Incidental Mutation 'R8352:Bola1'
ID 645550
Institutional Source Beutler Lab
Gene Symbol Bola1
Ensembl Gene ENSMUSG00000015943
Gene Name bolA family member 1
Synonyms 1810037G04Rik
MMRRC Submission 067733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 96103899-96107724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96104573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 7 (A7V)
Ref Sequence ENSEMBL: ENSMUSP00000016087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016087] [ENSMUST00000035371] [ENSMUST00000107099] [ENSMUST00000177442]
AlphaFold Q9D8S9
PDB Structure Solution structure of BolA1 protein from Mus musculus [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000016087
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016087
Gene: ENSMUSG00000015943
AA Change: A7V

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 38 114 4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035371
SMART Domains Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
Pfam:Sugar_tr 149 484 5.3e-30 PFAM
Pfam:MFS_1 168 483 1.6e-24 PFAM
Pfam:Pentapeptide_4 513 585 7.7e-11 PFAM
Pfam:MFS_1 561 739 3.9e-12 PFAM
Pfam:Sugar_tr 588 742 4.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107099
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102716
Gene: ENSMUSG00000015943
AA Change: A7V

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 38 114 4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177442
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943
AA Change: A7V

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:BolA 40 113 7.8e-33 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Actl7b T A 4: 56,740,251 (GRCm39) D369V probably damaging Het
Apc A G 18: 34,445,804 (GRCm39) D900G possibly damaging Het
Bud13 A G 9: 46,199,377 (GRCm39) N246S possibly damaging Het
Cdkal1 G A 13: 29,538,663 (GRCm39) P499S probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cntnap5c C T 17: 58,362,687 (GRCm39) R347W probably damaging Het
Cox8b T A 7: 140,478,929 (GRCm39) E62V probably null Het
Cyp2t4 G A 7: 26,857,162 (GRCm39) A342T probably benign Het
Cyp8b1 A G 9: 121,744,997 (GRCm39) Y112H probably damaging Het
Dlg5 G T 14: 24,241,261 (GRCm39) A212D probably damaging Het
Dnah7a T C 1: 53,466,986 (GRCm39) E3626G probably null Het
Dpys T C 15: 39,656,720 (GRCm39) E449G possibly damaging Het
Fam187a C A 11: 102,777,400 (GRCm39) C401* probably null Het
Fsip2 A T 2: 82,814,937 (GRCm39) I3557L probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
H2bc7 A G 13: 23,758,219 (GRCm39) V49A probably damaging Het
Ifi213 T C 1: 173,422,835 (GRCm39) K10R possibly damaging Het
Lrrfip1 T C 1: 90,926,541 (GRCm39) S8P probably benign Het
Morc2b T C 17: 33,356,476 (GRCm39) D432G probably damaging Het
Mrgpra4 T A 7: 47,631,425 (GRCm39) I59F probably damaging Het
Mttp A T 3: 137,818,374 (GRCm39) D361E probably damaging Het
Mysm1 A G 4: 94,863,510 (GRCm39) S28P probably damaging Het
Nrdc T A 4: 108,876,260 (GRCm39) V284D probably damaging Het
Nrip2 A T 6: 128,384,957 (GRCm39) D203V probably damaging Het
Oog4 A T 4: 143,164,047 (GRCm39) Y495N probably benign Het
Or52h1 A T 7: 103,829,103 (GRCm39) C171S probably damaging Het
Or52n4 A T 7: 104,293,736 (GRCm39) V281E possibly damaging Het
Or7g19 T A 9: 18,856,459 (GRCm39) L172M possibly damaging Het
Or8c11 A T 9: 38,289,647 (GRCm39) M151L probably benign Het
Pacrg T A 17: 10,795,523 (GRCm39) R146* probably null Het
Pcdh18 A T 3: 49,699,624 (GRCm39) M946K possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pign A G 1: 105,575,917 (GRCm39) I241T probably benign Het
Pik3cg A G 12: 32,243,639 (GRCm39) I944T probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp2r5c T A 12: 110,510,511 (GRCm39) F99L probably benign Het
Prex1 A T 2: 166,431,493 (GRCm39) N756K probably benign Het
Prex2 A T 1: 11,355,363 (GRCm39) M1555L probably benign Het
Prex2 T G 1: 11,355,364 (GRCm39) M1555R probably benign Het
Prl3c1 T A 13: 27,386,385 (GRCm39) D123E probably benign Het
Prr22 G A 17: 57,078,311 (GRCm39) G155R probably damaging Het
Rev3l A G 10: 39,698,899 (GRCm39) D1132G probably damaging Het
Rnf180 A T 13: 105,318,056 (GRCm39) F452Y probably damaging Het
Scn4b A T 9: 45,058,039 (GRCm39) I44F possibly damaging Het
Sirpb1b T A 3: 15,607,410 (GRCm39) I291L probably benign Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Tbc1d8 G T 1: 39,444,438 (GRCm39) R174S probably damaging Het
Tenm2 A G 11: 35,914,428 (GRCm39) F2370L probably damaging Het
Tfec T A 6: 16,844,202 (GRCm39) H115L probably damaging Het
Tnxb A T 17: 34,908,381 (GRCm39) T1345S probably damaging Het
Ttn T A 2: 76,568,831 (GRCm39) N27354I probably damaging Het
Unc13c A G 9: 73,838,290 (GRCm39) Y854H probably damaging Het
Utrn A T 10: 12,689,253 (GRCm39) W11R probably benign Het
Vmn2r26 A G 6: 124,016,577 (GRCm39) Q347R probably benign Het
Other mutations in Bola1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1728:Bola1 UTSW 3 96,104,426 (GRCm39) missense probably benign
R1784:Bola1 UTSW 3 96,104,426 (GRCm39) missense probably benign
R2165:Bola1 UTSW 3 96,104,517 (GRCm39) missense probably benign 0.00
R4960:Bola1 UTSW 3 96,104,370 (GRCm39) missense probably benign 0.00
R8306:Bola1 UTSW 3 96,104,517 (GRCm39) missense probably benign 0.00
R8350:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
R8351:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
R8450:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
R8451:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
R8452:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
R8476:Bola1 UTSW 3 96,104,573 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGTCCAACTGTGGGTTTTCTC -3'
(R):5'- TCAGCCAAAAGGACCAAGTTG -3'

Sequencing Primer
(F):5'- ACAGTGCCTCGTGGACCAAC -3'
(R):5'- AGTGCCCTTAGTGCCTAGC -3'
Posted On 2020-09-02