Incidental Mutation 'R5021:Blvrb'
| ID |
446631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blvrb
|
| Ensembl Gene |
ENSMUSG00000040466 |
| Gene Name |
biliverdin reductase B |
| Synonyms |
|
| MMRRC Submission |
042612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5021 (G1)
|
| Quality Score |
40 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27147403-27165406 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 27147543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011895]
[ENSMUST00000037399]
[ENSMUST00000108357]
[ENSMUST00000108358]
[ENSMUST00000133750]
[ENSMUST00000152572]
[ENSMUST00000172269]
|
| AlphaFold |
Q923D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011895
|
| SMART Domains |
Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.4e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
642 |
7.62e-19 |
SMART |
|
SPEC
|
648 |
766 |
1.31e-8 |
SMART |
|
SPEC
|
772 |
874 |
2.94e-11 |
SMART |
|
SPEC
|
880 |
980 |
1.49e-21 |
SMART |
|
SPEC
|
986 |
1081 |
1.65e0 |
SMART |
|
SPEC
|
1087 |
1192 |
2.82e-13 |
SMART |
|
SPEC
|
1198 |
1298 |
6.59e-14 |
SMART |
|
SPEC
|
1304 |
1403 |
4.08e-19 |
SMART |
|
SPEC
|
1409 |
1508 |
5.92e-7 |
SMART |
|
SPEC
|
1514 |
1614 |
2.45e-22 |
SMART |
|
SPEC
|
1620 |
1720 |
1.45e-24 |
SMART |
|
SPEC
|
1726 |
1827 |
1.86e-22 |
SMART |
|
SPEC
|
1833 |
1935 |
9.54e-11 |
SMART |
|
SPEC
|
1941 |
2041 |
1.35e-19 |
SMART |
|
SPEC
|
2047 |
2297 |
1.06e-8 |
SMART |
|
low complexity region
|
2358 |
2412 |
N/A |
INTRINSIC |
|
PH
|
2416 |
2526 |
1.54e-14 |
SMART |
|
low complexity region
|
2549 |
2560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037399
AA Change: M1L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: M1L
| 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: M1L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: M1L
| 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
AA Change: M1L
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152572
|
| SMART Domains |
Protein: ENSMUSP00000120738
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
64 |
N/A |
INTRINSIC |
|
Pfam:CH
|
84 |
128 |
7.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172269
|
| SMART Domains |
Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.9e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
637 |
3.45e-17 |
SMART |
|
SPEC
|
643 |
761 |
1.31e-8 |
SMART |
|
SPEC
|
767 |
869 |
2.94e-11 |
SMART |
|
SPEC
|
875 |
975 |
1.49e-21 |
SMART |
|
SPEC
|
981 |
1076 |
1.65e0 |
SMART |
|
SPEC
|
1082 |
1187 |
2.82e-13 |
SMART |
|
SPEC
|
1193 |
1293 |
6.59e-14 |
SMART |
|
SPEC
|
1299 |
1398 |
4.08e-19 |
SMART |
|
SPEC
|
1404 |
1503 |
5.92e-7 |
SMART |
|
SPEC
|
1509 |
1609 |
2.45e-22 |
SMART |
|
SPEC
|
1615 |
1715 |
1.45e-24 |
SMART |
|
SPEC
|
1721 |
1822 |
1.86e-22 |
SMART |
|
SPEC
|
1828 |
1930 |
9.54e-11 |
SMART |
|
SPEC
|
1936 |
2036 |
1.35e-19 |
SMART |
|
SPEC
|
2042 |
2292 |
1.06e-8 |
SMART |
|
low complexity region
|
2352 |
2406 |
N/A |
INTRINSIC |
|
PH
|
2410 |
2520 |
1.54e-14 |
SMART |
|
low complexity region
|
2543 |
2554 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8370 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
95% (39/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
| B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
| Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,940,193 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
| Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
| Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
| Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
| Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
| Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
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 |
|
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'- ACTCATGCTCTTTCCAGCGG -3'
(R):5'- AGAGTCCTCCATTTGTGCC -3'
Sequencing Primer
(F):5'- TCTTTCCAGCGGGAGGC -3'
(R):5'- TGACCACTTGCTGGCCCAC -3'
|
| Posted On |
2016-12-05 |
Incidental Mutation