Incidental Mutation 'R3807:Eme1'
| ID |
274986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eme1
|
| Ensembl Gene |
ENSMUSG00000039055 |
| Gene Name |
essential meiotic structure-specific endonuclease 1 |
| Synonyms |
|
| MMRRC Submission |
040764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3807 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94535798-94544611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94541418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 135
(W135R)
|
| 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: W135R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: W135R
| 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: 99.2%
- 3x: 98.7%
- 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
T |
8: 112,717,002 (GRCm39) |
W2R |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,008,034 (GRCm39) |
I563T |
probably damaging |
Het |
| Armcx1 |
T |
C |
X: 133,622,014 (GRCm39) |
V372A |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,055,922 (GRCm39) |
N329K |
probably benign |
Het |
| Ccdc113 |
A |
T |
8: 96,269,281 (GRCm39) |
N193I |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,847 (GRCm39) |
L269Q |
probably damaging |
Het |
| Cttn |
C |
T |
7: 143,999,588 (GRCm39) |
V290M |
probably damaging |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,819 (GRCm39) |
M1455K |
possibly damaging |
Het |
| Entpd7 |
T |
G |
19: 43,713,979 (GRCm39) |
|
probably null |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Erich1 |
T |
C |
8: 14,083,695 (GRCm39) |
N125S |
probably benign |
Het |
| Fam149a |
T |
A |
8: 45,834,647 (GRCm39) |
T51S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,560,870 (GRCm39) |
D1212E |
probably benign |
Het |
| Garin3 |
G |
A |
11: 46,295,780 (GRCm39) |
A51T |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Gm11595 |
C |
T |
11: 99,663,380 (GRCm39) |
R100H |
unknown |
Het |
| Gria1 |
T |
C |
11: 57,201,504 (GRCm39) |
W712R |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,857,557 (GRCm39) |
N4047D |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,116 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Lama2 |
GCCC |
GCC |
10: 27,066,661 (GRCm39) |
|
probably null |
Het |
| Lrrc56 |
A |
G |
7: 140,789,298 (GRCm39) |
T393A |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Med14 |
T |
C |
X: 12,553,416 (GRCm39) |
Y463C |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,515,599 (GRCm39) |
D1734V |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,357 (GRCm39) |
R306* |
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,366,033 (GRCm39) |
V586E |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,670 (GRCm39) |
S133P |
probably benign |
Het |
| Or5h24 |
A |
C |
16: 58,919,206 (GRCm39) |
*50G |
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,367 (GRCm39) |
F559S |
probably damaging |
Het |
| Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,806,027 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rgs11 |
A |
T |
17: 26,422,474 (GRCm39) |
I69F |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,577 (GRCm39) |
A4277T |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,537 (GRCm39) |
V1359I |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,929 (GRCm39) |
V956E |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,978 (GRCm39) |
W302R |
probably damaging |
Het |
| Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
| Tdp2 |
C |
A |
13: 25,015,776 (GRCm39) |
S21* |
probably null |
Het |
| Tfrc |
A |
T |
16: 32,435,644 (GRCm39) |
N173I |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,864,644 (GRCm39) |
I917F |
probably damaging |
Het |
| Vbp1 |
T |
C |
X: 74,566,948 (GRCm39) |
V122A |
probably damaging |
Het |
| Vmn1r225 |
G |
A |
17: 20,723,114 (GRCm39) |
W185* |
probably null |
Het |
| Vmn1r70 |
A |
G |
7: 10,367,715 (GRCm39) |
T68A |
probably benign |
Het |
| Zfp518a |
A |
G |
19: 40,903,241 (GRCm39) |
K1057E |
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 |
|
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 |
|
|
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'- TGGACCGTCTGAATATGCTTGG -3'
(R):5'- AAAGGTCCACCATGTGTCCC -3'
Sequencing Primer
(F):5'- GACCGTCTGAATATGCTTGGTTCTC -3'
(R):5'- ACCATGTGTCCCCAGTGCAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation