Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Blvrb'

439337

Institutional Source

Beutler Lab

Gene Symbol

Blvrb

Ensembl Gene

ENSMUSG00000040466

Gene Name

biliverdin reductase B

Synonyms

MMRRC Submission

043271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27147403-27165406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27158894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 98 (P98L)

Ref Sequence

ENSEMBL: ENSMUSP00000103995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358] [ENSMUST00000133750]

AlphaFold

Q923D2

Predicted Effect

probably benign
Transcript: ENSMUST00000037399

SMART Domains

Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466

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

probably benign
Transcript: ENSMUST00000108358
AA Change: P98L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: P98L

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

probably benign
Transcript: ENSMUST00000133750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153644

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,516,661 (GRCm39)	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,804,740 (GRCm39)	F851S	probably damaging	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,347,086 (GRCm39)	N1027I	probably benign	Het
Cacng4	A	T	11: 107,625,610 (GRCm39)	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143 (GRCm39)	V199A	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Ctnna1	A	G	18: 35,382,795 (GRCm39)	D647G	probably benign	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Exoc6	T	A	19: 37,566,977 (GRCm39)	V258D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	A	1: 174,437,377 (GRCm39)	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,283,326 (GRCm39)	T60A	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,676,869 (GRCm39)	Y428H	probably damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,771,227 (GRCm39)	V933A	probably damaging	Het
Nepn	A	T	10: 52,277,233 (GRCm39)	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,245 (GRCm39)	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,238,033 (GRCm39)	T199A	probably benign	Het
Obscn	T	G	11: 59,013,674 (GRCm39)	K1150Q	probably benign	Het
Or12j5	A	C	7: 140,084,318 (GRCm39)	V18G	probably benign	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or7a38	A	G	10: 78,752,933 (GRCm39)	I86M	possibly damaging	Het
Or7e170	T	A	9: 19,795,272 (GRCm39)	M110L	probably benign	Het
Otop1	G	A	5: 38,451,848 (GRCm39)	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,078,239 (GRCm39)	D494Y	probably damaging	Het
Pop5	G	A	5: 115,378,260 (GRCm39)	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,800,223 (GRCm39)	D518G	probably benign	Het
Preb	G	T	5: 31,117,307 (GRCm39)		probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rag1	G	A	2: 101,474,137 (GRCm39)	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,608,746 (GRCm39)	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,631,312 (GRCm39)	N649D	probably benign	Het
Smarcal1	A	G	1: 72,625,372 (GRCm39)	D173G	probably benign	Het
Smg7	A	G	1: 152,718,985 (GRCm39)	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,005,246 (GRCm39)	S796T	possibly damaging	Het
Tex14	A	G	11: 87,413,404 (GRCm39)	T1052A	probably benign	Het
Tspan1	A	G	4: 116,021,277 (GRCm39)	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,637,305 (GRCm39)	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Ubr2	G	T	17: 47,245,126 (GRCm39)	C1633*	probably null	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,805,318 (GRCm39)	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	Het

Other mutations in Blvrb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7888:Blvrb	UTSW	7	27,165,159 (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'- GTCCACAGGTTATGAGGTGAC -3'
(R):5'- AGTTCAGCCCCACTTCCATG -3'

Sequencing Primer
(F):5'- TGGTTCGAGACTCCAGCAG -3'
(R):5'- GAGGTGCAGGCCACGAC -3'

Posted On

2016-10-26