Incidental Mutation 'IGL01716:Mei4'
| ID |
104955 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mei4
|
| Ensembl Gene |
ENSMUSG00000043289 |
| Gene Name |
meiotic double-stranded break formation protein 4 |
| Synonyms |
4930486G11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL01716
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
81745723-82088060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81772235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 16
(A16V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057067]
[ENSMUST00000189391]
[ENSMUST00000189832]
|
| AlphaFold |
Q8BRM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057067
AA Change: A16V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061341
Gene: ENSMUSG00000043289
AA Change: A16V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mei4
|
1 |
378 |
9.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189391
|
| SMART Domains |
Protein: ENSMUSP00000139589
Gene: ENSMUSG00000043289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mei4
|
1 |
280 |
2.5e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189832
AA Change: A16V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140647
Gene: ENSMUSG00000043289
AA Change: A16V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mei4
|
1 |
306 |
3.8e-112 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show meiotic defects including failure of double strand break formation and homologous synapsis. Mutant spermatocytes appear to arrest at a zygotene-like stage and undergo apoptosis while mutant ovaries show a nearly complete loss of follicles at adulthood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,395,574 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,304,307 (GRCm39) |
D741G |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,966,353 (GRCm39) |
T325A |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,378,915 (GRCm39) |
V183E |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,124,470 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,985,335 (GRCm39) |
I3852T |
probably benign |
Het |
| Exoc6 |
T |
A |
19: 37,671,412 (GRCm39) |
S801T |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,574,615 (GRCm39) |
I130M |
probably damaging |
Het |
| Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
| Kif24 |
T |
C |
4: 41,393,454 (GRCm39) |
T1140A |
probably benign |
Het |
| Limk2 |
C |
T |
11: 3,308,990 (GRCm39) |
|
probably null |
Het |
| Mag |
C |
T |
7: 30,599,812 (GRCm39) |
V576I |
probably benign |
Het |
| Ncoa7 |
A |
G |
10: 30,538,330 (GRCm39) |
I685T |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,698,277 (GRCm39) |
V256E |
probably damaging |
Het |
| Or1a1 |
C |
T |
11: 74,087,207 (GRCm39) |
R293W |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,759,679 (GRCm39) |
F34I |
probably benign |
Het |
| Or9g4b |
A |
T |
2: 85,616,487 (GRCm39) |
I211F |
probably damaging |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,791 (GRCm39) |
V588A |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,228 (GRCm39) |
S741T |
probably damaging |
Het |
| Plekha4 |
C |
A |
7: 45,183,767 (GRCm39) |
S66R |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,336,278 (GRCm39) |
N1492S |
probably benign |
Het |
| Rbfox3 |
T |
C |
11: 118,404,115 (GRCm39) |
H28R |
possibly damaging |
Het |
| Reep2 |
C |
T |
18: 34,979,302 (GRCm39) |
T209I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,017 (GRCm39) |
H450R |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,384 (GRCm39) |
D427G |
unknown |
Het |
| Tnfrsf1b |
C |
T |
4: 144,942,493 (GRCm39) |
C430Y |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,094 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
A |
C |
2: 58,680,058 (GRCm39) |
T295P |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,922,995 (GRCm39) |
V528A |
probably damaging |
Het |
| Zc3h7a |
A |
G |
16: 10,963,580 (GRCm39) |
C714R |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,208 (GRCm39) |
S260P |
possibly damaging |
Het |
| Zpbp |
A |
T |
11: 11,354,052 (GRCm39) |
S295T |
probably benign |
Het |
|
| Other mutations in Mei4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
LCD18:Mei4
|
UTSW |
9 |
82,069,012 (GRCm39) |
intron |
probably benign |
|
|
R0069:Mei4
|
UTSW |
9 |
81,907,635 (GRCm39) |
nonsense |
probably null |
|
|
R1525:Mei4
|
UTSW |
9 |
81,772,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Mei4
|
UTSW |
9 |
81,809,639 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1779:Mei4
|
UTSW |
9 |
81,809,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Mei4
|
UTSW |
9 |
81,772,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3941:Mei4
|
UTSW |
9 |
81,809,336 (GRCm39) |
missense |
probably benign |
|
|
R4687:Mei4
|
UTSW |
9 |
81,809,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Mei4
|
UTSW |
9 |
81,772,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4918:Mei4
|
UTSW |
9 |
81,772,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5785:Mei4
|
UTSW |
9 |
81,907,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Mei4
|
UTSW |
9 |
81,809,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Mei4
|
UTSW |
9 |
81,907,677 (GRCm39) |
missense |
probably benign |
|
|
R6818:Mei4
|
UTSW |
9 |
81,907,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7147:Mei4
|
UTSW |
9 |
81,809,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Mei4
|
UTSW |
9 |
81,772,292 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7509:Mei4
|
UTSW |
9 |
81,907,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Mei4
|
UTSW |
9 |
81,809,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8506:Mei4
|
UTSW |
9 |
81,861,291 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8559:Mei4
|
UTSW |
9 |
81,907,684 (GRCm39) |
missense |
probably benign |
|
|
R8678:Mei4
|
UTSW |
9 |
81,809,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Mei4
|
UTSW |
9 |
81,809,595 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation