Incidental Mutation 'R5768:Grpel1'
ID 446377
Institutional Source Beutler Lab
Gene Symbol Grpel1
Ensembl Gene ENSMUSG00000029198
Gene Name GrpE-like 1, mitochondrial
Synonyms mt-GrpE#1
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R5768 (G1)
Quality Score 173
Status Not validated
Chromosome 5
Chromosomal Location 36622529-36631421 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 36622503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031099]
AlphaFold Q99LP6
Predicted Effect probably benign
Transcript: ENSMUST00000031099
SMART Domains Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:GrpE 32 215 5.3e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000044964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151434
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign Het
Other mutations in Grpel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Grpel1 APN 5 36,627,986 (GRCm39) missense probably damaging 1.00
R3689:Grpel1 UTSW 5 36,626,769 (GRCm39) splice site probably null
R3826:Grpel1 UTSW 5 36,626,827 (GRCm39) missense probably benign 0.14
R3827:Grpel1 UTSW 5 36,626,827 (GRCm39) missense probably benign 0.14
R3829:Grpel1 UTSW 5 36,626,827 (GRCm39) missense probably benign 0.14
R3830:Grpel1 UTSW 5 36,626,827 (GRCm39) missense probably benign 0.14
R4416:Grpel1 UTSW 5 36,628,616 (GRCm39) missense probably damaging 1.00
R5751:Grpel1 UTSW 5 36,626,811 (GRCm39) missense probably benign 0.03
R5997:Grpel1 UTSW 5 36,622,592 (GRCm39) missense probably benign
R6764:Grpel1 UTSW 5 36,622,569 (GRCm39) missense probably benign
R7760:Grpel1 UTSW 5 36,627,986 (GRCm39) missense probably damaging 0.97
R8066:Grpel1 UTSW 5 36,626,889 (GRCm39) missense probably benign 0.04
R8441:Grpel1 UTSW 5 36,622,556 (GRCm39) missense probably benign
R8881:Grpel1 UTSW 5 36,626,816 (GRCm39) missense possibly damaging 0.63
R9094:Grpel1 UTSW 5 36,626,823 (GRCm39) missense probably benign 0.11
R9323:Grpel1 UTSW 5 36,628,007 (GRCm39) missense possibly damaging 0.94
Z1088:Grpel1 UTSW 5 36,627,958 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-11-21