Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Blvra'

277413

Institutional Source

Beutler Lab

Gene Symbol

Blvra

Ensembl Gene

ENSMUSG00000001999

Gene Name

biliverdin reductase A

Synonyms

0610006A11Rik, 2500001N03Rik, Blvr

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

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

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126912585-126939004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126937111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 188 (T188I)

Ref Sequence

ENSEMBL: ENSMUSP00000002064 (fasta)

Gene Model

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

AlphaFold

Q9CY64

Predicted Effect

probably damaging
Transcript: ENSMUST00000002064
AA Change: T188I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: T188I

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: 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

Meta Mutation Damage Score

0.2602

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,190 (GRCm39)		probably null	Het
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,374,557 (GRCm39)	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Septin11	G	T	5: 93,310,026 (GRCm39)	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		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
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
R6322:Blvra	UTSW	2	126,922,459 (GRCm39)	start gained	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

PCR Primer
(F):5'- GAGGCGAGATGTCCTTTTCTC -3'
(R):5'- GCAGTAGTTCTCCTGACAGG -3'

Sequencing Primer
(F):5'- AGGCGAGATGTCCTTTTCTCAGATC -3'
(R):5'- TCCTGACAGGAGCAGGCAC -3'

Posted On

2015-04-06