Incidental Mutation 'IGL00089:Mrps34'
| ID |
822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps34
|
| Ensembl Gene |
ENSMUSG00000038880 |
| Gene Name |
mitochondrial ribosomal protein S34 |
| Synonyms |
0610007F04Rik, 5330430D13Rik, Tce2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL00089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25114094-25115263 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25114344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 68
(L68P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000119848]
[ENSMUST00000119115]
[ENSMUST00000117509]
[ENSMUST00000120035]
[ENSMUST00000130194]
[ENSMUST00000119829]
[ENSMUST00000121542]
[ENSMUST00000117890]
[ENSMUST00000121787]
[ENSMUST00000120943]
[ENSMUST00000121723]
[ENSMUST00000154236]
[ENSMUST00000146923]
[ENSMUST00000144430]
[ENSMUST00000178969]
[ENSMUST00000168265]
[ENSMUST00000139754]
|
| AlphaFold |
Q9JIK9 |
| 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 damaging
Transcript: ENSMUST00000043907
AA Change: L68P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045111
Gene: ENSMUSG00000038880
AA Change: L68P
| 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 |
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: 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: 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: 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: 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: 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: 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: 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: 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: 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 damaging
Transcript: ENSMUST00000154236
AA Change: L68P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120985
Gene: ENSMUSG00000038880
AA Change: L68P
| 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 |
noncoding transcript
Transcript: ENSMUST00000156659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147109
|
| 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: 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: 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: 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: ENSMUST00000139754
|
| SMART Domains |
Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
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.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mitochondrial malfunction with cardiac hypertrophy and liver steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,854 (GRCm39) |
S580P |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,342,700 (GRCm39) |
I927F |
possibly damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,765 (GRCm39) |
V1168A |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,278,847 (GRCm39) |
N1052K |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,895,373 (GRCm39) |
Q1155K |
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,098,915 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
T |
C |
11: 23,446,837 (GRCm39) |
E42G |
probably damaging |
Het |
| Ankk1 |
T |
G |
9: 49,333,200 (GRCm39) |
I95L |
probably benign |
Het |
| Anpep |
A |
T |
7: 79,491,734 (GRCm39) |
L89Q |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,306,083 (GRCm39) |
N83S |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,863,525 (GRCm39) |
|
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,798,841 (GRCm39) |
F849L |
probably benign |
Het |
| BC106179 |
A |
G |
16: 23,043,022 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,608 (GRCm39) |
*129Q |
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,963,671 (GRCm39) |
I888V |
probably null |
Het |
| Calb2 |
A |
T |
8: 110,872,303 (GRCm39) |
L227Q |
probably damaging |
Het |
| Ccp110 |
G |
T |
7: 118,321,647 (GRCm39) |
C434F |
possibly damaging |
Het |
| Cd209c |
A |
T |
8: 3,990,339 (GRCm39) |
C160S |
probably damaging |
Het |
| Chmp1a |
A |
G |
8: 123,935,758 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
A |
9: 105,635,390 (GRCm39) |
|
probably null |
Het |
| Cyld |
T |
A |
8: 89,432,085 (GRCm39) |
C28S |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,908,854 (GRCm39) |
I1156F |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 38,133,454 (GRCm39) |
Y16* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,438,982 (GRCm39) |
S1117A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,955 (GRCm39) |
D203E |
probably damaging |
Het |
| Dhx15 |
G |
T |
5: 52,324,117 (GRCm39) |
L392I |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,823,680 (GRCm39) |
D567G |
probably benign |
Het |
| Eaf1 |
T |
A |
14: 31,226,483 (GRCm39) |
|
probably null |
Het |
| Efnb2 |
T |
C |
8: 8,710,589 (GRCm39) |
D9G |
probably benign |
Het |
| Fcrla |
A |
T |
1: 170,755,067 (GRCm39) |
C15S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,291,686 (GRCm39) |
N588S |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,945,412 (GRCm39) |
|
probably benign |
Het |
| Gm10146 |
A |
T |
10: 78,229,307 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,653 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,741,274 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
C |
1: 125,800,468 (GRCm39) |
R406S |
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,503,504 (GRCm39) |
H31R |
probably damaging |
Het |
| Helz2 |
G |
T |
2: 180,871,495 (GRCm39) |
R2706S |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,127,798 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
A |
G |
3: 3,713,142 (GRCm39) |
T239A |
probably benign |
Het |
| Hps5 |
A |
T |
7: 46,425,362 (GRCm39) |
I413N |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,256,131 (GRCm39) |
G1413R |
probably damaging |
Het |
| Itgax |
T |
G |
7: 127,734,498 (GRCm39) |
M352R |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,638,568 (GRCm39) |
M433K |
probably damaging |
Het |
| Kcna4 |
T |
G |
2: 107,126,207 (GRCm39) |
S314A |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 64,907,142 (GRCm39) |
T42I |
possibly damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,945 (GRCm39) |
T622I |
probably benign |
Het |
| Krt86 |
T |
A |
15: 101,374,396 (GRCm39) |
M263K |
possibly damaging |
Het |
| Lap3 |
A |
G |
5: 45,663,511 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
T |
4: 101,672,232 (GRCm39) |
R1085S |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,306,769 (GRCm39) |
I314V |
probably benign |
Het |
| Luc7l2 |
T |
C |
6: 38,585,105 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
T |
A |
6: 88,870,383 (GRCm39) |
M117L |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,815,138 (GRCm39) |
Y133H |
probably damaging |
Het |
| Minar1 |
C |
T |
9: 89,483,853 (GRCm39) |
V515I |
probably benign |
Het |
| Mlkl |
T |
A |
8: 112,046,060 (GRCm39) |
R317* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,738,764 (GRCm39) |
E1299G |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,791,709 (GRCm39) |
L139P |
possibly damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,627,413 (GRCm39) |
D86G |
probably damaging |
Het |
| Or10u4 |
T |
A |
10: 129,801,673 (GRCm39) |
R293W |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,110 (GRCm39) |
I100N |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,412 (GRCm39) |
M39L |
probably benign |
Het |
| Patj |
T |
C |
4: 98,353,343 (GRCm39) |
F629L |
probably damaging |
Het |
| Rad23a |
A |
G |
8: 85,562,524 (GRCm39) |
F280L |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,769,558 (GRCm39) |
G811V |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,796 (GRCm39) |
D177G |
probably benign |
Het |
| Sult1c2 |
A |
C |
17: 54,140,147 (GRCm39) |
Y159* |
probably null |
Het |
| Surf6 |
T |
A |
2: 26,783,081 (GRCm39) |
|
probably null |
Het |
| Susd6 |
T |
G |
12: 80,916,841 (GRCm39) |
|
probably benign |
Het |
| Sypl2 |
G |
A |
3: 108,133,742 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,984,280 (GRCm39) |
F2289Y |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,037,071 (GRCm39) |
I223T |
probably benign |
Het |
| Vmn1r234 |
C |
T |
17: 21,449,860 (GRCm39) |
T258I |
possibly damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,854 (GRCm39) |
K263M |
possibly damaging |
Het |
| Vmo1 |
A |
T |
11: 70,404,424 (GRCm39) |
N192K |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,312 (GRCm39) |
N440D |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,156,159 (GRCm39) |
Y264H |
unknown |
Het |
| Zfp639 |
T |
G |
3: 32,573,902 (GRCm39) |
|
probably null |
Het |
| Zfp831 |
T |
C |
2: 174,488,078 (GRCm39) |
Y918H |
possibly damaging |
Het |
|
| Other mutations in Mrps34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Mrps34
|
APN |
17 |
25,116,310 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02615:Mrps34
|
APN |
17 |
25,114,767 (GRCm39) |
splice site |
probably null |
|
|
IGL02693:Mrps34
|
APN |
17 |
25,114,172 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0096:Mrps34
|
UTSW |
17 |
25,114,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0096:Mrps34
|
UTSW |
17 |
25,114,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2103:Mrps34
|
UTSW |
17 |
25,114,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7471:Mrps34
|
UTSW |
17 |
25,114,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Mrps34
|
UTSW |
17 |
25,114,852 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9535:Mrps34
|
UTSW |
17 |
25,114,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Mrps34
|
UTSW |
17 |
25,114,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2011-07-12 |
Incidental Mutation