Incidental Mutation 'IGL01311:Meig1'
| ID |
73671 |
| 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 # |
IGL01311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3410080-3423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3410245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 85
(V85D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064685]
[ENSMUST00000115081]
[ENSMUST00000115082]
[ENSMUST00000115083]
[ENSMUST00000115084]
[ENSMUST00000144584]
|
| AlphaFold |
Q61845 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064685
AA Change: V85D
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: V85D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115081
AA Change: V85D
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: V85D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
86 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115082
AA Change: V85D
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: V85D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115083
AA Change: V85D
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: V85D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115084
AA Change: V85D
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: V85D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144584
|
| SMART Domains |
Protein: ENSMUSP00000123118
Gene: ENSMUSG00000026650
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
65 |
6.1e-29 |
PFAM |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
T |
7: 101,037,343 (GRCm39) |
K457* |
probably null |
Het |
| Arhgef10 |
C |
A |
8: 15,041,054 (GRCm39) |
|
probably null |
Het |
| Becn1 |
C |
T |
11: 101,182,342 (GRCm39) |
G281S |
probably damaging |
Het |
| Borcs8 |
A |
G |
8: 70,617,818 (GRCm39) |
S59G |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,731,420 (GRCm39) |
V531I |
probably benign |
Het |
| Capn5 |
C |
A |
7: 97,811,130 (GRCm39) |
R53L |
probably damaging |
Het |
| Cdk5 |
C |
T |
5: 24,624,593 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
A |
G |
4: 133,957,777 (GRCm39) |
L434P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,845,486 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,299 (GRCm39) |
D811G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,324,988 (GRCm39) |
Q224* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,690,389 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
G |
9: 27,010,019 (GRCm39) |
T296P |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,849,274 (GRCm39) |
L245P |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,305,059 (GRCm39) |
L909P |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,618,375 (GRCm39) |
D136G |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,425,502 (GRCm39) |
R1450S |
unknown |
Het |
| Ltf |
T |
C |
9: 110,860,080 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,746 (GRCm39) |
E326D |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,238 (GRCm39) |
D65V |
possibly damaging |
Het |
| Or4c100 |
T |
C |
2: 88,356,104 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,036 (GRCm39) |
Y203H |
probably damaging |
Het |
| Padi2 |
G |
A |
4: 140,644,948 (GRCm39) |
V61I |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,174 (GRCm39) |
S753G |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,591 (GRCm39) |
S314P |
probably benign |
Het |
| Serpina3i |
T |
C |
12: 104,233,946 (GRCm39) |
S305P |
probably damaging |
Het |
| Slc16a4 |
G |
T |
3: 107,199,821 (GRCm39) |
V23F |
possibly damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,348,747 (GRCm39) |
T239I |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,076,404 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,885 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,765,938 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,586,077 (GRCm39) |
E171G |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,206,356 (GRCm39) |
H4864R |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,939 (GRCm39) |
L755* |
probably null |
Het |
| Zfp292 |
C |
T |
4: 34,807,961 (GRCm39) |
M1699I |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,647,129 (GRCm39) |
D880G |
probably damaging |
Het |
|
| Other mutations in Meig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Meig1
|
APN |
2 |
3,410,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation