Incidental Mutation 'IGL01838:Meiob'
| ID |
155032 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meiob
|
| Ensembl Gene |
ENSMUSG00000024155 |
| Gene Name |
meiosis specific with OB domains |
| Synonyms |
4930528F23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25023275-25058762 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25042643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024972]
|
| AlphaFold |
Q9D513 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024972
AA Change: V157A
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000024972
Gene: ENSMUSG00000024155
AA Change: V157A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fgua2
|
167 |
271 |
2e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male and female infertility associated with germ cell apoptosis, reduced gonads and impaired meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Cpe |
G |
T |
8: 65,047,998 (GRCm39) |
T422K |
possibly damaging |
Het |
| Dis3l |
C |
A |
9: 64,215,581 (GRCm39) |
V888L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,397,297 (GRCm39) |
Y3909* |
probably null |
Het |
| Dnajb8 |
G |
A |
6: 88,200,033 (GRCm39) |
V190M |
possibly damaging |
Het |
| Grip2 |
A |
G |
6: 91,741,744 (GRCm39) |
V927A |
possibly damaging |
Het |
| Hyal3 |
C |
T |
9: 107,463,786 (GRCm39) |
R304C |
possibly damaging |
Het |
| Igkv8-21 |
A |
G |
6: 70,292,009 (GRCm39) |
S78P |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,100 (GRCm39) |
S356P |
probably damaging |
Het |
| Mrpl48 |
C |
T |
7: 100,201,860 (GRCm39) |
V35M |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,787,034 (GRCm39) |
Y739H |
probably damaging |
Het |
| Nfyb |
A |
G |
10: 82,586,642 (GRCm39) |
L174S |
probably benign |
Het |
| Prm2 |
T |
C |
16: 10,609,672 (GRCm39) |
|
probably benign |
Het |
| Prss50 |
T |
C |
9: 110,693,560 (GRCm39) |
L432P |
probably benign |
Het |
| Raly |
T |
A |
2: 154,701,590 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,587,649 (GRCm39) |
M1365K |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,464 (GRCm39) |
F270L |
possibly damaging |
Het |
| Spred1 |
T |
G |
2: 117,008,062 (GRCm39) |
S323A |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,910 (GRCm39) |
E761G |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,126,365 (GRCm39) |
K229* |
probably null |
Het |
| Thoc1 |
G |
A |
18: 9,993,386 (GRCm39) |
G582S |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,515,956 (GRCm39) |
T512A |
probably benign |
Het |
| Wee1 |
T |
C |
7: 109,723,744 (GRCm39) |
S220P |
probably benign |
Het |
|
| Other mutations in Meiob |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Meiob
|
APN |
17 |
25,042,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01830:Meiob
|
APN |
17 |
25,054,105 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0165:Meiob
|
UTSW |
17 |
25,054,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0605:Meiob
|
UTSW |
17 |
25,037,236 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Meiob
|
UTSW |
17 |
25,055,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Meiob
|
UTSW |
17 |
25,032,026 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1721:Meiob
|
UTSW |
17 |
25,053,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Meiob
|
UTSW |
17 |
25,042,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Meiob
|
UTSW |
17 |
25,042,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Meiob
|
UTSW |
17 |
25,037,305 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2066:Meiob
|
UTSW |
17 |
25,037,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Meiob
|
UTSW |
17 |
25,035,571 (GRCm39) |
splice site |
probably benign |
|
|
R3433:Meiob
|
UTSW |
17 |
25,035,571 (GRCm39) |
splice site |
probably benign |
|
|
R3906:Meiob
|
UTSW |
17 |
25,046,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4967:Meiob
|
UTSW |
17 |
25,037,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Meiob
|
UTSW |
17 |
25,054,025 (GRCm39) |
missense |
probably benign |
|
|
R6109:Meiob
|
UTSW |
17 |
25,031,993 (GRCm39) |
missense |
probably benign |
|
|
R6524:Meiob
|
UTSW |
17 |
25,051,491 (GRCm39) |
missense |
probably benign |
|
|
R6756:Meiob
|
UTSW |
17 |
25,058,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7167:Meiob
|
UTSW |
17 |
25,055,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8382:Meiob
|
UTSW |
17 |
25,046,913 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8440:Meiob
|
UTSW |
17 |
25,037,302 (GRCm39) |
missense |
probably benign |
|
|
R8751:Meiob
|
UTSW |
17 |
25,047,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9000:Meiob
|
UTSW |
17 |
25,047,916 (GRCm39) |
splice site |
probably benign |
|
|
R9799:Meiob
|
UTSW |
17 |
25,042,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation