Incidental Mutation 'R3734:Blvra'
| ID |
473273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blvra
|
| Ensembl Gene |
ENSMUSG00000001999 |
| Gene Name |
biliverdin reductase A |
| Synonyms |
0610006A11Rik, 2500001N03Rik, Blvr |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126912585-126939004 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 126932175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002064]
[ENSMUST00000110389]
[ENSMUST00000135529]
[ENSMUST00000142737]
|
| AlphaFold |
Q9CY64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002064
|
| SMART Domains |
Protein: ENSMUSP00000002064
Gene: ENSMUSG00000001999
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106019
Gene: ENSMUSG00000001999
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GFO_IDH_MocA
|
9 |
123 |
9.7e-22 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135529
AA Change: T121S
|
| SMART Domains |
Protein: ENSMUSP00000118278
Gene: ENSMUSG00000001999
AA Change: T121S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142861
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation