Incidental Mutation 'R7888:Blvrb'
ID 609156
Institutional Source Beutler Lab
Gene Symbol Blvrb
Ensembl Gene ENSMUSG00000040466
Gene Name biliverdin reductase B
Synonyms
MMRRC Submission 045940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7888 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 27147403-27165406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27165159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000043092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358]
AlphaFold Q923D2
Predicted Effect probably damaging
Transcript: ENSMUST00000037399
AA Change: T160A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: T160A

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 damaging
Transcript: ENSMUST00000108357
AA Change: T74A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103994
Gene: ENSMUSG00000040466
AA Change: T74A

DomainStartEndE-ValueType
Pfam:NAD_binding_10 2 105 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108358
AA Change: T201A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: T201A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 G T 14: 8,246,415 (GRCm38) Q459K probably benign Het
Ano3 T A 2: 110,496,773 (GRCm39) Y792F probably damaging Het
Aoc3 C T 11: 101,223,323 (GRCm39) H520Y probably damaging Het
Atp4b A G 8: 13,439,811 (GRCm39) F137S probably damaging Het
Brd2 G A 17: 34,335,995 (GRCm39) R73W probably damaging Het
Btaf1 A G 19: 36,943,036 (GRCm39) T306A probably benign Het
Ccdc154 G A 17: 25,383,578 (GRCm39) V212M possibly damaging Het
Ccdc40 A G 11: 119,119,967 (GRCm39) E3G unknown Het
Cenpb T A 2: 131,021,762 (GRCm39) E12V probably damaging Het
Cnot8 T C 11: 58,002,137 (GRCm39) S57P probably benign Het
Cryba4 T C 5: 112,398,918 (GRCm39) E42G probably benign Het
Fam72a T A 1: 131,456,578 (GRCm39) I47N probably damaging Het
Gm27027 A C 2: 93,787,880 (GRCm39) probably null Het
Itgb2 T C 10: 77,400,478 (GRCm39) V697A probably benign Het
Jakmip1 A G 5: 37,262,208 (GRCm39) N336D probably damaging Het
Kansl1 T C 11: 104,233,248 (GRCm39) T760A probably benign Het
Lrrc37a T A 11: 103,392,307 (GRCm39) E1039D probably benign Het
Meaf6 T G 4: 125,003,213 (GRCm39) probably null Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Mtss1 A T 15: 58,844,373 (GRCm39) M82K probably damaging Het
Myo6 T C 9: 80,203,947 (GRCm39) S1063P probably damaging Het
Niban2 T A 2: 32,812,137 (GRCm39) Y406* probably null Het
Nsun6 T A 2: 15,001,355 (GRCm39) E400D probably benign Het
Or10al5 A T 17: 38,062,888 (GRCm39) N48Y probably damaging Het
Or1e26 T C 11: 73,480,354 (GRCm39) D70G probably damaging Het
Or1l4b A T 2: 37,036,334 (GRCm39) M37L probably benign Het
Or2t26 T C 11: 49,039,266 (GRCm39) Y61H probably damaging Het
Or52ae7 T A 7: 103,120,006 (GRCm39) Y253* probably null Het
Or5au1 A G 14: 52,273,347 (GRCm39) S74P probably damaging Het
Or8j3b C A 2: 86,205,270 (GRCm39) C162F probably benign Het
Pfdn5 T A 15: 102,237,024 (GRCm39) V92E probably damaging Het
Pik3c2g T C 6: 139,842,470 (GRCm39) V801A Het
Psme2b T A 11: 48,836,402 (GRCm39) T182S possibly damaging Het
Ptcd3 G A 6: 71,860,431 (GRCm39) A592V probably damaging Het
Rabgap1 T A 2: 37,427,319 (GRCm39) Y633* probably null Het
Rnf39 A T 17: 37,258,133 (GRCm39) T222S probably damaging Het
Scnn1g A G 7: 121,342,878 (GRCm39) N277S probably damaging Het
Slc16a13 T G 11: 70,109,806 (GRCm39) I232L possibly damaging Het
Slco2b1 T G 7: 99,338,050 (GRCm39) R111S unknown Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tmc3 T C 7: 83,249,217 (GRCm39) W269R probably damaging Het
Vmn2r4 T C 3: 64,313,943 (GRCm39) E346G probably damaging Het
Vps52 A G 17: 34,184,725 (GRCm39) N666S probably damaging Het
Wdfy4 C T 14: 32,812,920 (GRCm39) D1618N Het
Zfp773 C A 7: 7,135,978 (GRCm39) C206F probably benign Het
Other mutations in Blvrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Blvrb APN 7 27,158,765 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- TGATGAGTTAATATGGAAAGCCCC -3'
(R):5'- TCTCAGGATGCATGACCCTC -3'

Sequencing Primer
(F):5'- ACTGCTCTTCCAAAGGTCTGGAG -3'
(R):5'- TCCCCACCTAGGTCAGAGTG -3'
Posted On 2019-12-20