Incidental Mutation 'R9704:Meig1'
| ID |
729696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meig1
|
| Ensembl Gene |
ENSMUSG00000026650 |
| Gene Name |
meiosis expressed gene 1 |
| Synonyms |
Meg1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R9704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
3410080-3423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3410336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 55
(Y55H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070310
(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: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115081
AA Change: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
86 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115082
AA Change: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115083
AA Change: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115084
AA Change: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144584
AA Change: Y55H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123118
Gene: ENSMUSG00000026650
AA Change: Y55H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
65 |
6.1e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
| Aass |
C |
A |
6: 23,120,887 (GRCm39) |
V126F |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,895,237 (GRCm39) |
Q1109H |
|
Het |
| Ccdc57 |
A |
C |
11: 120,764,531 (GRCm39) |
V748G |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,827,387 (GRCm39) |
S31P |
possibly damaging |
Het |
| Dnah5 |
C |
G |
15: 28,247,965 (GRCm39) |
P701A |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,440,130 (GRCm39) |
T642A |
probably damaging |
Het |
| Fam149a |
G |
A |
8: 45,795,502 (GRCm39) |
R670W |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,579 (GRCm39) |
D646G |
probably benign |
Het |
| Gabrr2 |
G |
A |
4: 33,063,305 (GRCm39) |
V43M |
possibly damaging |
Het |
| Gli3 |
T |
A |
13: 15,898,058 (GRCm39) |
C713S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,160,253 (GRCm39) |
|
probably null |
Het |
| Ighv2-9 |
T |
A |
12: 113,842,746 (GRCm39) |
D107V |
possibly damaging |
Het |
| Jak2 |
C |
A |
19: 29,275,730 (GRCm39) |
C723* |
probably null |
Het |
| Lcor |
T |
C |
19: 41,572,498 (GRCm39) |
S418P |
possibly damaging |
Het |
| Lnx1 |
A |
T |
5: 74,780,879 (GRCm39) |
V214E |
probably benign |
Het |
| Luzp1 |
T |
A |
4: 136,268,604 (GRCm39) |
S276T |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,071,617 (GRCm39) |
Q478L |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nxph2 |
T |
C |
2: 23,289,723 (GRCm39) |
V25A |
probably benign |
Het |
| Onecut1 |
G |
A |
9: 74,770,258 (GRCm39) |
G227D |
probably benign |
Het |
| Phf2 |
G |
T |
13: 48,959,374 (GRCm39) |
D877E |
unknown |
Het |
| Pik3cd |
C |
A |
4: 149,739,839 (GRCm39) |
R548L |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,993,905 (GRCm39) |
Q830* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,737,646 (GRCm39) |
Y2219C |
probably damaging |
Het |
| Spag11b |
A |
G |
8: 19,191,474 (GRCm39) |
N49S |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,743,086 (GRCm39) |
I167F |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Sv2b |
T |
G |
7: 74,797,420 (GRCm39) |
M325L |
possibly damaging |
Het |
| Tpsb2 |
A |
G |
17: 25,585,834 (GRCm39) |
I57M |
probably benign |
Het |
| Ttf2 |
T |
C |
3: 100,859,920 (GRCm39) |
E678G |
probably damaging |
Het |
| Ulk2 |
A |
G |
11: 61,716,694 (GRCm39) |
F270S |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,237,102 (GRCm39) |
V603I |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATTCAAGGTTTCAAGGTGGG -3'
(R):5'- TGTGTTACGCGTGTACTCC -3'
Sequencing Primer
(F):5'- TGTAAGACACCATGAATTAAAGACAG -3'
(R):5'- GTGTACTCCACGCTCCAAGAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation