Mutagenetix > Incidental Mutation

Incidental Mutation 'R6322:Blvra'

510140

Institutional Source

Beutler Lab

Gene Symbol

Blvra

Ensembl Gene

ENSMUSG00000001999

Gene Name

biliverdin reductase A

Synonyms

0610006A11Rik, 2500001N03Rik, Blvr

MMRRC Submission

044476-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126912585-126939004 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 126922459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002064] [ENSMUST00000110389] [ENSMUST00000135529] [ENSMUST00000142737]

AlphaFold

Q9CY64

Predicted Effect

probably benign
Transcript: ENSMUST00000002064

SMART Domains

Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	124	2.1e-22	PFAM
Pfam:Biliv-reduc_cat	132	244	2.6e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110389

SMART Domains

Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	123	9.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135529

SMART Domains

Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	123	1e-22	PFAM
transmembrane domain	125	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142737

SMART Domains

Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	9	124	4.7e-24	PFAM
Pfam:NAD_binding_3	15	122	1.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142861

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: This locus controls electrophoretic mobility of biliverdin reductase. The a allele determines a slowly migrating band in C3H/He, C57BL/H and 101/H; the b allele determines a fast band in BALB/c, CBA/Ca, TFH/H and SM/J. Heterozygotes have both parental bands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,559,843 (GRCm39)	V211A	probably benign	Het
Adora3	G	A	3: 105,814,760 (GRCm39)	R170H	probably benign	Het
Aldh1l1	T	C	6: 90,539,680 (GRCm39)	I203T	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Atcay	A	T	10: 81,049,125 (GRCm39)	I159K	probably damaging	Het
Catspere2	T	A	1: 177,845,296 (GRCm39)	Y105*	probably null	Het
Celsr2	A	G	3: 108,319,890 (GRCm39)	F974S	probably damaging	Het
Cfap44	C	T	16: 44,254,029 (GRCm39)	R918*	probably null	Het
Cpa6	T	A	1: 10,547,346 (GRCm39)	R181S	possibly damaging	Het
Dlg1	A	G	16: 31,675,297 (GRCm39)	N730D	probably damaging	Het
Eif2ak1	A	G	5: 143,835,913 (GRCm39)	T535A	probably benign	Het
Fam13c	A	T	10: 70,334,721 (GRCm39)	D149V	probably damaging	Het
Fam171a1	G	A	2: 3,227,392 (GRCm39)	V717I	probably benign	Het
Fchsd1	A	G	18: 38,098,753 (GRCm39)	V290A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15446	A	T	5: 110,091,383 (GRCm39)	H545L	probably damaging	Het
Heatr9	T	G	11: 83,407,538 (GRCm39)	K215T	possibly damaging	Het
Hfe	T	A	13: 23,889,879 (GRCm39)	H210L	probably damaging	Het
Lama2	T	C	10: 27,066,543 (GRCm39)	T1113A	probably damaging	Het
Lipe	A	T	7: 25,079,961 (GRCm39)	V686E	probably damaging	Het
Map3k20	T	G	2: 72,263,814 (GRCm39)	L488V	possibly damaging	Het
Moxd1	C	T	10: 24,160,709 (GRCm39)	T454I	probably damaging	Het
Mrpl58	C	T	11: 115,301,492 (GRCm39)	R189*	probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nkx1-1	T	C	5: 33,588,389 (GRCm39)	N300D	probably damaging	Het
Nrm	A	T	17: 36,175,605 (GRCm39)	Q237L	possibly damaging	Het
Numa1	T	C	7: 101,650,127 (GRCm39)	L1286P	probably damaging	Het
Or4f4-ps1	T	C	2: 111,329,729 (GRCm39)	F44S	possibly damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Pds5a	T	C	5: 65,854,177 (GRCm39)	I22V	probably benign	Het
Phf21b	C	A	15: 84,671,580 (GRCm39)	R438L	possibly damaging	Het
Pik3r5	T	C	11: 68,383,567 (GRCm39)	L462P	probably benign	Het
Plagl2	T	C	2: 153,073,806 (GRCm39)	E365G	probably benign	Het
Plxna2	A	G	1: 194,436,675 (GRCm39)	Y677C	possibly damaging	Het
Pramel13	A	G	4: 144,119,475 (GRCm39)	M364T	probably benign	Het
Prkcd	C	A	14: 30,321,620 (GRCm39)	G410W	probably damaging	Het
Rgl1	T	C	1: 152,428,186 (GRCm39)	I348V	probably damaging	Het
Rnmt	C	T	18: 68,452,285 (GRCm39)	P386S	probably damaging	Het
Rtn3	G	A	19: 7,435,503 (GRCm39)	P163L	possibly damaging	Het
Sfxn1	T	C	13: 54,258,869 (GRCm39)	C275R	possibly damaging	Het
Sh2b2	A	G	5: 136,253,042 (GRCm39)	S377P	probably damaging	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Simc1	T	C	13: 54,698,382 (GRCm39)	L1334S	probably damaging	Het
Slc9a2	C	A	1: 40,781,813 (GRCm39)	Y347*	probably null	Het
Snapc5	T	A	9: 64,089,455 (GRCm39)	I71K	probably damaging	Het
Tmem161a	T	C	8: 70,634,764 (GRCm39)	F447S	probably damaging	Het
Tns3	A	G	11: 8,442,147 (GRCm39)	C739R	probably benign	Het
Trappc11	A	T	8: 47,983,808 (GRCm39)	V28D	possibly damaging	Het
Ubr3	C	T	2: 69,786,429 (GRCm39)	Q848*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het

Other mutations in Blvra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03149:Blvra	APN	2	126,924,871 (GRCm39)	missense	probably damaging	1.00
R1084:Blvra	UTSW	2	126,922,573 (GRCm39)	missense	probably benign	0.00
R1932:Blvra	UTSW	2	126,937,068 (GRCm39)	missense	probably damaging	1.00
R2114:Blvra	UTSW	2	126,927,989 (GRCm39)	nonsense	probably null
R2115:Blvra	UTSW	2	126,927,989 (GRCm39)	nonsense	probably null
R2117:Blvra	UTSW	2	126,927,989 (GRCm39)	nonsense	probably null
R2122:Blvra	UTSW	2	126,928,817 (GRCm39)	missense	probably damaging	0.96
R3734:Blvra	UTSW	2	126,932,175 (GRCm39)	intron	probably benign
R3847:Blvra	UTSW	2	126,937,111 (GRCm39)	missense	probably damaging	0.96
R4110:Blvra	UTSW	2	126,937,075 (GRCm39)	missense	probably damaging	1.00
R4533:Blvra	UTSW	2	126,932,304 (GRCm39)	splice site	probably null
R4620:Blvra	UTSW	2	126,938,885 (GRCm39)	missense	probably damaging	1.00
R4702:Blvra	UTSW	2	126,933,982 (GRCm39)	missense	probably benign	0.01
R5921:Blvra	UTSW	2	126,929,283 (GRCm39)	intron	probably benign
R7474:Blvra	UTSW	2	126,928,769 (GRCm39)	missense	probably damaging	1.00
R7486:Blvra	UTSW	2	126,929,243 (GRCm39)	missense	unknown
R8188:Blvra	UTSW	2	126,937,047 (GRCm39)	missense	probably damaging	1.00
R9101:Blvra	UTSW	2	126,927,890 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-04-02