2 |
G |
A |
11: 102,328,674 (GRCm39) |
A695V |
possibly damaging |
Het |
Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
Lrtm2 |
C |
T |
6: 119,297,753 (GRCm39) |
R96Q |
possibly damaging |
Het |
Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
Plaa |
A |
G |
4: 94,462,284 (GRCm39) |
V531A |
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,096,419 (GRCm39) |
V926D |
possibly damaging |
Het |
Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
Ugt2b34 |
C |
T |
5: 87,054,185 (GRCm39) |
V199I |
probably benign |
Het |
Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
Het |
|
Other mutations in Mios |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-06-21 |