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 |