Incidental Mutation 'R7315:Eme2'
| ID |
567918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eme2
|
| Ensembl Gene |
ENSMUSG00000073436 |
| Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
| Synonyms |
2810013J18Rik |
| MMRRC Submission |
045368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R7315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25111126-25114061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25113840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 62
(R62W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000121542]
[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 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 damaging
Transcript: ENSMUST00000121542
AA Change: R62W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
AA Change: R62W
| 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: 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 damaging
Transcript: ENSMUST00000119848
AA Change: R62W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
AA Change: R62W
| 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 damaging
Transcript: ENSMUST00000139754
AA Change: R62W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436
AA Change: R62W
| 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 |
|
| Meta Mutation Damage Score |
0.1976 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
C |
7: 119,893,341 (GRCm39) |
I1264L |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,142 (GRCm39) |
D484E |
probably damaging |
Het |
| Abhd13 |
T |
A |
8: 10,037,970 (GRCm39) |
L189H |
probably damaging |
Het |
| Acox2 |
T |
C |
14: 8,256,139 (GRCm38) |
D60G |
probably damaging |
Het |
| Acp3 |
A |
G |
9: 104,193,423 (GRCm39) |
|
probably null |
Het |
| Agpat4 |
C |
T |
17: 12,429,185 (GRCm39) |
R146C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,793,504 (GRCm39) |
S411P |
unknown |
Het |
| B4galt5 |
A |
G |
2: 167,143,296 (GRCm39) |
V376A |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,344,041 (GRCm39) |
Y198C |
probably damaging |
Het |
| Cd1d1 |
C |
T |
3: 86,905,420 (GRCm39) |
R191H |
possibly damaging |
Het |
| Cd93 |
A |
G |
2: 148,284,461 (GRCm39) |
V295A |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,270 (GRCm39) |
T615I |
possibly damaging |
Het |
| Cfap74 |
T |
C |
4: 155,547,476 (GRCm39) |
Y1221H |
unknown |
Het |
| Col24a1 |
G |
A |
3: 145,137,625 (GRCm39) |
S896N |
possibly damaging |
Het |
| Crppa |
A |
G |
12: 36,440,373 (GRCm39) |
T94A |
probably benign |
Het |
| Cst7 |
C |
A |
2: 150,412,503 (GRCm39) |
P22Q |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,061,743 (GRCm39) |
A2781T |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,656,423 (GRCm39) |
A1588T |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,712,217 (GRCm39) |
I118F |
probably damaging |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,473 (GRCm39) |
E128G |
unknown |
Het |
| Epha3 |
A |
T |
16: 63,372,972 (GRCm39) |
D910E |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,936,783 (GRCm39) |
D654G |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,413,512 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,802,486 (GRCm39) |
H1032Q |
probably benign |
Het |
| Kitl |
G |
A |
10: 99,851,974 (GRCm39) |
R31H |
unknown |
Het |
| Lcp2 |
G |
A |
11: 34,019,906 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,322,166 (GRCm39) |
H1921R |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,051 (GRCm39) |
T400A |
probably benign |
Het |
| Mak16 |
G |
A |
8: 31,654,766 (GRCm39) |
R143* |
probably null |
Het |
| Mettl23 |
A |
G |
11: 116,739,928 (GRCm39) |
I159V |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,005,036 (GRCm39) |
N335D |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,276,645 (GRCm39) |
C12R |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,387,892 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,198,037 (GRCm39) |
N33S |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,951,009 (GRCm39) |
N367D |
probably benign |
Het |
| Noc2l |
T |
G |
4: 156,325,817 (GRCm39) |
S354R |
probably damaging |
Het |
| Opn1sw |
A |
T |
6: 29,379,362 (GRCm39) |
I214N |
probably damaging |
Het |
| Or12d14-ps1 |
G |
T |
17: 37,673,551 (GRCm39) |
C181F |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,696,961 (GRCm39) |
I71F |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,445 (GRCm39) |
S192P |
probably damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,004 (GRCm39) |
V113A |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,496 (GRCm39) |
F98L |
probably benign |
Het |
| Or7e169 |
G |
T |
9: 19,757,131 (GRCm39) |
S261R |
probably damaging |
Het |
| Or8a1 |
T |
C |
9: 37,641,872 (GRCm39) |
M136V |
probably benign |
Het |
| Or8b9 |
A |
T |
9: 37,766,543 (GRCm39) |
Y143F |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,616,625 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pes1 |
A |
G |
11: 3,926,085 (GRCm39) |
I291M |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,198,284 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,624,504 (GRCm39) |
T1030K |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,477 (GRCm39) |
M268V |
probably benign |
Het |
| Rbl2 |
A |
T |
8: 91,802,640 (GRCm39) |
T154S |
probably damaging |
Het |
| Rgs1 |
A |
G |
1: 144,124,637 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
C |
T |
14: 52,358,458 (GRCm39) |
T188I |
not run |
Het |
| Rrp1b |
T |
A |
17: 32,277,545 (GRCm39) |
F608L |
probably benign |
Het |
| Sbp |
C |
T |
17: 24,164,280 (GRCm39) |
A154V |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,889 (GRCm39) |
E243K |
probably damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,156,240 (GRCm39) |
D110V |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,145 (GRCm39) |
D875V |
probably benign |
Het |
| Slc2a4 |
G |
C |
11: 69,837,259 (GRCm39) |
T59R |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,247,310 (GRCm39) |
S462P |
probably damaging |
Het |
| Slc66a1 |
G |
A |
4: 139,029,181 (GRCm39) |
T101M |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,862,720 (GRCm39) |
|
probably null |
Het |
| Steap3 |
A |
G |
1: 120,155,642 (GRCm39) |
V439A |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,698,541 (GRCm39) |
D268N |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,214,395 (GRCm39) |
T422I |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,807,849 (GRCm39) |
N242S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,071,544 (GRCm39) |
T2364A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,938,806 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,614,354 (GRCm39) |
N837K |
probably benign |
Het |
| Trim67 |
T |
A |
8: 125,521,069 (GRCm39) |
S144T |
probably benign |
Het |
| Zc3hav1l |
T |
G |
6: 38,272,082 (GRCm39) |
D229A |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,385 (GRCm39) |
V1184E |
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 |
|
R7285:Eme2
|
UTSW |
17 |
25,113,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- ATCTTCCAGGACAGCTGGATC -3'
(R):5'- ACAAAAGCATCCGGGTACG -3'
Sequencing Primer
(F):5'- CCCAGCAGGCACATTGAGTTATTC -3'
(R):5'- TACGTCCGGAAGCTTCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation