Incidental Mutation 'R5425:Bola3'
ID 501019
Institutional Source Beutler Lab
Gene Symbol Bola3
Ensembl Gene ENSMUSG00000045160
Gene Name bolA family member 3
Synonyms 1810056O20Rik
MMRRC Submission 042991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R5425 (G1)
Quality Score 90
Status Not validated
Chromosome 6
Chromosomal Location 83326129-83337118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83326534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 18 (G18W)
Ref Sequence ENSEMBL: ENSMUSP00000118348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120040] [ENSMUST00000122216] [ENSMUST00000136501]
AlphaFold Q8CEI1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000055875
Predicted Effect probably benign
Transcript: ENSMUST00000120040
SMART Domains Protein: ENSMUSP00000112582
Gene: ENSMUSG00000045160

DomainStartEndE-ValueType
Pfam:BolA 60 135 4.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122216
SMART Domains Protein: ENSMUSP00000113439
Gene: ENSMUSG00000045160

DomainStartEndE-ValueType
Pfam:BolA 26 94 7.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134765
Predicted Effect probably benign
Transcript: ENSMUST00000136501
AA Change: G18W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118348
Gene: ENSMUSG00000045160
AA Change: G18W

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:BolA 41 109 4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151329
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Ccnd2 A G 6: 127,127,580 (GRCm39) Y53H probably benign Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Faah A T 4: 115,857,993 (GRCm39) M436K probably null Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
H2-T5 A C 17: 36,479,377 (GRCm39) L8R probably damaging Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mcrs1 C A 15: 99,141,569 (GRCm39) R376L probably damaging Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Nck2 T G 1: 43,593,552 (GRCm39) V253G probably benign Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q probably benign Het
Other mutations in Bola3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2967:Bola3 UTSW 6 83,326,280 (GRCm39) missense probably benign 0.00
R3975:Bola3 UTSW 6 83,328,249 (GRCm39) missense probably benign 0.03
R3976:Bola3 UTSW 6 83,328,249 (GRCm39) missense probably benign 0.03
R8845:Bola3 UTSW 6 83,335,154 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGGGGTATTTAGGGGAC -3'
(R):5'- TTATGGAACTGTCTCCCGATCCG -3'

Sequencing Primer
(F):5'- AACGCCCATGTTTGCAGGTG -3'
(R):5'- GATCCGCCTAAGTCCAGTAGC -3'
Posted On 2017-12-01