Incidental Mutation 'R1302:Eme2'
| ID |
158457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eme2
|
| Ensembl Gene |
ENSMUSG00000073436 |
| Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
| Synonyms |
2810013J18Rik |
| MMRRC Submission |
039368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1302 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
| 5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
| Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
| Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
| Adamts4 |
G |
A |
1: 171,080,752 (GRCm39) |
G360R |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
| Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
| Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
| Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
| Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
| Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
| Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
| Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
| Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
| H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
| Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
| Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
| Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
| Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
| Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,764,320 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
| Nrbp1 |
A |
G |
5: 31,407,233 (GRCm39) |
H354R |
probably benign |
Het |
| Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
| Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
| Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
| Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
| Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
| Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 71,875,504 (GRCm39) |
D119V |
probably benign |
Het |
| Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,421 (GRCm39) |
D870E |
probably benign |
Het |
| Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
| Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably 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 |
|
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 |
|
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 |
2014-02-18 |
Incidental Mutation