Incidental Mutation 'IGL00666:M1ap'
ID |
10038 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
M1ap
|
Ensembl Gene |
ENSMUSG00000030041 |
Gene Name |
meiosis 1 associated protein |
Synonyms |
D6Mm5e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL00666
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
82923889-83007290 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 82933646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 67
(Y67D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113980]
|
AlphaFold |
Q9Z0E1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113980
AA Change: Y67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109613 Gene: ENSMUSG00000030041 AA Change: Y67D
Domain | Start | End | E-Value | Type |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
low complexity region
|
446 |
457 |
N/A |
INTRINSIC |
low complexity region
|
482 |
500 |
N/A |
INTRINSIC |
low complexity region
|
504 |
512 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203190
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility with oligospermia, globozooaspermiam decreased testies weight and size, degeneration of seminiferous tubules, male germ cell apoptosis and arrested male meiosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 8 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,465,080 (GRCm39) |
V640A |
possibly damaging |
Het |
Csmd1 |
G |
T |
8: 16,240,004 (GRCm39) |
T1136K |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,425,331 (GRCm39) |
S590R |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,900,945 (GRCm39) |
I882K |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,554,699 (GRCm39) |
R2140H |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,327,056 (GRCm39) |
S68G |
possibly damaging |
Het |
Robo2 |
T |
A |
16: 73,758,588 (GRCm39) |
T732S |
probably benign |
Het |
Tmem161b |
A |
G |
13: 84,442,715 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in M1ap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01511:M1ap
|
APN |
6 |
83,005,393 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01803:M1ap
|
APN |
6 |
82,982,565 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02243:M1ap
|
APN |
6 |
83,003,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:M1ap
|
UTSW |
6 |
82,982,491 (GRCm39) |
nonsense |
probably null |
|
R2073:M1ap
|
UTSW |
6 |
82,958,863 (GRCm39) |
missense |
probably benign |
0.05 |
R2074:M1ap
|
UTSW |
6 |
82,958,863 (GRCm39) |
missense |
probably benign |
0.05 |
R2355:M1ap
|
UTSW |
6 |
82,933,484 (GRCm39) |
missense |
probably benign |
0.00 |
R4063:M1ap
|
UTSW |
6 |
82,980,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:M1ap
|
UTSW |
6 |
83,005,339 (GRCm39) |
unclassified |
probably benign |
|
R5029:M1ap
|
UTSW |
6 |
82,980,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R5564:M1ap
|
UTSW |
6 |
82,958,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5740:M1ap
|
UTSW |
6 |
82,958,903 (GRCm39) |
missense |
probably damaging |
0.96 |
R5821:M1ap
|
UTSW |
6 |
82,945,083 (GRCm39) |
missense |
probably benign |
0.11 |
R5860:M1ap
|
UTSW |
6 |
82,980,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:M1ap
|
UTSW |
6 |
82,980,877 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6773:M1ap
|
UTSW |
6 |
82,945,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:M1ap
|
UTSW |
6 |
82,958,930 (GRCm39) |
missense |
probably benign |
0.38 |
R7736:M1ap
|
UTSW |
6 |
82,982,565 (GRCm39) |
missense |
probably benign |
0.00 |
R9684:M1ap
|
UTSW |
6 |
82,945,094 (GRCm39) |
missense |
probably benign |
0.28 |
Z1176:M1ap
|
UTSW |
6 |
82,945,023 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |