Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Blvrb'

293703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Blvrb

Ensembl Gene

ENSMUSG00000040466

Gene Name

biliverdin reductase B (flavin reductase (NADPH))

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

27447978-27466144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27459340 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Blvrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0729:Blvrb	UTSW	7	27448130	missense	possibly damaging	0.91
R2364:Blvrb	UTSW	7	27448133	missense	possibly damaging	0.68
R2377:Blvrb	UTSW	7	27459599	missense	probably damaging	1.00
R5021:Blvrb	UTSW	7	27448118	start codon destroyed	probably benign	0.11
R5374:Blvrb	UTSW	7	27465846	missense	possibly damaging	0.86
R5607:Blvrb	UTSW	7	27459469	missense	probably benign	0.01
R5608:Blvrb	UTSW	7	27459469	missense	probably benign	0.01
R6026:Blvrb	UTSW	7	27462690	missense	probably damaging	1.00
R6122:Blvrb	UTSW	7	27459348	missense	possibly damaging	0.90
R6523:Blvrb	UTSW	7	27465717	splice site	probably null
R7605:Blvrb	UTSW	7	27465793	missense	probably damaging	1.00
R7888:Blvrb	UTSW	7	27465734	missense	probably damaging	1.00

Posted On

2015-04-16