Incidental Mutation 'IGL01481:Mrps34'
ID |
88632 |
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 # |
IGL01481
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25114094-25115263 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 25116310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024978]
[ENSMUST00000043907]
[ENSMUST00000088345]
[ENSMUST00000115228]
[ENSMUST00000115229]
[ENSMUST00000117509]
[ENSMUST00000119115]
[ENSMUST00000120035]
[ENSMUST00000119848]
[ENSMUST00000121542]
[ENSMUST00000121787]
[ENSMUST00000121723]
[ENSMUST00000139754]
[ENSMUST00000146923]
[ENSMUST00000154236]
[ENSMUST00000178969]
|
AlphaFold |
Q9JIK9 |
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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000125532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127293
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140688
|
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: 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: 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: 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: 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: ENSMUST00000139754
|
SMART Domains |
Protein: ENSMUSP00000118245 Gene: ENSMUSG00000073436
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150500
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156663
|
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,910,079 (GRCm39) |
S523C |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,867,450 (GRCm39) |
D798E |
possibly damaging |
Het |
Arhgef7 |
G |
T |
8: 11,865,256 (GRCm39) |
V410L |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Cldn17 |
A |
G |
16: 88,303,471 (GRCm39) |
V86A |
probably benign |
Het |
Clec4a2 |
A |
G |
6: 123,119,459 (GRCm39) |
N237S |
probably benign |
Het |
Cmtr1 |
T |
G |
17: 29,917,631 (GRCm39) |
I654S |
probably benign |
Het |
Cryzl2 |
G |
A |
1: 157,298,309 (GRCm39) |
|
probably null |
Het |
Ctif |
A |
G |
18: 75,744,855 (GRCm39) |
|
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,945,572 (GRCm39) |
I307N |
probably damaging |
Het |
Drosha |
A |
T |
15: 12,842,525 (GRCm39) |
T399S |
probably benign |
Het |
Eef2k |
A |
T |
7: 120,494,441 (GRCm39) |
Y35F |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,089,410 (GRCm39) |
S193P |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,025 (GRCm39) |
I7T |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,805,100 (GRCm39) |
N1247K |
probably damaging |
Het |
Gipr |
T |
C |
7: 18,893,431 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
C |
T |
12: 52,002,208 (GRCm39) |
G243S |
probably damaging |
Het |
Hivep2 |
G |
A |
10: 14,024,981 (GRCm39) |
R2265Q |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,882,174 (GRCm39) |
S1073P |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,724,009 (GRCm39) |
S514P |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,694,492 (GRCm39) |
|
probably null |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Itih5 |
A |
C |
2: 10,195,100 (GRCm39) |
Q164P |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,750,215 (GRCm39) |
E1045D |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,168,951 (GRCm39) |
V1374A |
possibly damaging |
Het |
Nadsyn1 |
T |
C |
7: 143,366,321 (GRCm39) |
D191G |
probably damaging |
Het |
Nlrc3 |
T |
G |
16: 3,781,769 (GRCm39) |
N563H |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10g6 |
T |
C |
9: 39,934,574 (GRCm39) |
M295T |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,870 (GRCm39) |
L195P |
probably damaging |
Het |
Or52u1 |
C |
A |
7: 104,237,067 (GRCm39) |
P36T |
probably damaging |
Het |
Pdgfd |
C |
A |
9: 6,337,271 (GRCm39) |
T195K |
probably null |
Het |
Ptprz1 |
C |
A |
6: 22,999,979 (GRCm39) |
Q690K |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,430,903 (GRCm39) |
M23K |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,438,260 (GRCm39) |
R1869C |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,931,639 (GRCm39) |
|
probably null |
Het |
Sec61a1 |
A |
G |
6: 88,483,829 (GRCm39) |
V354A |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,769,431 (GRCm39) |
I246V |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,947,450 (GRCm39) |
D250Y |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,460,273 (GRCm39) |
N1435D |
probably benign |
Het |
Sspo |
A |
G |
6: 48,425,449 (GRCm39) |
I23M |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,858 (GRCm39) |
T274S |
probably damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,787,572 (GRCm39) |
L107P |
possibly damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tmem45a2 |
T |
A |
16: 56,867,375 (GRCm39) |
I109F |
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tox |
T |
A |
4: 6,842,396 (GRCm39) |
T45S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,872,250 (GRCm39) |
D395N |
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 |
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 |
2013-11-18 |