Incidental Mutation 'R5714:Mios'
| ID |
451042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mios
|
| Ensembl Gene |
ENSMUSG00000042447 |
| Gene Name |
meiosis regulator for oocyte development |
| Synonyms |
|
| MMRRC Submission |
043186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R5714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
8209222-8236274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8215434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 210
(I210K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040017]
|
| AlphaFold |
Q8VE19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040017
AA Change: I210K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: I210K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
| Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
| Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
| Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
| Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
| Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
| Garre1 |
G |
A |
7: 33,939,941 (GRCm39) |
Q717* |
probably null |
Het |
| Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
| Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
| Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
| Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
| Rars2 |
T |
A |
4: 34,645,779 (GRCm39) |
M232K |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
| Slc27a6 |
A |
T |
18: 58,731,625 (GRCm39) |
E325V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Srd5a3 |
T |
A |
5: 76,301,413 (GRCm39) |
F214Y |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
| Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
| Zfp457 |
C |
A |
13: 67,444,490 (GRCm39) |
M4I |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
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 |
|
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'- ACTCCTGATATTGTTCCCATGG -3'
(R):5'- AAGTAGCAAGCAGGCCTGTC -3'
Sequencing Primer
(F):5'- TTGTTCCCATGGAAAAAGTGAGAC -3'
(R):5'- GTTGGACACCATGCGACCTTTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation