Incidental Mutation 'R5479:Mios'
ID |
434208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mios
|
Ensembl Gene |
ENSMUSG00000042447 |
Gene Name |
meiosis regulator for oocyte development |
Synonyms |
|
MMRRC Submission |
043040-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R5479 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 8215314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 170
(T170I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
AlphaFold |
Q8VE19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040017
AA Change: T170I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000039301 Gene: ENSMUSG00000042447 AA Change: T170I
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 |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
G |
T |
19: 55,268,894 (GRCm39) |
C185F |
probably damaging |
Het |
Adad2 |
C |
A |
8: 120,341,654 (GRCm39) |
T185N |
possibly damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,232 (GRCm39) |
V315E |
probably damaging |
Het |
Arfrp1 |
T |
C |
2: 181,006,191 (GRCm39) |
T32A |
probably damaging |
Het |
B020004C17Rik |
T |
C |
14: 57,253,999 (GRCm39) |
S41P |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,721,743 (GRCm39) |
|
probably null |
Het |
Chd8 |
C |
T |
14: 52,452,652 (GRCm39) |
G1289D |
probably benign |
Het |
Ctrl |
A |
G |
8: 106,659,672 (GRCm39) |
F59S |
probably damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,763,243 (GRCm39) |
D356V |
probably benign |
Het |
Dgka |
T |
A |
10: 128,565,541 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,262,265 (GRCm39) |
Y2043H |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,400,244 (GRCm39) |
T88A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,489,912 (GRCm39) |
D3608G |
possibly damaging |
Het |
Fmo1 |
T |
C |
1: 162,677,793 (GRCm39) |
T108A |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
Ftcd |
A |
T |
10: 76,413,850 (GRCm39) |
M85L |
probably benign |
Het |
Ggnbp2 |
T |
C |
11: 84,745,169 (GRCm39) |
S189G |
probably benign |
Het |
Gm3629 |
C |
T |
14: 17,875,765 (GRCm39) |
R35H |
unknown |
Het |
Gnai2 |
T |
G |
9: 107,512,365 (GRCm39) |
M18L |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,476,805 (GRCm39) |
Y9C |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,732,914 (GRCm39) |
A668S |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,445,011 (GRCm39) |
M83L |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,156,075 (GRCm39) |
R227G |
probably benign |
Het |
Maz |
A |
T |
7: 126,624,860 (GRCm39) |
V197D |
possibly damaging |
Het |
Mbd5 |
T |
C |
2: 49,162,917 (GRCm39) |
V241A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,701,950 (GRCm39) |
C417Y |
probably damaging |
Het |
Myh13 |
G |
A |
11: 67,239,648 (GRCm39) |
A733T |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
Nfs1 |
G |
A |
2: 155,970,422 (GRCm39) |
T297I |
probably damaging |
Het |
Nrbf2 |
A |
G |
10: 67,120,870 (GRCm39) |
|
probably null |
Het |
Nrg1 |
T |
C |
8: 32,308,405 (GRCm39) |
Y537C |
probably damaging |
Het |
Onecut3 |
T |
A |
10: 80,349,856 (GRCm39) |
L450Q |
probably damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,035 (GRCm39) |
D302G |
probably benign |
Het |
Pard3 |
G |
A |
8: 128,096,836 (GRCm39) |
R333Q |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,861,552 (GRCm39) |
F962L |
probably benign |
Het |
Pilra |
A |
G |
5: 137,834,318 (GRCm39) |
S22P |
possibly damaging |
Het |
Piwil4 |
T |
C |
9: 14,616,337 (GRCm39) |
Y673C |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,476,181 (GRCm39) |
D1134N |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,909,453 (GRCm39) |
V681A |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,931,648 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
C |
T |
6: 23,001,665 (GRCm39) |
L1252F |
probably benign |
Het |
Sptb |
T |
C |
12: 76,646,625 (GRCm39) |
E1999G |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,780,714 (GRCm39) |
|
probably benign |
Het |
Usp25 |
T |
C |
16: 76,904,801 (GRCm39) |
V789A |
possibly damaging |
Het |
Zfp148 |
C |
A |
16: 33,317,589 (GRCm39) |
Q712K |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTCGCCAATGCAATACC -3'
(R):5'- TTCATAGAAGGAAGCAACACGATC -3'
Sequencing Primer
(F):5'- CCTTGCATGGAATCCACTGGATAG -3'
(R):5'- GAAGTAAGGGTCTACTGTCACTCC -3'
|
Posted On |
2016-10-06 |