Incidental Mutation 'R1398:Eme2'
| ID |
160267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eme2
|
| Ensembl Gene |
ENSMUSG00000073436 |
| Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
| Synonyms |
2810013J18Rik |
| MMRRC Submission |
039460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25111126-25114061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25111892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 263
(S263F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000121542]
[ENSMUST00000119848]
[ENSMUST00000121723]
[ENSMUST00000120943]
[ENSMUST00000117509]
[ENSMUST00000130194]
[ENSMUST00000121787]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000139754]
[ENSMUST00000146923]
[ENSMUST00000168265]
[ENSMUST00000144430]
[ENSMUST00000154236]
[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: S263F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
AA Change: S263F
| 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 damaging
Transcript: ENSMUST00000119848
AA Change: S263F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
AA Change: S263F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ERCC4
|
71 |
320 |
8.51e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138648
|
| 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: 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000145882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150500
|
| 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: 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 |
|
| 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: 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: 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 |
0.3316 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
96% (75/78) |
| 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 |
|---|
| Abca17 |
T |
C |
17: 24,547,511 (GRCm39) |
K288E |
probably damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,147,562 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 89,885,891 (GRCm39) |
T196A |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,044,926 (GRCm39) |
T327S |
possibly damaging |
Het |
| Bdh2 |
T |
C |
3: 135,001,057 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,949,693 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,562,764 (GRCm39) |
V847I |
possibly damaging |
Het |
| Cadps |
G |
T |
14: 12,449,822 (GRCm38) |
T1129K |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,600,721 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,480,285 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,825 (GRCm39) |
|
probably null |
Het |
| Cnot11 |
A |
G |
1: 39,584,261 (GRCm39) |
R478G |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,627,069 (GRCm39) |
S254P |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,020,841 (GRCm39) |
K87* |
probably null |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,559 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,221,393 (GRCm39) |
I694N |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,958,081 (GRCm39) |
I168K |
probably benign |
Het |
| Eif4e |
A |
T |
3: 138,252,136 (GRCm39) |
N25Y |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,430,297 (GRCm39) |
Y69C |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,854,147 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,361,358 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,586 (GRCm38) |
Y92* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,496 (GRCm39) |
S409C |
possibly damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,691,244 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,706 (GRCm39) |
Y231H |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,014,395 (GRCm39) |
H614L |
possibly damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
C |
A |
3: 87,846,061 (GRCm39) |
L325I |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,033,190 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcnk10 |
C |
A |
12: 98,402,485 (GRCm39) |
W318L |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,654 (GRCm39) |
E323G |
possibly damaging |
Het |
| Kif4 |
G |
T |
X: 99,732,703 (GRCm39) |
A492S |
probably benign |
Het |
| Krtap4-1 |
T |
C |
11: 99,518,558 (GRCm39) |
T151A |
unknown |
Het |
| Ldlr |
A |
T |
9: 21,650,838 (GRCm39) |
Q449L |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,322 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,838,957 (GRCm39) |
P488L |
probably benign |
Het |
| Lrrc4b |
A |
C |
7: 44,111,876 (GRCm39) |
I583L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,915,121 (GRCm39) |
S3272P |
possibly damaging |
Het |
| Marchf2 |
T |
C |
17: 33,915,096 (GRCm39) |
H166R |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,440,933 (GRCm39) |
Y373* |
probably null |
Het |
| Myh2 |
C |
T |
11: 67,076,113 (GRCm39) |
H767Y |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,428,889 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,179,658 (GRCm39) |
N1282Y |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,119 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Nrros |
A |
T |
16: 31,961,962 (GRCm39) |
I649N |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,924,691 (GRCm39) |
|
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,994,708 (GRCm39) |
V127E |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,435 (GRCm39) |
V368E |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,882,857 (GRCm39) |
S1674T |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,850,307 (GRCm39) |
V31A |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,697,579 (GRCm39) |
V692E |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,372 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,532,212 (GRCm39) |
I597V |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,658 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,314,930 (GRCm39) |
M1587T |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,512,104 (GRCm39) |
I597F |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,636,268 (GRCm39) |
N650S |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,107,566 (GRCm39) |
S167* |
probably null |
Het |
| Slfn1 |
T |
A |
11: 83,011,968 (GRCm39) |
M28K |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,321,880 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,857 (GRCm39) |
H282R |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,724,422 (GRCm39) |
Q253K |
possibly damaging |
Het |
| Syngr3 |
C |
A |
17: 24,905,414 (GRCm39) |
V161L |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,283,425 (GRCm39) |
S397F |
probably damaging |
Het |
| Uso1 |
C |
T |
5: 92,329,327 (GRCm39) |
A405V |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,715,027 (GRCm39) |
Y190* |
probably null |
Het |
| Vps13d |
A |
T |
4: 144,826,553 (GRCm39) |
L1726Q |
probably null |
Het |
| Vwf |
A |
T |
6: 125,580,420 (GRCm39) |
Q556L |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 8,065,325 (GRCm39) |
M246L |
probably benign |
Het |
| Yipf3 |
T |
C |
17: 46,562,372 (GRCm39) |
F285S |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,476,621 (GRCm39) |
G579R |
probably damaging |
Het |
| Zdhhc18 |
G |
C |
4: 133,354,608 (GRCm39) |
F125L |
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 |
|
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 |
|
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'- AGGGATTTAGGGGACTCACCTGTTG -3'
(R):5'- TCCATGCAAACCTGGATGTGCTG -3'
Sequencing Primer
(F):5'- TCACCTGTTGCAAAAGGCG -3'
(R):5'- CTTCGTGGCAGGAGCTGAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation