Incidental Mutation 'IGL01649:Mrpl40'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl40
Ensembl Gene ENSMUSG00000022706
Gene Namemitochondrial ribosomal protein L40
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.940) question?
Stock #IGL01649
Quality Score
Chromosomal Location18872018-18876862 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18872579 bp
Amino Acid Change Glutamine to Arginine at position 127 (Q127R)
Ref Sequence ENSEMBL: ENSMUSP00000023391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000023391] [ENSMUST00000119273] [ENSMUST00000120532] [ENSMUST00000128321] [ENSMUST00000144609] [ENSMUST00000153397] [ENSMUST00000190050]
Predicted Effect probably benign
Transcript: ENSMUST00000004222
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702

WD40 1 44 1.56e-1 SMART
WD40 59 98 9.67e-7 SMART
WD40 120 159 3.58e-10 SMART
WD40 163 202 7.22e-6 SMART
WD40 212 254 9.17e1 SMART
WD40 257 313 1.54e0 SMART
WD40 319 356 2.86e0 SMART
low complexity region 405 412 N/A INTRINSIC
Pfam:HIRA_B 448 470 1.9e-10 PFAM
low complexity region 493 507 N/A INTRINSIC
low complexity region 540 556 N/A INTRINSIC
low complexity region 600 614 N/A INTRINSIC
low complexity region 626 641 N/A INTRINSIC
Pfam:Hira 761 960 2.9e-61 PFAM
low complexity region 979 989 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023391
AA Change: Q127R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: Q127R

Pfam:MRP-L28 45 199 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119273
AA Change: Q83R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706
AA Change: Q83R

Pfam:MRP-L28 1 155 6.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120532
SMART Domains Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702

WD40 15 54 9.67e-7 SMART
WD40 76 115 3.58e-10 SMART
WD40 119 158 7.22e-6 SMART
WD40 168 210 9.17e1 SMART
WD40 213 269 1.54e0 SMART
WD40 275 312 2.86e0 SMART
low complexity region 361 368 N/A INTRINSIC
Pfam:HIRA_B 404 427 1.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128321
Predicted Effect probably benign
Transcript: ENSMUST00000144609
Predicted Effect probably benign
Transcript: ENSMUST00000153397
SMART Domains Protein: ENSMUSP00000117944
Gene: ENSMUSG00000022702

Blast:WD40 1 40 1e-18 BLAST
SCOP:d1erja_ 7 33 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190050
SMART Domains Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908

low complexity region 26 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232123
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 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
4931429L15Rik A G 9: 46,305,818 S220P probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Glb1 A G 9: 114,423,948 Y73C probably damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Kiz A G 2: 146,889,309 T240A probably benign Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sestd1 A G 2: 77,199,045 Y330H probably damaging Het
Sntg1 C T 1: 8,681,969 probably benign Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in Mrpl40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Mrpl40 APN 16 18872544 missense probably benign 0.02
R0524:Mrpl40 UTSW 16 18873552 missense possibly damaging 0.93
R1509:Mrpl40 UTSW 16 18875409 critical splice acceptor site probably null
R1876:Mrpl40 UTSW 16 18872474 missense probably benign 0.17
R2251:Mrpl40 UTSW 16 18875375 missense probably benign 0.03
R2252:Mrpl40 UTSW 16 18875375 missense probably benign 0.03
R2428:Mrpl40 UTSW 16 18872375 missense probably damaging 0.98
R4512:Mrpl40 UTSW 16 18872558 missense probably benign 0.02
R5877:Mrpl40 UTSW 16 18872385 missense probably damaging 1.00
Posted On2014-01-21