Incidental Mutation 'R4586:Mrpl43'
ID 344154
Institutional Source Beutler Lab
Gene Symbol Mrpl43
Ensembl Gene ENSMUSG00000025208
Gene Name mitochondrial ribosomal protein L43
Synonyms 4930442D21Rik, bMRP36a
MMRRC Submission 041807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R4586 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44993584-44994860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44994328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 97 (I97T)
Ref Sequence ENSEMBL: ENSMUSP00000095322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000026227] [ENSMUST00000097715] [ENSMUST00000130549] [ENSMUST00000179305]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026225
SMART Domains Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026227
SMART Domains Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209

DomainStartEndE-ValueType
low complexity region 213 224 N/A INTRINSIC
Blast:TOPRIM 260 331 8e-16 BLAST
Pfam:AAA_25 377 565 5.6e-25 PFAM
Pfam:DnaB_C 390 631 6.7e-17 PFAM
Pfam:KaiC 394 628 2.6e-11 PFAM
low complexity region 650 661 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097715
AA Change: I97T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095322
Gene: ENSMUSG00000025208
AA Change: I97T

DomainStartEndE-ValueType
L51_S25_CI-B8 35 108 1.61e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130549
SMART Domains Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179305
SMART Domains Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Sema 56 487 2.38e-165 SMART
PSI 505 556 6.59e-13 SMART
IG 567 649 6.26e-5 SMART
low complexity region 650 666 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
low complexity region 701 708 N/A INTRINSIC
low complexity region 713 720 N/A INTRINSIC
low complexity region 734 751 N/A INTRINSIC
low complexity region 761 774 N/A INTRINSIC
Meta Mutation Damage Score 0.8590 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (96/96)
MGI Phenotype FUNCTION: 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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Aqr T C 2: 113,943,058 (GRCm39) T1172A probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Atrn T C 2: 130,823,962 (GRCm39) F967S probably damaging Het
Btnl1 A G 17: 34,601,436 (GRCm39) D323G probably damaging Het
Cadps C A 14: 12,505,808 (GRCm38) C754F probably damaging Het
Catspere2 A G 1: 177,950,351 (GRCm39) D734G possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Cfap298 A T 16: 90,724,314 (GRCm39) V136D probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Clca3a1 C A 3: 144,722,619 (GRCm39) C251F probably damaging Het
Cldn16 A T 16: 26,296,308 (GRCm39) T95S probably benign Het
Cntnap4 C T 8: 113,537,342 (GRCm39) H738Y probably benign Het
Col8a2 A T 4: 126,204,812 (GRCm39) probably benign Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cyp4a12a T C 4: 115,184,509 (GRCm39) F295L probably benign Het
Cyp4a12b T G 4: 115,289,703 (GRCm39) M190R probably damaging Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Ddx27 T A 2: 166,861,904 (GRCm39) D135E probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dnajc10 T G 2: 80,178,122 (GRCm39) F710V probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Dnmt1 G A 9: 20,837,989 (GRCm39) P242S probably benign Het
Dync1h1 G A 12: 110,615,917 (GRCm39) D3022N probably benign Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 T C 18: 6,449,138 (GRCm39) N453S possibly damaging Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Fig4 A C 10: 41,064,628 (GRCm39) S872A probably damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gprc5a T A 6: 135,060,450 (GRCm39) M313K probably benign Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
H2-T3 T C 17: 36,500,236 (GRCm39) probably null Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Hook3 T G 8: 26,522,039 (GRCm39) K679T probably damaging Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Jmjd7 T A 2: 119,862,649 (GRCm39) M306K probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Kmo T A 1: 175,478,138 (GRCm39) M208K probably damaging Het
Kmo G T 1: 175,478,139 (GRCm39) M208I possibly damaging Het
Masp2 A G 4: 148,698,358 (GRCm39) T480A probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ncam2 T A 16: 81,262,457 (GRCm39) H303Q probably benign Het
Ntaq1 A T 15: 58,011,740 (GRCm39) I34F probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Pno1 T C 11: 17,161,438 (GRCm39) K24E probably benign Het
Qdpr T A 5: 45,596,669 (GRCm39) N165I possibly damaging Het
Robo2 A G 16: 73,758,761 (GRCm39) V674A probably damaging Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Samd11 A G 4: 156,333,889 (GRCm39) L174P probably damaging Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx25 A T 8: 46,569,474 (GRCm39) probably benign Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Stt3a T A 9: 36,653,089 (GRCm39) Q531L probably damaging Het
Tcl1 A C 12: 105,183,767 (GRCm39) probably benign Het
Trip11 A T 12: 101,849,600 (GRCm39) M1488K possibly damaging Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Ulk3 C T 9: 57,501,593 (GRCm39) L425F possibly damaging Het
Vmn1r238 T A 18: 3,123,294 (GRCm39) K40M probably damaging Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly damaging Het
Zfp846 G T 9: 20,504,809 (GRCm39) C223F probably damaging Het
Other mutations in Mrpl43
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0555:Mrpl43 UTSW 19 44,994,391 (GRCm39) unclassified probably benign
R1162:Mrpl43 UTSW 19 44,994,797 (GRCm39) missense possibly damaging 0.94
R2975:Mrpl43 UTSW 19 44,994,498 (GRCm39) splice site probably null
R4151:Mrpl43 UTSW 19 44,994,175 (GRCm39) missense possibly damaging 0.51
R4345:Mrpl43 UTSW 19 44,994,549 (GRCm39) missense probably damaging 1.00
R9786:Mrpl43 UTSW 19 44,994,346 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCAAAGCGCCTGGTTCTTTAC -3'
(R):5'- GAATAGTGGCCGAATACCGTG -3'

Sequencing Primer
(F):5'- ACTGTGCTTGCATCGAAGC -3'
(R):5'- TGGCCGAATACCGTGAGTGG -3'
Posted On 2015-09-24