Incidental Mutation 'R3976:Bola3'
ID 312637
Institutional Source Beutler Lab
Gene Symbol Bola3
Ensembl Gene ENSMUSG00000045160
Gene Name bolA family member 3
Synonyms 1810056O20Rik
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R3976 (G1)
Quality Score 211
Status Validated
Chromosome 6
Chromosomal Location 83326129-83337118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83328249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 45 (L45P)
Ref Sequence ENSEMBL: ENSMUSP00000112582 (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
AA Change: L45P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000112582
Gene: ENSMUSG00000045160
AA Change: L45P

DomainStartEndE-ValueType
Pfam:BolA 60 135 4.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122216
AA Change: L4P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113439
Gene: ENSMUSG00000045160
AA Change: L4P

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: L19P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118348
Gene: ENSMUSG00000045160
AA Change: L19P

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
Meta Mutation Damage Score 0.1588 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxo16 T A 14: 65,524,606 (GRCm39) L42Q probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or2k2 A G 4: 58,785,164 (GRCm39) L186P probably damaging Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rab18 T A 18: 6,778,529 (GRCm39) D53E probably benign Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rhbg C A 3: 88,151,843 (GRCm39) G383V probably damaging Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L 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
R5425:Bola3 UTSW 6 83,326,534 (GRCm39) missense probably benign
R8845:Bola3 UTSW 6 83,335,154 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTAGGTAGTGAGCGCC -3'
(R):5'- AGTCATTGGGTCAAGTGCCC -3'

Sequencing Primer
(F):5'- CCTGCTCTGGCCCTTCAGG -3'
(R):5'- GGTCAAGTGCCCTCCTCATG -3'
Posted On 2015-04-30