Incidental Mutation 'R6756:Meiob'
ID |
531074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meiob
|
Ensembl Gene |
ENSMUSG00000024155 |
Gene Name |
meiosis specific with OB domains |
Synonyms |
4930528F23Rik |
MMRRC Submission |
044872-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R6756 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25023275-25058762 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25058506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 470
(T470S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024972]
[ENSMUST00000164251]
|
AlphaFold |
Q9D513 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024972
AA Change: T470S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024972 Gene: ENSMUSG00000024155 AA Change: T470S
Domain | Start | End | E-Value | Type |
SCOP:d1fgua2
|
167 |
271 |
2e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164251
|
SMART Domains |
Protein: ENSMUSP00000129904 Gene: ENSMUSG00000024158
Domain | Start | End | E-Value | Type |
Lactamase_B
|
11 |
173 |
2.61e-32 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
Plekha8 |
C |
T |
6: 54,601,125 (GRCm39) |
Q288* |
probably null |
Het |
Ppp1r36 |
G |
A |
12: 76,474,696 (GRCm39) |
A64T |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Recql4 |
T |
C |
15: 76,589,059 (GRCm39) |
D943G |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
Srcin1 |
T |
C |
11: 97,425,836 (GRCm39) |
D433G |
probably damaging |
Het |
Upb1 |
A |
G |
10: 75,264,135 (GRCm39) |
T194A |
possibly damaging |
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 |
IGL01838:Meiob
|
APN |
17 |
25,042,643 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCTTTGTGGTCACTGGT -3'
(R):5'- ATTTCCCCATGTGAGAGTAGACA -3'
Sequencing Primer
(F):5'- CTTCCTTTGTGGTCACTGGTTTTCAG -3'
(R):5'- CCCATGTGAGAGTAGACAGGGTAAG -3'
|
Posted On |
2018-08-01 |