Incidental Mutation 'R7285:Eme2'
ID |
565963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eme2
|
Ensembl Gene |
ENSMUSG00000073436 |
Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
Synonyms |
2810013J18Rik |
MMRRC Submission |
045393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R7285 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25111126-25114061 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 25113543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000121542]
[ENSMUST00000115229]
[ENSMUST00000117509]
[ENSMUST00000117890]
[ENSMUST00000119115]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000120035]
[ENSMUST00000120943]
[ENSMUST00000121723]
[ENSMUST00000121787]
[ENSMUST00000130194]
[ENSMUST00000139754]
[ENSMUST00000144430]
[ENSMUST00000146923]
[ENSMUST00000154236]
[ENSMUST00000168265]
[ENSMUST00000178969]
|
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: ENSMUST00000024978
|
SMART Domains |
Protein: ENSMUSP00000024978 Gene: ENSMUSG00000073435
Domain | Start | End | E-Value | Type |
NDK
|
21 |
158 |
1.06e-90 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043907
|
SMART Domains |
Protein: ENSMUSP00000045111 Gene: ENSMUSG00000038880
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
Pfam:MRP-S34
|
61 |
187 |
5.3e-52 |
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: ENSMUST00000088345
|
SMART Domains |
Protein: ENSMUSP00000085683 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: ENSMUST00000115228
|
SMART Domains |
Protein: ENSMUSP00000110883 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
|
411 |
466 |
7e-20 |
PDB |
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
low complexity region
|
739 |
754 |
N/A |
INTRINSIC |
low complexity region
|
878 |
886 |
N/A |
INTRINSIC |
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
972 |
1152 |
3e-8 |
SMART |
Blast:WD40
|
1060 |
1101 |
6e-18 |
BLAST |
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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: ENSMUST00000115229
|
SMART Domains |
Protein: ENSMUSP00000110884 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
184 |
2.9e-60 |
PFAM |
low complexity region
|
244 |
257 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:JIP_LZII
|
423 |
493 |
3.1e-32 |
PFAM |
coiled coil region
|
533 |
563 |
N/A |
INTRINSIC |
low complexity region
|
590 |
604 |
N/A |
INTRINSIC |
low complexity region
|
762 |
777 |
N/A |
INTRINSIC |
low complexity region
|
901 |
909 |
N/A |
INTRINSIC |
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
995 |
1175 |
4e-8 |
SMART |
Blast:WD40
|
1083 |
1124 |
7e-18 |
BLAST |
low complexity region
|
1268 |
1284 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117509
|
SMART Domains |
Protein: ENSMUSP00000112712 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
low complexity region
|
238 |
247 |
N/A |
INTRINSIC |
PDB:2W83|D
|
394 |
449 |
7e-20 |
PDB |
coiled coil region
|
502 |
532 |
N/A |
INTRINSIC |
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
low complexity region
|
731 |
746 |
N/A |
INTRINSIC |
low complexity region
|
870 |
878 |
N/A |
INTRINSIC |
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
964 |
1144 |
3e-8 |
SMART |
Blast:WD40
|
1052 |
1093 |
6e-18 |
BLAST |
low complexity region
|
1237 |
1253 |
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: ENSMUST00000119115
|
SMART Domains |
Protein: ENSMUSP00000112955 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.3e-72 |
PFAM |
low complexity region
|
229 |
238 |
N/A |
INTRINSIC |
PDB:2W83|D
|
385 |
440 |
7e-20 |
PDB |
coiled coil region
|
493 |
523 |
N/A |
INTRINSIC |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
low complexity region
|
722 |
737 |
N/A |
INTRINSIC |
low complexity region
|
861 |
869 |
N/A |
INTRINSIC |
low complexity region
|
896 |
908 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
955 |
1135 |
3e-8 |
SMART |
Blast:WD40
|
1043 |
1084 |
5e-18 |
BLAST |
low complexity region
|
1228 |
1244 |
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 null
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: ENSMUST00000120035
|
SMART Domains |
Protein: ENSMUSP00000114084 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.4e-72 |
PFAM |
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
low complexity region
|
260 |
269 |
N/A |
INTRINSIC |
PDB:2W83|D
|
416 |
471 |
6e-20 |
PDB |
coiled coil region
|
524 |
554 |
N/A |
INTRINSIC |
low complexity region
|
581 |
595 |
N/A |
INTRINSIC |
low complexity region
|
753 |
768 |
N/A |
INTRINSIC |
low complexity region
|
892 |
900 |
N/A |
INTRINSIC |
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
986 |
1166 |
3e-8 |
SMART |
Blast:WD40
|
1074 |
1115 |
6e-18 |
BLAST |
low complexity region
|
1259 |
1275 |
N/A |
INTRINSIC |
|
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: ENSMUST00000121723
|
SMART Domains |
Protein: ENSMUSP00000113698 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1e-72 |
PFAM |
low complexity region
|
230 |
239 |
N/A |
INTRINSIC |
PDB:2W83|D
|
386 |
441 |
7e-20 |
PDB |
coiled coil region
|
494 |
524 |
N/A |
INTRINSIC |
low complexity region
|
551 |
565 |
N/A |
INTRINSIC |
low complexity region
|
723 |
738 |
N/A |
INTRINSIC |
low complexity region
|
862 |
870 |
N/A |
INTRINSIC |
low complexity region
|
897 |
909 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
956 |
1136 |
3e-8 |
SMART |
Blast:WD40
|
1044 |
1085 |
5e-18 |
BLAST |
low complexity region
|
1229 |
1245 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121787
|
SMART Domains |
Protein: ENSMUSP00000113753 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
3.8e-73 |
PFAM |
low complexity region
|
230 |
239 |
N/A |
INTRINSIC |
PDB:2W83|D
|
380 |
435 |
8e-20 |
PDB |
coiled coil region
|
488 |
518 |
N/A |
INTRINSIC |
low complexity region
|
545 |
559 |
N/A |
INTRINSIC |
low complexity region
|
717 |
732 |
N/A |
INTRINSIC |
low complexity region
|
856 |
864 |
N/A |
INTRINSIC |
low complexity region
|
891 |
903 |
N/A |
INTRINSIC |
SCOP:d1flga_
|
950 |
1130 |
3e-8 |
SMART |
Blast:WD40
|
1038 |
1079 |
6e-18 |
BLAST |
low complexity region
|
1223 |
1239 |
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 |
probably benign
Transcript: ENSMUST00000144430
|
SMART Domains |
Protein: ENSMUSP00000117226 Gene: ENSMUSG00000024160
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: ENSMUST00000154236
|
SMART Domains |
Protein: ENSMUSP00000120985 Gene: ENSMUSG00000038880
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
low complexity region
|
59 |
79 |
N/A |
INTRINSIC |
Blast:NDK
|
172 |
208 |
3e-12 |
BLAST |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178969
|
SMART Domains |
Protein: ENSMUSP00000136924 Gene: ENSMUSG00000024163
Domain | Start | End | E-Value | Type |
Pfam:Jnk-SapK_ap_N
|
29 |
186 |
1.1e-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 |
3e-8 |
SMART |
Blast:WD40
|
1075 |
1116 |
6e-18 |
BLAST |
low complexity region
|
1260 |
1276 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,543,519 (GRCm39) |
I437V |
probably benign |
Het |
Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
Inpp5e |
G |
A |
2: 26,287,870 (GRCm39) |
A642V |
probably benign |
Het |
Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
Lcor |
A |
G |
19: 41,572,754 (GRCm39) |
K503R |
possibly damaging |
Het |
Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
Meioc |
G |
A |
11: 102,557,168 (GRCm39) |
V25M |
probably benign |
Het |
Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,310,610 (GRCm39) |
S175P |
possibly damaging |
Het |
Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
probably benign |
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 |
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 |
R9285:Eme2
|
UTSW |
17 |
25,108,132 (GRCm39) |
intron |
probably benign |
|
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'- AAGTTCAGGCCAGTTGGGTC -3'
(R):5'- GTGGAATAACTCAATGTGCCTGC -3'
Sequencing Primer
(F):5'- GTTCCCTAGAAGTCCCTGAATAC -3'
(R):5'- TAACTCAATGTGCCTGCTGGGATC -3'
|
Posted On |
2019-06-26 |