Incidental Mutation 'R3826:Grpel1'
ID 275397
Institutional Source Beutler Lab
Gene Symbol Grpel1
Ensembl Gene ENSMUSG00000029198
Gene Name GrpE-like 1, mitochondrial
Synonyms mt-GrpE#1
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R3826 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36622529-36631421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36626827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 36 (N36K)
Ref Sequence ENSEMBL: ENSMUSP00000031099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031097] [ENSMUST00000031099]
AlphaFold Q99LP6
Predicted Effect probably benign
Transcript: ENSMUST00000031097
SMART Domains Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196

DomainStartEndE-ValueType
ZnF_ZZ 3 46 2.64e-5 SMART
SANT 66 116 1.75e-9 SMART
low complexity region 138 154 N/A INTRINSIC
low complexity region 233 260 N/A INTRINSIC
low complexity region 306 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031099
AA Change: N36K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198
AA Change: N36K

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,896 (GRCm39) S197T possibly damaging Het
Actl6b T C 5: 137,565,535 (GRCm39) L377P probably damaging Het
Apc C A 18: 34,412,388 (GRCm39) Q236K possibly damaging Het
Atn1 G A 6: 124,723,182 (GRCm39) probably benign Het
Ccr3 A G 9: 123,829,714 (GRCm39) T350A possibly damaging Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Chd2 A G 7: 73,141,163 (GRCm39) Y577H possibly damaging Het
Col1a2 A G 6: 4,516,960 (GRCm39) probably benign Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dlec1 T C 9: 118,972,129 (GRCm39) probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Ffar2 A T 7: 30,519,510 (GRCm39) I10N possibly damaging Het
Gas2 T C 7: 51,586,367 (GRCm39) probably null Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hgfac C A 5: 35,205,506 (GRCm39) D595E probably damaging Het
Kcnj10 A T 1: 172,197,616 (GRCm39) S377C probably damaging Het
Kcnq2 C T 2: 180,746,693 (GRCm39) V369I possibly damaging Het
Kcnt1 T C 2: 25,805,880 (GRCm39) probably null Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Mcts1 T C X: 37,691,445 (GRCm39) probably benign Het
Muc21 A G 17: 35,932,504 (GRCm39) probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or5t17 T A 2: 86,832,388 (GRCm39) I25K probably damaging Het
Or9g4b C T 2: 85,616,559 (GRCm39) R235* probably null Het
Panx2 A G 15: 88,952,664 (GRCm39) D377G probably damaging Het
Pcdhb10 C A 18: 37,545,470 (GRCm39) T182N probably damaging Het
Pdha2 G T 3: 140,916,889 (GRCm39) F206L possibly damaging Het
Pgd T C 4: 149,250,461 (GRCm39) probably benign Het
Pgs1 C T 11: 117,910,584 (GRCm39) probably null Het
Rere T C 4: 150,554,785 (GRCm39) V161A probably benign Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Rubcnl C T 14: 75,269,665 (GRCm39) L108F possibly damaging Het
Sap18b T C 8: 96,552,185 (GRCm39) F65S probably damaging Het
Scap A G 9: 110,210,365 (GRCm39) M925V probably benign Het
Slc7a8 A G 14: 54,975,029 (GRCm39) I200T probably damaging Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Trio T A 15: 27,833,156 (GRCm39) K75N probably damaging Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably damaging Het
Zfp37 T C 4: 62,110,800 (GRCm39) N88S probably benign Het
Zswim8 C T 14: 20,761,157 (GRCm39) R142* probably null 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
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
R5768:Grpel1 UTSW 5 36,622,503 (GRCm39) start gained probably benign
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 PCR Primer
(F):5'- GAAGGGCTTGCATATCTGTACAATG -3'
(R):5'- TGTGAACTTGGCCCATGCAG -3'

Sequencing Primer
(F):5'- CATGTGGGTCCTGCAAATAGAACTC -3'
(R):5'- CAGGCAGCAATCCAGCAGTG -3'
Posted On 2015-04-02