Incidental Mutation 'IGL02452:Blvrb'
ID 293703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blvrb
Ensembl Gene ENSMUSG00000040466
Gene Name biliverdin reductase B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02452
Quality Score
Status
Chromosome 7
Chromosomal Location 27147403-27165406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27158765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000043092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358] [ENSMUST00000133750]
AlphaFold Q923D2
Predicted Effect possibly damaging
Transcript: ENSMUST00000037399
AA Change: V55A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: V55A

DomainStartEndE-ValueType
Pfam:Epimerase 6 155 9.1e-9 PFAM
Pfam:NAD_binding_10 6 191 6e-33 PFAM
Pfam:NmrA 6 205 5.8e-12 PFAM
Pfam:3Beta_HSD 7 122 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108357
SMART Domains Protein: ENSMUSP00000103994
Gene: ENSMUSG00000040466

DomainStartEndE-ValueType
Pfam:NAD_binding_10 2 105 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108358
AA Change: V55A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: V55A

DomainStartEndE-ValueType
Pfam:NmrA 6 84 1.1e-8 PFAM
low complexity region 85 119 N/A INTRINSIC
SCOP:d1hdoa_ 150 246 9e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133750
AA Change: V55A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153644
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,647,607 (GRCm39) V11F probably damaging Het
Alk A T 17: 72,209,620 (GRCm39) Y941* probably null Het
Blm A T 7: 80,153,125 (GRCm39) probably null Het
Cdh23 T A 10: 60,153,721 (GRCm39) T2288S probably damaging Het
Csnk1g1 T A 9: 65,915,067 (GRCm39) M242K probably damaging Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Cyp2d26 T A 15: 82,676,827 (GRCm39) H173L probably benign Het
Cyp2g1 T A 7: 26,510,871 (GRCm39) S131T probably benign Het
Dusp29 G A 14: 21,752,990 (GRCm39) T52I probably damaging Het
Dzip3 T A 16: 48,758,900 (GRCm39) probably benign Het
Espl1 T C 15: 102,208,274 (GRCm39) S427P probably damaging Het
Fasn A T 11: 120,699,006 (GRCm39) D2424E probably benign Het
Flrt2 G A 12: 95,746,257 (GRCm39) M198I probably benign Het
Gen1 A T 12: 11,292,576 (GRCm39) S404R probably benign Het
Gm11596 A T 11: 99,683,806 (GRCm39) C105S unknown Het
Hdlbp A T 1: 93,345,233 (GRCm39) V714D probably damaging Het
Igkv4-80 A G 6: 68,993,816 (GRCm39) V25A probably benign Het
Igkv8-27 C T 6: 70,148,925 (GRCm39) W76* probably null Het
Ikzf1 T C 11: 11,698,545 (GRCm39) L132P probably damaging Het
Kcna6 C A 6: 126,715,443 (GRCm39) C482F possibly damaging Het
Lhx9 A T 1: 138,769,580 (GRCm39) L47Q probably damaging Het
Lrp4 T A 2: 91,304,347 (GRCm39) D175E probably damaging Het
Lrrtm3 T C 10: 63,923,815 (GRCm39) K451E probably damaging Het
Mcm9 C T 10: 53,417,653 (GRCm39) V17M probably damaging Het
Mios T A 6: 8,222,492 (GRCm39) S475R probably benign Het
Mmp24 C T 2: 155,657,708 (GRCm39) R533C probably damaging Het
Moxd1 C T 10: 24,158,650 (GRCm39) P435S probably damaging Het
Mta2 T A 19: 8,927,670 (GRCm39) I497N probably benign Het
Mtus2 T C 5: 148,014,473 (GRCm39) V422A probably benign Het
Ndufaf1 A T 2: 119,486,907 (GRCm39) F260Y probably damaging Het
Nfasc C T 1: 132,548,662 (GRCm39) probably null Het
Nid1 A T 13: 13,683,305 (GRCm39) T1128S probably benign Het
Odad2 C T 18: 7,129,461 (GRCm39) E906K probably damaging Het
Or51f1d A G 7: 102,701,138 (GRCm39) D211G probably benign Het
Pcdh12 G A 18: 38,414,746 (GRCm39) P793L probably benign Het
Pclo A T 5: 14,726,980 (GRCm39) probably benign Het
Prpf31 T A 7: 3,637,185 (GRCm39) N161K possibly damaging Het
Prpf6 T G 2: 181,290,878 (GRCm39) N656K probably benign Het
Ptprn T A 1: 75,234,813 (GRCm39) H258L probably benign Het
Rab19 A G 6: 39,366,732 (GRCm39) T216A probably benign Het
Ryr3 A C 2: 112,664,335 (GRCm39) L1652W probably damaging Het
Six2 A C 17: 85,992,806 (GRCm39) S232R possibly damaging Het
Spag17 T C 3: 99,934,707 (GRCm39) V663A probably benign Het
Spag5 A G 11: 78,195,449 (GRCm39) N252S probably benign Het
Spata31e4 A T 13: 50,857,113 (GRCm39) H917L probably damaging Het
Sptb C T 12: 76,655,810 (GRCm39) probably null Het
Synj1 A G 16: 90,758,253 (GRCm39) probably benign Het
Tekt2 T C 4: 126,218,645 (GRCm39) H36R possibly damaging Het
Tjp1 A T 7: 64,962,403 (GRCm39) M1258K probably damaging Het
Txnrd3 T C 6: 89,651,777 (GRCm39) *502Q probably null Het
Other mutations in Blvrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0729:Blvrb UTSW 7 27,147,555 (GRCm39) missense possibly damaging 0.91
R2364:Blvrb UTSW 7 27,147,558 (GRCm39) missense possibly damaging 0.68
R2377:Blvrb UTSW 7 27,159,024 (GRCm39) missense probably damaging 1.00
R5021:Blvrb UTSW 7 27,147,543 (GRCm39) start codon destroyed probably benign 0.11
R5374:Blvrb UTSW 7 27,165,271 (GRCm39) missense possibly damaging 0.86
R5607:Blvrb UTSW 7 27,158,894 (GRCm39) missense probably benign 0.01
R5608:Blvrb UTSW 7 27,158,894 (GRCm39) missense probably benign 0.01
R6026:Blvrb UTSW 7 27,162,115 (GRCm39) missense probably damaging 1.00
R6122:Blvrb UTSW 7 27,158,773 (GRCm39) missense possibly damaging 0.90
R6523:Blvrb UTSW 7 27,165,142 (GRCm39) splice site probably null
R7605:Blvrb UTSW 7 27,165,218 (GRCm39) missense probably damaging 1.00
R7888:Blvrb UTSW 7 27,165,159 (GRCm39) missense probably damaging 1.00
R9135:Blvrb UTSW 7 27,165,210 (GRCm39) missense probably damaging 1.00
R9374:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
R9551:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
R9552:Blvrb UTSW 7 27,158,786 (GRCm39) missense probably benign 0.16
Posted On 2015-04-16