Incidental Mutation 'R0348:Nme3'
| ID |
36029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme3
|
| Ensembl Gene |
ENSMUSG00000073435 |
| Gene Name |
NME/NM23 nucleoside diphosphate kinase 3 |
| Synonyms |
Ndk3, non-metastatic cells 3, protein expressed in, Nm23-M3, DR-nm23, 1810009F08Rik |
| MMRRC Submission |
038555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R0348 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25115474-25116496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25115491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 2
(I2F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000119115]
[ENSMUST00000119848]
[ENSMUST00000121787]
[ENSMUST00000121542]
[ENSMUST00000121723]
[ENSMUST00000117890]
[ENSMUST00000120035]
[ENSMUST00000120943]
[ENSMUST00000117509]
[ENSMUST00000119829]
[ENSMUST00000178969]
[ENSMUST00000154236]
[ENSMUST00000168265]
[ENSMUST00000146923]
[ENSMUST00000139754]
|
| AlphaFold |
Q9WV85 |
| 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 |
possibly damaging
Transcript: ENSMUST00000024978
AA Change: I2F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024978
Gene: ENSMUSG00000073435
AA Change: I2F
| 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 |
noncoding transcript
Transcript: ENSMUST00000127293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125648
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000138648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156663
|
| 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: 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: 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: ENSMUST00000139754
|
| SMART Domains |
Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit transmission distortion ratio of the t-haplotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,871,092 (GRCm39) |
D235A |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
| Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
C |
12: 112,703,240 (GRCm39) |
Y568H |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
| Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
| Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
| Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
| Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
| Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
| Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
| Lrig3 |
T |
A |
10: 125,849,317 (GRCm39) |
C1012* |
probably null |
Het |
| Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,167,424 (GRCm39) |
Y372H |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
| Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
| Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
| Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
| Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
| Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
| Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
| Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
| Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
| Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,454,012 (GRCm39) |
L308H |
probably damaging |
Het |
| Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
| Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
| Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
| Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
probably damaging |
Het |
|
| Other mutations in Nme3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02883:Nme3
|
APN |
17 |
25,115,880 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4943:Nme3
|
UTSW |
17 |
25,115,697 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5567:Nme3
|
UTSW |
17 |
25,115,823 (GRCm39) |
splice site |
probably null |
|
|
R6696:Nme3
|
UTSW |
17 |
25,116,268 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6891:Nme3
|
UTSW |
17 |
25,115,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7261:Nme3
|
UTSW |
17 |
25,116,037 (GRCm39) |
splice site |
probably null |
|
|
R7548:Nme3
|
UTSW |
17 |
25,115,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGCCAGGAAACAGCCTGTG -3'
(R):5'- TGAAGCCCTTCCTCTCAAAGCGAC -3'
Sequencing Primer
(F):5'- CAGGAAACAGCCTGTGTTGTG -3'
(R):5'- AAGCGACGCACGATCTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation