Incidental Mutation 'IGL01122:Eme2'
| ID |
53092 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eme2
|
| Ensembl Gene |
ENSMUSG00000073436 |
| Gene Name |
essential meiotic structure-specific endonuclease subunit 2 |
| Synonyms |
2810013J18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25111126-25114061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25112320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 202
(A202T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000121542]
[ENSMUST00000119848]
[ENSMUST00000119829]
[ENSMUST00000120943]
[ENSMUST00000130194]
[ENSMUST00000121787]
[ENSMUST00000117509]
[ENSMUST00000117890]
[ENSMUST00000121723]
[ENSMUST00000139754]
[ENSMUST00000146923]
[ENSMUST00000154236]
[ENSMUST00000178969]
[ENSMUST00000144430]
[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: 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 benign
Transcript: ENSMUST00000121542
AA Change: A202T
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
AA Change: A202T
| 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 |
possibly damaging
Transcript: ENSMUST00000119848
AA Change: A202T
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
AA Change: A202T
| 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: ENSMUST00000134932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125532
|
| 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000145882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
| 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: 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 |
|
| 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: 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
Het |
|
| Other mutations in Eme2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation