Incidental Mutation 'R0925:Eme1'
ID |
83159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eme1
|
Ensembl Gene |
ENSMUSG00000039055 |
Gene Name |
essential meiotic structure-specific endonuclease 1 |
Synonyms |
|
MMRRC Submission |
039072-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0925 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94541558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 88
(E88G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036361
(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 |
probably damaging
Transcript: ENSMUST00000039949
AA Change: E88G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000036361 Gene: ENSMUSG00000039055 AA Change: E88G
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: ENSMUST00000132813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129498
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGGAACATCGGGAATCTTTGGC -3'
(R):5'- TCCACGGAGAGTGATTCTGAGGAC -3'
Sequencing Primer
(F):5'- CTTTTCCAGTCACATGGTGC -3'
(R):5'- TGAGGACCTGCCCACATTTG -3'
|
Posted On |
2013-11-08 |