Incidental Mutation 'R9359:Mios'
| ID |
708573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mios
|
| Ensembl Gene |
ENSMUSG00000042447 |
| Gene Name |
meiosis regulator for oocyte development |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R9359 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8214894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 30
(V30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
| AlphaFold |
Q8VE19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040017
AA Change: V30E
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: V30E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,537,172 (GRCm39) |
N60K |
probably damaging |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,048 (GRCm39) |
T245I |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,170 (GRCm39) |
D277G |
probably damaging |
Het |
| Def8 |
A |
T |
8: 124,185,105 (GRCm39) |
I310F |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,605 (GRCm39) |
T790A |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
| Insr |
G |
C |
8: 3,208,717 (GRCm39) |
P1248R |
probably damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,840,663 (GRCm39) |
D349N |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
| Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
| Mex3d |
A |
T |
10: 80,217,581 (GRCm39) |
N545K |
|
Het |
| Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
| Naxd |
A |
G |
8: 11,562,968 (GRCm39) |
K303E |
possibly damaging |
Het |
| Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
| Or5a21 |
T |
A |
19: 12,310,803 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or9q2 |
C |
T |
19: 13,772,200 (GRCm39) |
M258I |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
| Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
| Ptpdc1 |
T |
A |
13: 48,740,030 (GRCm39) |
E467V |
probably benign |
Het |
| Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
| Rfx4 |
A |
G |
10: 84,740,921 (GRCm39) |
T680A |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,949,970 (GRCm39) |
T371A |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,958 (GRCm39) |
S216G |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,887,823 (GRCm39) |
V328A |
possibly damaging |
Het |
| Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
| Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Uspl1 |
G |
A |
5: 149,146,481 (GRCm39) |
V411M |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
| Vps54 |
A |
G |
11: 21,242,108 (GRCm39) |
T408A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
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 |
|
R9521:Mios
|
UTSW |
6 |
8,233,171 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTTGAAACTGTAGGGTGAGAG -3'
(R):5'- CGACCATTTGCTTGTCCAACTG -3'
Sequencing Primer
(F):5'- CTGTAGGGTGAGAGAAAAATACAATC -3'
(R):5'- TGTCCAACTGCTAGGAGACATTCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation