Incidental Mutation 'R9285:Eme2'
| ID |
731322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eme2
|
| Ensembl Gene |
ENSMUSG00000073436 |
| Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
| Synonyms |
2810013J18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R9285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25111126-25114061 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 25108132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000120943]
[ENSMUST00000121542]
[ENSMUST00000130194]
[ENSMUST00000139754]
[ENSMUST00000144430]
[ENSMUST00000146923]
[ENSMUST00000168265]
|
| AlphaFold |
Q56A04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024976
|
| SMART Domains |
Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
181 |
304 |
5.7e-18 |
PFAM |
|
SOCS_box
|
309 |
347 |
2.8e0 |
SMART |
|
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044252
|
| SMART Domains |
Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ParA
|
16 |
267 |
3.2e-99 |
PFAM |
|
Pfam:ArsA_ATPase
|
19 |
66 |
1.7e-8 |
PFAM |
|
Pfam:AAA_31
|
19 |
79 |
1.5e-8 |
PFAM |
|
Pfam:MipZ
|
19 |
155 |
2.1e-10 |
PFAM |
|
Pfam:CbiA
|
21 |
199 |
2.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068508
|
| SMART Domains |
Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
252 |
1.3e-13 |
PFAM |
|
low complexity region
|
295 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117890
|
| SMART Domains |
Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119829
|
| SMART Domains |
Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
294 |
6.9e-16 |
PFAM |
|
SOCS_box
|
299 |
337 |
2.8e0 |
SMART |
|
low complexity region
|
354 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119848
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ERCC4
|
71 |
320 |
8.51e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120943
|
| SMART Domains |
Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121542
|
| SMART Domains |
Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ERCC4
|
71 |
320 |
1.4e-23 |
SMART |
|
low complexity region
|
366 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130194
|
| SMART Domains |
Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139754
|
| SMART Domains |
Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144430
AA Change: S43P
|
| SMART Domains |
Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160
AA Change: S43P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146923
|
| SMART Domains |
Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
|
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
270 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
417 |
472 |
6e-20 |
PDB |
|
coiled coil region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
901 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
SCOP:d1flga_
|
987 |
1167 |
4e-8 |
SMART |
|
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
|
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168265
|
| SMART Domains |
Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
294 |
416 |
5.8e-20 |
PFAM |
|
SOCS_box
|
420 |
458 |
2.8e0 |
SMART |
|
low complexity region
|
475 |
484 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,526,756 (GRCm39) |
T1085K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,654,989 (GRCm39) |
I1000F |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,465,141 (GRCm39) |
M308V |
probably benign |
Het |
| Chd3 |
G |
T |
11: 69,249,954 (GRCm39) |
R736S |
possibly damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,017 (GRCm39) |
H182L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,452,746 (GRCm39) |
F2112S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,956,088 (GRCm39) |
L3373H |
probably damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,946,402 (GRCm39) |
D303V |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,564 (GRCm39) |
K216N |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,833,012 (GRCm39) |
F1315V |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,925,568 (GRCm39) |
I222M |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,402 (GRCm39) |
Y164* |
probably null |
Het |
| Gm20939 |
T |
C |
17: 95,184,188 (GRCm39) |
F279L |
probably damaging |
Het |
| Gm44511 |
T |
C |
6: 128,777,017 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
A |
G |
13: 54,886,523 (GRCm39) |
S584P |
probably damaging |
Het |
| Ighv2-2 |
A |
T |
12: 113,551,903 (GRCm39) |
Y112N |
probably damaging |
Het |
| Kansl3 |
T |
C |
1: 36,383,148 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,381,611 (GRCm39) |
I449K |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,687 (GRCm39) |
R585G |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,662,686 (GRCm39) |
V1905E |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,972,870 (GRCm39) |
V343E |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,985,170 (GRCm39) |
F279S |
|
Het |
| Mgat3 |
A |
G |
15: 80,096,538 (GRCm39) |
D455G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,753 (GRCm39) |
Q2230L |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,895 (GRCm39) |
F179S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,199,604 (GRCm39) |
I72L |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,472,715 (GRCm39) |
T246A |
probably benign |
Het |
| Or4k2 |
A |
C |
14: 50,424,122 (GRCm39) |
V185G |
probably benign |
Het |
| Or4s2b |
T |
A |
2: 88,508,680 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,569 (GRCm39) |
K5* |
probably null |
Het |
| Or5p5 |
C |
T |
7: 107,413,821 (GRCm39) |
T10I |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,707,786 (GRCm39) |
L895P |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,480,345 (GRCm39) |
T707M |
probably benign |
Het |
| Ptk2b |
A |
T |
14: 66,410,844 (GRCm39) |
Y418N |
possibly damaging |
Het |
| Ptx4 |
T |
G |
17: 25,343,930 (GRCm39) |
Y393* |
probably null |
Het |
| Sass6 |
C |
A |
3: 116,422,354 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,398,264 (GRCm39) |
V22A |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,279 (GRCm39) |
E1668G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,935,435 (GRCm39) |
H226L |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,709,426 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,809 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
C |
A |
10: 78,588,234 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
A |
T |
11: 94,558,536 (GRCm39) |
I540N |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,723 (GRCm39) |
N780S |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,876,520 (GRCm39) |
M8K |
possibly damaging |
Het |
|
| Other mutations in Eme2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Eme2
|
APN |
17 |
25,112,320 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0930:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Eme2
|
UTSW |
17 |
25,111,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Eme2
|
UTSW |
17 |
25,112,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2327:Eme2
|
UTSW |
17 |
25,113,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4410:Eme2
|
UTSW |
17 |
25,112,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4635:Eme2
|
UTSW |
17 |
25,113,882 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7285:Eme2
|
UTSW |
17 |
25,113,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7315:Eme2
|
UTSW |
17 |
25,113,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Eme2
|
UTSW |
17 |
25,113,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Eme2
|
UTSW |
17 |
25,113,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8687:Eme2
|
UTSW |
17 |
25,113,813 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9258:Eme2
|
UTSW |
17 |
25,112,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Eme2
|
UTSW |
17 |
25,114,033 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Eme2
|
UTSW |
17 |
25,113,541 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCAGCCCAAATTTTCAGC -3'
(R):5'- AGTCGGGACTGAAAACCAAC -3'
Sequencing Primer
(F):5'- GTTCCTAATGATGCACCTGAAACAG -3'
(R):5'- CAACATCCAATTCTGGGTACTGTGTG -3'
|
| Posted On |
2022-10-24 |
Incidental Mutation