Incidental Mutation 'R5690:Mrpl45'
ID443641
Institutional Source Beutler Lab
Gene Symbol Mrpl45
Ensembl Gene ENSMUSG00000018882
Gene Namemitochondrial ribosomal protein L45
Synonyms
MMRRC Submission 043323-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #R5690 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location97315716-97329920 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to A at 97321586 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000019026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019026]
Predicted Effect probably benign
Transcript: ENSMUST00000019026
SMART Domains Protein: ENSMUSP00000019026
Gene: ENSMUSG00000018882

DomainStartEndE-ValueType
low complexity region 26 39 N/A INTRINSIC
low complexity region 43 55 N/A INTRINSIC
Tim44 118 266 3.7e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122313
Predicted Effect unknown
Transcript: ENSMUST00000132168
AA Change: Q118K
SMART Domains Protein: ENSMUSP00000116306
Gene: ENSMUSG00000018882
AA Change: Q118K

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
low complexity region 32 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008F13Rik G A 2: 156,865,314 V58I probably benign Het
2810474O19Rik T C 6: 149,328,237 L927S possibly damaging Het
4930533K18Rik A G 10: 70,923,314 probably benign Het
Acadl T C 1: 66,853,286 Y126C probably damaging Het
Ak6 A G 13: 100,655,621 probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,037,379 probably benign Het
Aqp7 G A 4: 41,035,510 T115I probably benign Het
Atp6v1e1 A T 6: 120,808,356 probably null Het
Axin1 A G 17: 26,194,937 Y792C probably damaging Het
C1s2 T C 6: 124,631,037 N233S probably benign Het
Ccer2 C A 7: 28,756,204 probably benign Het
Cfap46 A G 7: 139,638,353 S1481P probably benign Het
Cspg4 A T 9: 56,898,735 T2277S probably benign Het
Ctsl T A 13: 64,365,208 N300I probably damaging Het
Dnah2 T C 11: 69,491,544 I1247V probably benign Het
Dsg3 A T 18: 20,522,051 Q135L probably benign Het
Efcab14 G A 4: 115,760,047 V318M possibly damaging Het
Etl4 G A 2: 20,805,836 S910N probably benign Het
Fetub C T 16: 22,932,331 R143C probably damaging Het
Frmd4b T C 6: 97,353,203 E133G possibly damaging Het
Herc2 T C 7: 56,157,705 F2514S probably benign Het
Il18rap A G 1: 40,537,112 D261G possibly damaging Het
Klk1b16 A G 7: 44,140,894 probably null Het
Lrp1b A C 2: 40,750,894 probably null Het
Myh13 A G 11: 67,329,275 E150G probably damaging Het
Nbas T A 12: 13,336,284 V737D probably damaging Het
Ncr1 T C 7: 4,338,297 Y59H probably damaging Het
Nt5c1a T A 4: 123,215,939 V277E probably damaging Het
Ogfod1 T A 8: 94,058,141 S343T probably damaging Het
Otogl G A 10: 107,777,117 silent Het
Pcdhb18 G A 18: 37,490,484 R289Q probably benign Het
Pnpla1 A T 17: 28,878,372 I171F probably damaging Het
Rdh8 A G 9: 20,825,489 N259S probably damaging Het
Slc22a12 A G 19: 6,536,848 M496T probably benign Het
Slc8b1 G A 5: 120,513,205 W10* probably null Het
Smarcc2 G A 10: 128,484,407 G887S probably damaging Het
Smc1b A G 15: 85,112,773 S549P probably damaging Het
Synj2 A G 17: 6,035,527 M1181V probably benign Het
Tbx15 T C 3: 99,308,850 S76P probably damaging Het
Tbx2 A T 11: 85,837,053 I271F probably damaging Het
Thap4 A G 1: 93,716,630 probably null Het
Tmc2 A G 2: 130,232,386 Y333C probably damaging Het
Trcg1 C T 9: 57,241,811 P222L probably benign Het
Tubb3 T C 8: 123,421,306 V326A probably benign Het
Unc80 A C 1: 66,640,572 I2101L probably benign Het
Vmn1r19 T C 6: 57,404,795 L111S probably benign Het
Vps16 C T 2: 130,439,091 Q226* probably null Het
Xpo4 T C 14: 57,590,989 I805V probably benign Het
Other mutations in Mrpl45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Mrpl45 APN 11 97316921 missense probably benign 0.30
IGL03142:Mrpl45 APN 11 97315925 missense probably benign 0.00
R0321:Mrpl45 UTSW 11 97326938 splice site probably benign
R0589:Mrpl45 UTSW 11 97323888 missense probably benign 0.02
R1472:Mrpl45 UTSW 11 97323855 nonsense probably null
R1938:Mrpl45 UTSW 11 97315944 splice site probably null
R2105:Mrpl45 UTSW 11 97325747 missense probably benign 0.03
R5183:Mrpl45 UTSW 11 97316751 missense probably benign 0.02
R6372:Mrpl45 UTSW 11 97321562 critical splice donor site probably benign
Z1176:Mrpl45 UTSW 11 97321559 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATTAGTCCACCTTGTATGACC -3'
(R):5'- GCTAATGCCCTGTTCACACC -3'

Sequencing Primer
(F):5'- GACCACAAGATGATGTTGTCTAAGTC -3'
(R):5'- GACTTTTGGGATAGCATTGG -3'
Posted On2016-11-09