Incidental Mutation 'R2427:Eme1'
ID |
250285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eme1
|
Ensembl Gene |
ENSMUSG00000039055 |
Gene Name |
essential meiotic structure-specific endonuclease 1 |
Synonyms |
|
MMRRC Submission |
040389-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2427 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 94541801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025278]
[ENSMUST00000039949]
|
AlphaFold |
Q8BJW7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025278
|
SMART Domains |
Protein: ENSMUSP00000025278 Gene: ENSMUSG00000024414
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L27
|
31 |
114 |
2e-26 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000039949
AA Change: S7F
|
SMART Domains |
Protein: ENSMUSP00000036361 Gene: ENSMUSG00000039055 AA Change: S7F
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: ENSMUST00000125148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132813
|
Meta Mutation Damage Score |
0.0668 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (37/37) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
Other mutations in Eme1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00772:Eme1
|
APN |
11 |
94,536,277 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTAGCACTCTGACTGGC -3'
(R):5'- CTGAGGGCATGTCCTGTTTC -3'
Sequencing Primer
(F):5'- GACACATGGTGGACCTTTGAG -3'
(R):5'- AGGGCATGTCCTGTTTCTCTGATTC -3'
|
Posted On |
2014-11-12 |