Incidental Mutation 'IGL00772:Eme1'
| ID |
13446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eme1
|
| Ensembl Gene |
ENSMUSG00000039055 |
| Gene Name |
essential meiotic structure-specific endonuclease 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94536277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 564
(L564P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021239]
[ENSMUST00000039949]
|
| AlphaFold |
Q8BJW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021239
|
| SMART Domains |
Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
38 |
60 |
6.22e0 |
SMART |
|
LRR
|
61 |
83 |
1.33e-1 |
SMART |
|
LRR
|
84 |
106 |
3.75e0 |
SMART |
|
LRR
|
107 |
131 |
1.09e2 |
SMART |
|
coiled coil region
|
148 |
216 |
N/A |
INTRINSIC |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039949
AA Change: L564P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: L564P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
ERCC4
|
252 |
515 |
2.06e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128643
|
| Meta Mutation Damage Score |
0.8728 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
| Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
| Grk1 |
A |
G |
8: 13,455,349 (GRCm39) |
T78A |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
G |
A |
14: 65,908,011 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
| Slc48a1 |
A |
G |
15: 97,687,835 (GRCm39) |
Y63C |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
| Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
| Other mutations in Eme1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02402:Eme1
|
APN |
11 |
94,541,733 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0220:Eme1
|
UTSW |
11 |
94,541,084 (GRCm39) |
missense |
probably null |
1.00 |
|
R0594:Eme1
|
UTSW |
11 |
94,541,256 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0608:Eme1
|
UTSW |
11 |
94,540,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:Eme1
|
UTSW |
11 |
94,541,700 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0925:Eme1
|
UTSW |
11 |
94,541,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Eme1
|
UTSW |
11 |
94,536,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Eme1
|
UTSW |
11 |
94,536,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Eme1
|
UTSW |
11 |
94,536,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1310:Eme1
|
UTSW |
11 |
94,536,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Eme1
|
UTSW |
11 |
94,536,787 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2138:Eme1
|
UTSW |
11 |
94,539,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Eme1
|
UTSW |
11 |
94,536,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2427:Eme1
|
UTSW |
11 |
94,541,801 (GRCm39) |
unclassified |
probably benign |
|
|
R3807:Eme1
|
UTSW |
11 |
94,541,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Eme1
|
UTSW |
11 |
94,538,818 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6889:Eme1
|
UTSW |
11 |
94,541,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Eme1
|
UTSW |
11 |
94,541,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Eme1
|
UTSW |
11 |
94,536,666 (GRCm39) |
nonsense |
probably null |
|
|
R7901:Eme1
|
UTSW |
11 |
94,541,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Eme1
|
UTSW |
11 |
94,541,447 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9083:Eme1
|
UTSW |
11 |
94,540,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Eme1
|
UTSW |
11 |
94,538,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9297:Eme1
|
UTSW |
11 |
94,541,614 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9436:Eme1
|
UTSW |
11 |
94,538,507 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Eme1
|
UTSW |
11 |
94,541,339 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0021:Eme1
|
UTSW |
11 |
94,541,344 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1176:Eme1
|
UTSW |
11 |
94,541,522 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2012-12-06 |
Incidental Mutation