Incidental Mutation 'R5145:Meig1'
| ID |
395070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meig1
|
| Ensembl Gene |
ENSMUSG00000026650 |
| Gene Name |
meiosis expressed gene 1 |
| Synonyms |
Meg1 |
| MMRRC Submission |
042729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5145 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3410080-3423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3410263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 79
(E79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110736
(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: E79G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070310
Gene: ENSMUSG00000026650
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115081
AA Change: E79G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110733
Gene: ENSMUSG00000026650
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
86 |
6.3e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115082
AA Change: E79G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110734
Gene: ENSMUSG00000026650
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115083
AA Change: E79G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110735
Gene: ENSMUSG00000026650
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meiosis_expr
|
11 |
87 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115084
AA Change: E79G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110736
Gene: ENSMUSG00000026650
AA Change: E79G
| 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 |
|
| Meta Mutation Damage Score |
0.0952 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
| Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
| Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
| Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
| Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGATCCTAAGGTTCTCAG -3'
(R):5'- CAAATTGTCAGACGGTGAAACG -3'
Sequencing Primer
(F):5'- CTGGACAATTCAAGGTTTCAAGGTG -3'
(R):5'- CGTGACGTAAAATCATACTAGCGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation