Incidental Mutation 'R2377:Blvrb'
ID |
248314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Blvrb
|
Ensembl Gene |
ENSMUSG00000040466 |
Gene Name |
biliverdin reductase B |
Synonyms |
|
MMRRC Submission |
040354-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2377 (G1)
|
Quality Score |
203 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27147403-27165406 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 27159024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 94
(I94N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037399]
[ENSMUST00000108357]
[ENSMUST00000108358]
[ENSMUST00000133750]
|
AlphaFold |
Q923D2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037399
AA Change: I94N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043092 Gene: ENSMUSG00000040466 AA Change: I94N
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 damaging
Transcript: ENSMUST00000108357
AA Change: I8N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103994 Gene: ENSMUSG00000040466 AA Change: I8N
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_10
|
2 |
105 |
1.1e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108358
AA Change: H141Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103995 Gene: ENSMUSG00000040466 AA Change: H141Q
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 damaging
Transcript: ENSMUST00000133750
AA Change: I94N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153644
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
possibly 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 |
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 |
R5607:Blvrb
|
UTSW |
7 |
27,158,894 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TGGCAACGACCTCAGTACTG -3'
(R):5'- TGAGTTGCAGAATCCAGGG -3'
Sequencing Primer
(F):5'- TCAGTACTGAGCCCCCCCTTTGC -3'
(R):5'- ACACTGCTACGTTCACAGTTGG -3'
|
Posted On |
2014-11-11 |