Incidental Mutation 'R1310:Eme1'
ID |
157910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eme1
|
Ensembl Gene |
ENSMUSG00000039055 |
Gene Name |
essential meiotic structure-specific endonuclease 1 |
Synonyms |
|
MMRRC Submission |
039376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1310 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94536368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 534
(R534C)
|
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: R534C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036361 Gene: ENSMUSG00000039055 AA Change: R534C
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
A |
G |
17: 57,754,936 (GRCm39) |
H678R |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,714,496 (GRCm39) |
V929A |
probably benign |
Het |
Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
C87436 |
A |
G |
6: 86,422,432 (GRCm39) |
E2G |
possibly damaging |
Het |
Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
Drd3 |
A |
G |
16: 43,641,892 (GRCm39) |
K403E |
probably damaging |
Het |
H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
Or4x11 |
T |
A |
2: 89,868,047 (GRCm39) |
D261E |
probably benign |
Het |
Or51a43 |
C |
T |
7: 103,717,805 (GRCm39) |
M144I |
probably benign |
Het |
Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
Sik3 |
A |
G |
9: 46,130,724 (GRCm39) |
E1170G |
possibly damaging |
Het |
Soat1 |
A |
G |
1: 156,268,902 (GRCm39) |
L183P |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
Yod1 |
C |
T |
1: 130,646,567 (GRCm39) |
A148V |
probably benign |
Het |
Zfp850 |
A |
C |
7: 27,688,884 (GRCm39) |
S441R |
probably benign |
Het |
Zfp976 |
G |
A |
7: 42,262,610 (GRCm39) |
P409L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGAGATGAGAGACTTGCTCC -3'
(R):5'- GGTGACCTTGCTCTCCAAACATCG -3'
Sequencing Primer
(F):5'- GATGAGAGACTTGCTCCCTAACTG -3'
(R):5'- TGAGAAAGGCCAGGTTCTCC -3'
|
Posted On |
2014-02-18 |