Incidental Mutation 'R1084:Blvra'
| ID |
84946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blvra
|
| Ensembl Gene |
ENSMUSG00000001999 |
| Gene Name |
biliverdin reductase A |
| Synonyms |
0610006A11Rik, 2500001N03Rik, Blvr |
| MMRRC Submission |
039170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R1084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126912585-126939004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126922573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002064]
[ENSMUST00000110389]
[ENSMUST00000135529]
[ENSMUST00000142737]
|
| AlphaFold |
Q9CY64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002064
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
AA Change: T3A
| 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
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
AA Change: T3A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GFO_IDH_MocA
|
9 |
123 |
9.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135529
AA Change: T3A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: T3A
| 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
AA Change: T3A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116825
Gene: ENSMUSG00000001999
AA Change: T3A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,790,004 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
C |
T |
9: 44,188,766 (GRCm39) |
V476M |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,163,797 (GRCm39) |
S478G |
probably damaging |
Het |
| Crygb |
C |
T |
1: 65,119,654 (GRCm39) |
D109N |
possibly damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,033,484 (GRCm39) |
T207S |
probably benign |
Het |
| Cyp4b1 |
A |
G |
4: 115,497,509 (GRCm39) |
V163A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,717 (GRCm39) |
S1222R |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,343,598 (GRCm39) |
V2333I |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,324 (GRCm39) |
V364M |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,974 (GRCm39) |
V2542A |
possibly damaging |
Het |
| Glcci1 |
C |
T |
6: 8,573,221 (GRCm39) |
Q50* |
probably null |
Het |
| Heg1 |
A |
G |
16: 33,527,367 (GRCm39) |
D109G |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,111,464 (GRCm39) |
S2238R |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,666,420 (GRCm39) |
W1053* |
probably null |
Het |
| Ly6f |
T |
C |
15: 75,140,622 (GRCm39) |
L15P |
probably damaging |
Het |
| Mapk8 |
T |
A |
14: 33,110,760 (GRCm39) |
K290* |
probably null |
Het |
| Mbd1 |
A |
G |
18: 74,402,603 (GRCm39) |
Y35C |
probably damaging |
Het |
| Mcf2l |
T |
C |
8: 13,052,645 (GRCm39) |
V503A |
possibly damaging |
Het |
| Morc2a |
A |
G |
11: 3,600,454 (GRCm39) |
|
probably benign |
Het |
| Ms4a8a |
T |
A |
19: 11,053,726 (GRCm39) |
I127F |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,575,221 (GRCm39) |
Y165C |
probably damaging |
Het |
| Ocel1 |
G |
T |
8: 71,824,632 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,878,554 (GRCm39) |
T603M |
probably damaging |
Het |
| Rab6b |
C |
T |
9: 103,039,834 (GRCm39) |
T128M |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,802,279 (GRCm39) |
|
probably null |
Het |
| Sec23a |
A |
T |
12: 59,031,921 (GRCm39) |
N436K |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,604,408 (GRCm39) |
L736P |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,032 (GRCm39) |
E2154G |
probably benign |
Het |
| Tnrc18 |
A |
G |
5: 142,750,522 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,317,912 (GRCm39) |
Q2140R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,985 (GRCm39) |
R834G |
probably benign |
Het |
| Zfp276 |
G |
A |
8: 123,981,462 (GRCm39) |
R3Q |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,932 (GRCm39) |
L115Q |
probably damaging |
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 |
|
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 |
|
|
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'- TAACTCACGGTCCACTGCAAGC -3'
(R):5'- CAGCATAGTGACCCATAGCAGGAAC -3'
Sequencing Primer
(F):5'- agcacctcgctcatacttc -3'
(R):5'- CATAGCAGGAACAGATAAAACTCAAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation