Incidental Mutation 'R2364:Blvrb'
| ID |
247272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blvrb
|
| Ensembl Gene |
ENSMUSG00000040466 |
| Gene Name |
biliverdin reductase B |
| Synonyms |
|
| MMRRC Submission |
040345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2364 (G1)
|
| Quality Score |
175 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27147403-27165406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27147558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 6
(I6V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103995
(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: I6V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: I6V
| 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 |
possibly damaging
Transcript: ENSMUST00000108358
AA Change: I6V
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: I6V
| 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: I6V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| 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: ENSMUST00000153644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207799
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
| Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
| Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
| Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
| Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
| Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
| Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
| Zfp317 |
A |
G |
9: 19,559,031 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
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 |
|
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 |
|
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'- CCGCCCTTTGAACCCAAATTAG -3'
(R):5'- AATGTCAGAGTCCTCCATTTGTG -3'
Sequencing Primer
(F):5'- CCCAAATTAGGAGGGTGAGGC -3'
(R):5'- TGACCACTTGCTGGCCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation