Incidental Mutation 'R0096:Mrps34'
ID |
64085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrps34
|
Ensembl Gene |
ENSMUSG00000038880 |
Gene Name |
mitochondrial ribosomal protein S34 |
Synonyms |
0610007F04Rik, 5330430D13Rik, Tce2 |
MMRRC Submission |
038382-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R0096 (G1)
|
Quality Score |
106 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25114094-25115263 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25114643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000068508]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000120035]
[ENSMUST00000115229]
[ENSMUST00000117890]
[ENSMUST00000119115]
[ENSMUST00000117509]
[ENSMUST00000119848]
[ENSMUST00000119829]
[ENSMUST00000121542]
[ENSMUST00000121723]
[ENSMUST00000120943]
[ENSMUST00000121787]
[ENSMUST00000154236]
[ENSMUST00000146923]
[ENSMUST00000168265]
[ENSMUST00000178969]
[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: D110G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045111 Gene: ENSMUSG00000038880 AA Change: D110G
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 |
noncoding transcript
Transcript: ENSMUST00000125532
|
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: 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: 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: 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: 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: 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: 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: 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 damaging
Transcript: ENSMUST00000154236
AA Change: D110G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120985 Gene: ENSMUSG00000038880 AA Change: D110G
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: ENSMUST00000156663
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150500
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
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: 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: ENSMUST00000139754
|
SMART Domains |
Protein: ENSMUSP00000118245 Gene: ENSMUSG00000073436
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.5239 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
T |
14: 47,301,754 (GRCm39) |
M252L |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably damaging |
Het |
|
Other mutations in Mrps34 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Mrps34
|
APN |
17 |
25,114,344 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCTGAAGCGCAGATTTCC -3'
(R):5'- TGGTACATGACTTGCTCGATTTCCC -3'
Sequencing Primer
(F):5'- AGATTCGCAGCTCTACGC -3'
(R):5'- GATTTCCCGAGCCGTATCC -3'
|
Posted On |
2013-08-06 |