Incidental Mutation 'R0842:Eme1'
ID |
77227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eme1
|
Ensembl Gene |
ENSMUSG00000039055 |
Gene Name |
essential meiotic structure-specific endonuclease 1 |
Synonyms |
|
MMRRC Submission |
039021-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0842 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 94541700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 41
(A41T)
|
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 benign
Transcript: ENSMUST00000039949
AA Change: A41T
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000036361 Gene: ENSMUSG00000039055 AA Change: A41T
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
T |
A |
17: 68,793,957 (GRCm39) |
D320E |
probably benign |
Het |
Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGCTTGCTCGTCAAAAGCTTAC -3'
(R):5'- AGTTCCAGATTGAATGTGCTGAGGG -3'
Sequencing Primer
(F):5'- ACATGTGATCCTCTCAGCTAGG -3'
(R):5'- TGGAGCAGCTTCAGTGAC -3'
|
Posted On |
2013-10-16 |