Incidental Mutation 'IGL01803:M1ap'
| ID |
155591 |
| 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 # |
IGL01803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
82923889-83007290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82982565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 283
(I283K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113980]
|
| AlphaFold |
Q9Z0E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113980
AA Change: I283K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: I283K
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,085,541 (GRCm39) |
L532Q |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,974,732 (GRCm39) |
V2194D |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,386,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Cfap100 |
C |
A |
6: 90,392,717 (GRCm39) |
R131L |
probably benign |
Het |
| Coch |
A |
T |
12: 51,650,082 (GRCm39) |
Q357L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,282,210 (GRCm39) |
T824A |
unknown |
Het |
| Dnah9 |
T |
C |
11: 66,009,655 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,907 (GRCm39) |
V201A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,530,415 (GRCm39) |
H249L |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,838,764 (GRCm39) |
P132L |
probably benign |
Het |
| Eps8l2 |
T |
C |
7: 140,938,143 (GRCm39) |
V459A |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,192,207 (GRCm39) |
D1434G |
probably damaging |
Het |
| Fbn1 |
G |
A |
2: 125,143,645 (GRCm39) |
T2828I |
probably benign |
Het |
| Gbp9 |
C |
T |
5: 105,242,039 (GRCm39) |
D173N |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,232,884 (GRCm39) |
D256G |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,236,921 (GRCm39) |
A580T |
probably damaging |
Het |
| Hnrnpf |
T |
C |
6: 117,884,094 (GRCm39) |
|
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,902,843 (GRCm39) |
E327G |
probably benign |
Het |
| Mars2 |
A |
G |
1: 55,277,155 (GRCm39) |
S253G |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,182,000 (GRCm39) |
M1767K |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,245,926 (GRCm39) |
D16E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,629,471 (GRCm39) |
Y978N |
probably benign |
Het |
| Plekha6 |
G |
T |
1: 133,200,152 (GRCm39) |
E66* |
probably null |
Het |
| Polk |
C |
T |
13: 96,641,030 (GRCm39) |
V176M |
probably damaging |
Het |
| Pom121 |
G |
T |
5: 135,410,463 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,332,133 (GRCm39) |
D2447E |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,013,047 (GRCm39) |
M1130V |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,127 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,797,504 (GRCm39) |
M241K |
probably benign |
Het |
| Septin4 |
G |
A |
11: 87,459,075 (GRCm39) |
S483N |
probably benign |
Het |
| Ssh2 |
T |
G |
11: 77,316,156 (GRCm39) |
L259R |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,695,813 (GRCm39) |
G579W |
probably damaging |
Het |
| Vmn1r85 |
G |
T |
7: 12,818,496 (GRCm39) |
A216D |
probably damaging |
Het |
| Vmn2r83 |
C |
A |
10: 79,304,894 (GRCm39) |
H35N |
probably benign |
Het |
| Zar1l |
T |
A |
5: 150,441,569 (GRCm39) |
Y19F |
probably benign |
Het |
|
| Other mutations in M1ap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00666:M1ap
|
APN |
6 |
82,933,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:M1ap
|
APN |
6 |
83,005,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-02-04 |
Incidental Mutation