Incidental Mutation 'IGL02061:Mrpl23'
ID185415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl23
Ensembl Gene ENSMUSG00000037772
Gene Namemitochondrial ribosomal protein L23
SynonymsL23mrp, Rpl23l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL02061
Quality Score
Status
Chromosome7
Chromosomal Location142532686-142540747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 142540582 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 76 (P76S)
Ref Sequence ENSEMBL: ENSMUSP00000147311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038675] [ENSMUST00000210662] [ENSMUST00000210803]
Predicted Effect probably benign
Transcript: ENSMUST00000038675
AA Change: P121S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039784
Gene: ENSMUSG00000037772
AA Change: P121S

DomainStartEndE-ValueType
Pfam:Ribosomal_L23 29 107 1.3e-15 PFAM
low complexity region 116 133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209576
Predicted Effect probably benign
Transcript: ENSMUST00000210662
AA Change: P147S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000210803
AA Change: P76S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Mrpl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Mrpl23 APN 7 142536065 splice site probably benign
IGL02350:Mrpl23 APN 7 142536065 splice site probably benign
IGL02357:Mrpl23 APN 7 142536065 splice site probably benign
R0166:Mrpl23 UTSW 7 142535114 missense probably damaging 1.00
R5420:Mrpl23 UTSW 7 142536137 missense probably damaging 1.00
R6569:Mrpl23 UTSW 7 142535039 missense probably damaging 1.00
R7477:Mrpl23 UTSW 7 142537281 missense possibly damaging 0.95
Posted On2014-05-07