Incidental Mutation 'IGL00955:Meig1'
| ID |
26959 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meig1
|
| Ensembl Gene |
ENSMUSG00000026650 |
| Gene Name |
meiosis expressed gene 1 |
| Synonyms |
Meg1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL00955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3410080-3423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3410311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 63
(D63G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064685]
[ENSMUST00000115081]
[ENSMUST00000115082]
[ENSMUST00000115083]
[ENSMUST00000115084]
[ENSMUST00000144584]
|
| AlphaFold |
Q61845 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064685
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115081
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
86 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115082
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115083
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115084
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144584
AA Change: D63G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123118
Gene: ENSMUSG00000026650
AA Change: D63G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
65 |
6.1e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.2459 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl11 |
A |
T |
14: 61,548,691 (GRCm39) |
Q167L |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,777,202 (GRCm39) |
V175E |
probably damaging |
Het |
| Cherp |
C |
T |
8: 73,224,038 (GRCm39) |
E140K |
probably damaging |
Het |
| Clpx |
A |
T |
9: 65,231,552 (GRCm39) |
T546S |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,225 (GRCm39) |
L31P |
probably damaging |
Het |
| Cxcr1 |
A |
T |
1: 74,231,379 (GRCm39) |
F214L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,829 (GRCm39) |
T123S |
possibly damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dzank1 |
G |
A |
2: 144,332,094 (GRCm39) |
T414I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,454,156 (GRCm39) |
I641V |
probably benign |
Het |
| Gtf2e1 |
A |
T |
16: 37,356,282 (GRCm39) |
D83E |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,922,410 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,529,964 (GRCm39) |
D372G |
probably damaging |
Het |
| Kcnk2 |
A |
T |
1: 188,975,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,668 (GRCm39) |
D213G |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,756,418 (GRCm39) |
T323A |
possibly damaging |
Het |
| Lilra6 |
C |
A |
7: 3,914,403 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,879,192 (GRCm39) |
Y184C |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,829,526 (GRCm39) |
L91* |
probably null |
Het |
| Mup11 |
C |
T |
4: 60,615,549 (GRCm39) |
R175H |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,912,893 (GRCm39) |
K965E |
possibly damaging |
Het |
| Or52ab7 |
C |
A |
7: 102,978,528 (GRCm39) |
H278Q |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,305,710 (GRCm39) |
E252K |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,812,860 (GRCm39) |
L278Q |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,125 (GRCm39) |
I638F |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,298,577 (GRCm39) |
|
probably null |
Het |
| Taar9 |
T |
C |
10: 23,985,429 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d8b |
T |
C |
X: 138,626,629 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Meig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Meig1
|
APN |
2 |
3,410,245 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02329:Meig1
|
APN |
2 |
3,410,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02730:Meig1
|
APN |
2 |
3,412,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Meig1
|
UTSW |
2 |
3,410,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Meig1
|
UTSW |
2 |
3,410,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Meig1
|
UTSW |
2 |
3,410,290 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4387:Meig1
|
UTSW |
2 |
3,410,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Meig1
|
UTSW |
2 |
3,410,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4814:Meig1
|
UTSW |
2 |
3,412,959 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5145:Meig1
|
UTSW |
2 |
3,410,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5694:Meig1
|
UTSW |
2 |
3,412,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7843:Meig1
|
UTSW |
2 |
3,410,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Meig1
|
UTSW |
2 |
3,412,911 (GRCm39) |
nonsense |
probably null |
|
|
R8061:Meig1
|
UTSW |
2 |
3,410,240 (GRCm39) |
missense |
not run |
|
|
R9704:Meig1
|
UTSW |
2 |
3,410,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation