Incidental Mutation 'R1351:Mios'
| ID |
156649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mios
|
| Ensembl Gene |
ENSMUSG00000042447 |
| Gene Name |
meiosis regulator for oocyte development |
| Synonyms |
|
| MMRRC Submission |
039416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R1351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8228120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 679
(M679K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
| AlphaFold |
Q8VE19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040017
AA Change: M679K
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: M679K
| 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
|
| Meta Mutation Damage Score |
0.6924 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
A |
G |
3: 62,288,262 (GRCm39) |
E444G |
probably damaging |
Het |
| Astl |
G |
A |
2: 127,189,105 (GRCm39) |
V144M |
possibly damaging |
Het |
| AW146154 |
A |
T |
7: 41,129,878 (GRCm39) |
C413S |
probably damaging |
Het |
| Bicdl2 |
G |
A |
17: 23,886,519 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,610,925 (GRCm39) |
S624R |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cep126 |
C |
T |
9: 8,100,087 (GRCm39) |
E816K |
probably damaging |
Het |
| Cyp2j13 |
T |
C |
4: 95,945,155 (GRCm39) |
K291R |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,349,737 (GRCm39) |
M181K |
unknown |
Het |
| Dicer1 |
G |
A |
12: 104,695,401 (GRCm39) |
R177C |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,673,287 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ermap |
C |
T |
4: 119,038,558 (GRCm39) |
|
probably null |
Het |
| Fcamr |
C |
T |
1: 130,740,757 (GRCm39) |
T392I |
possibly damaging |
Het |
| Fgf3 |
T |
C |
7: 144,394,517 (GRCm39) |
|
probably benign |
Het |
| Gpr162 |
T |
C |
6: 124,838,161 (GRCm39) |
Y163C |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,230 (GRCm39) |
R226G |
possibly damaging |
Het |
| Hapln3 |
A |
C |
7: 78,771,708 (GRCm39) |
S60R |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,987,235 (GRCm39) |
S443P |
probably benign |
Het |
| Irf2bpl |
A |
G |
12: 86,929,398 (GRCm39) |
M425T |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,359,469 (GRCm39) |
A5S |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,244,901 (GRCm39) |
L850S |
possibly damaging |
Het |
| Mocos |
T |
C |
18: 24,793,107 (GRCm39) |
F68S |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,523 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,452,564 (GRCm39) |
D146E |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,651,627 (GRCm39) |
F32L |
probably benign |
Het |
| Pde4d |
G |
T |
13: 110,087,809 (GRCm39) |
E562D |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,518,691 (GRCm39) |
K246E |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,884,574 (GRCm39) |
|
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,162 (GRCm39) |
C324S |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,485,564 (GRCm39) |
L464F |
possibly damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,863 (GRCm39) |
H749R |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,597,863 (GRCm39) |
N218S |
possibly damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,531 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Rif1 |
T |
G |
2: 52,001,567 (GRCm39) |
Y1674D |
possibly damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,611 (GRCm39) |
H386R |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,440,210 (GRCm39) |
V752A |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,883,334 (GRCm39) |
D314G |
possibly damaging |
Het |
| Spata2l |
G |
A |
8: 123,960,072 (GRCm39) |
R406C |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,264,733 (GRCm39) |
|
probably benign |
Het |
| Tent4b |
C |
A |
8: 88,927,002 (GRCm39) |
Y137* |
probably null |
Het |
| Trpc4 |
A |
G |
3: 54,102,423 (GRCm39) |
E107G |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,230,073 (GRCm39) |
I286T |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,031,463 (GRCm39) |
T826A |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,482,683 (GRCm39) |
V1620E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,389,549 (GRCm39) |
D217A |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,016,798 (GRCm39) |
G768R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCACTTGCTGAAAAGAGGACAC -3'
(R):5'- AGCAAATGACGTGATTAGGGCCAG -3'
Sequencing Primer
(F):5'- ctgctctctcatactagcaaaac -3'
(R):5'- CGTGATTAGGGCCAGTAAGATG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation