Mutagenetix > Incidental Mutations

Incidental Mutation 'R4620:Blvra'

345216

Institutional Source

Beutler Lab

Gene Symbol

Blvra

Ensembl Gene

ENSMUSG00000001999

Gene Name

biliverdin reductase A

Synonyms

0610006A11Rik, Blvr, 2500001N03Rik

MMRRC Submission

042008-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127070665-127097084 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127096965 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 287 (I287T)

Ref Sequence

ENSEMBL: ENSMUSP00000002064 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002064
AA Change: I287T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: I287T

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: 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

0.7671

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

99% (80/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,606	Y433*	probably null	Het
Apba2	C	T	7: 64,714,467	R331C	probably damaging	Het
Apod	T	C	16: 31,297,393	D173G	probably benign	Het
B3gnt5	A	T	16: 19,769,882	M284L	probably benign	Het
Birc6	A	C	17: 74,640,150	T2955P	probably benign	Het
Capn5	T	C	7: 98,129,371	Y347C	probably damaging	Het
Cdcp2	A	G	4: 107,106,730	E259G	probably damaging	Het
Cdh2	A	G	18: 16,648,608	V85A	probably benign	Het
Cdk5rap2	A	G	4: 70,266,706	I1169T	probably benign	Het
Cenpj	A	G	14: 56,535,454	V1043A	probably damaging	Het
Cfap54	T	A	10: 92,969,757	H1497L	probably benign	Het
Chat	A	G	14: 32,453,818	M95T	probably damaging	Het
Csmd1	T	C	8: 16,002,694		probably null	Het
Csmd3	T	C	15: 47,585,753	E3615G	probably benign	Het
Cyp2c68	A	T	19: 39,712,562		probably null	Het
Dll1	C	T	17: 15,370,566	A332T	probably benign	Het
Dmrta1	A	T	4: 89,688,784	Q159L	probably benign	Het
Eci3	A	T	13: 34,948,758	M212K	probably damaging	Het
Eml4	T	C	17: 83,461,533	F557L	probably benign	Het
Fat3	A	T	9: 15,996,894	V2604D	probably damaging	Het
Frem3	T	C	8: 80,668,957	V1871A	possibly damaging	Het
Gart	T	C	16: 91,625,433	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,423,098	I463V	probably benign	Het
H2-M3	C	A	17: 37,272,419	T257K	probably damaging	Het
Hdgf	A	G	3: 87,914,576	N166S	possibly damaging	Het
Hoxb3	A	T	11: 96,345,773	N226Y	probably damaging	Het
Itgav	T	C	2: 83,755,902	Y169H	probably benign	Het
Kalrn	T	G	16: 34,028,705	I426L	probably damaging	Het
Kcnh3	G	A	15: 99,234,101	V646M	probably damaging	Het
Kif6	T	C	17: 49,901,296	V735A	probably benign	Het
Krt2	T	A	15: 101,817,591	I171F	probably damaging	Het
Megf8	G	A	7: 25,355,098	A1880T	possibly damaging	Het
Miox	A	T	15: 89,336,121	Y172F	probably benign	Het
Myo18a	G	A	11: 77,817,947	R48H	possibly damaging	Het
Ndufb7	T	C	8: 83,566,858	S14P	probably damaging	Het
Npepps	A	T	11: 97,238,244	H371Q	probably damaging	Het
Olfr596	C	T	7: 103,309,958	T79I	probably benign	Het
Olfr672	T	A	7: 104,996,623	I94F	probably damaging	Het
Olfr876	A	G	9: 37,804,819	T303A	probably benign	Het
Olfr976	C	T	9: 39,956,909	V9M	probably damaging	Het
Orc5	A	T	5: 22,529,176	D203E	probably damaging	Het
Pappa	A	G	4: 65,327,028	T1518A	probably benign	Het
Pde6a	A	G	18: 61,262,492	D602G	probably damaging	Het
Pnliprp2	G	A	19: 58,762,286	V136I	possibly damaging	Het
Postn	A	C	3: 54,376,993	D627A	probably damaging	Het
Prpf39	T	C	12: 65,042,563	V25A	probably benign	Het
Pxdc1	A	G	13: 34,652,314	I41T	probably damaging	Het
Rab11fip1	T	A	8: 27,154,215	E514V	probably damaging	Het
Rag1	A	T	2: 101,643,680	H372Q	probably damaging	Het
Ranbp1	A	G	16: 18,240,104		probably benign	Het
Rexo5	A	G	7: 119,827,303	I317V	probably benign	Het
Rragc	A	G	4: 123,924,829	Q279R	probably damaging	Het
Sbf1	A	G	15: 89,306,926	S187P	probably damaging	Het
Senp3	T	A	11: 69,677,118	Y432F	probably benign	Het
Slfn5	G	A	11: 82,961,652	C868Y	probably damaging	Het
Sorcs2	C	T	5: 36,037,494	A722T	probably benign	Het
Sptb	A	T	12: 76,583,807	C2244*	probably null	Het
Srbd1	A	T	17: 86,109,265	F488L	probably benign	Het
Sucnr1	A	G	3: 60,086,769	I239M	possibly damaging	Het
Themis2	A	G	4: 132,786,022	W298R	probably damaging	Het
Tmem168	T	G	6: 13,594,953	N37T	probably benign	Het
Tmem62	A	G	2: 120,996,364		probably benign	Het
Tmprss15	T	C	16: 79,021,470	D524G	probably damaging	Het
Trav5-4	G	T	14: 53,704,396	M75I	probably benign	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Ubap2	C	T	4: 41,233,698	G64E	probably damaging	Het
Usp32	C	A	11: 85,059,127		probably null	Het
Wdfy3	A	T	5: 101,906,145	F1603Y	probably damaging	Het
Wdr63	A	T	3: 146,042,809	L850Q	probably damaging	Het
Xpo4	A	T	14: 57,630,325	L155Q	probably damaging	Het
Zbtb21	T	C	16: 97,949,892	T1092A	possibly damaging	Het
Zfp780b	A	T	7: 27,962,753	Y792*	probably null	Het

Other mutations in Blvra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03149:Blvra	APN	2	127082951	missense	probably damaging	1.00
R1084:Blvra	UTSW	2	127080653	missense	probably benign	0.00
R1932:Blvra	UTSW	2	127095148	missense	probably damaging	1.00
R2114:Blvra	UTSW	2	127086069	nonsense	probably null
R2115:Blvra	UTSW	2	127086069	nonsense	probably null
R2117:Blvra	UTSW	2	127086069	nonsense	probably null
R2122:Blvra	UTSW	2	127086897	missense	probably damaging	0.96
R3734:Blvra	UTSW	2	127090255	intron	probably benign
R3847:Blvra	UTSW	2	127095191	missense	probably damaging	0.96
R4110:Blvra	UTSW	2	127095155	missense	probably damaging	1.00
R4533:Blvra	UTSW	2	127090384	splice site	probably null
R4702:Blvra	UTSW	2	127092062	missense	probably benign	0.01
R5921:Blvra	UTSW	2	127087363	intron	probably benign
R6322:Blvra	UTSW	2	127080539	start gained	probably benign
R7474:Blvra	UTSW	2	127086849	missense	probably damaging	1.00
R7486:Blvra	UTSW	2	127087323	missense	unknown
R8188:Blvra	UTSW	2	127095127	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTTCAAATCTGGGTCCTTGG -3'
(R):5'- ACTTCAAGCTGTTCCACAAGAATG -3'

Sequencing Primer
(F):5'- TCCTTGGAGGAAGTGCCAAATG -3'
(R):5'- TATTCCTACAGGATGGCCCCAG -3'

Posted On

2015-09-25