Incidental Mutation 'R2881:Irf2bpl'
| ID |
260330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf2bpl
|
| Ensembl Gene |
ENSMUSG00000034168 |
| Gene Name |
interferon regulatory factor 2 binding protein-like |
| Synonyms |
6430527G18Rik |
| MMRRC Submission |
040469-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.378)
|
| Stock # |
R2881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
86927475-86931572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86929551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 374
(D374V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038422]
|
| AlphaFold |
Q8K3X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038422
AA Change: D374V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: D374V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRF-2BP1_2
|
10 |
61 |
2e-38 |
PFAM |
|
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
|
coiled coil region
|
84 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
300 |
N/A |
INTRINSIC |
|
coiled coil region
|
314 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
646 |
N/A |
INTRINSIC |
|
PDB:2CS3|A
|
684 |
765 |
7e-52 |
PDB |
|
SCOP:d1fbva4
|
692 |
738 |
4e-6 |
SMART |
|
Blast:RING
|
694 |
745 |
4e-24 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Camta2 |
A |
T |
11: 70,570,490 (GRCm39) |
|
probably null |
Het |
| Ces1d |
C |
A |
8: 93,921,659 (GRCm39) |
G35W |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Coasy |
G |
A |
11: 100,976,675 (GRCm39) |
V482I |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,462,249 (GRCm39) |
V344E |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,927,913 (GRCm39) |
Y73* |
probably null |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,185 (GRCm39) |
T564A |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,179,355 (GRCm39) |
M518T |
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,547,230 (GRCm39) |
M471K |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,571,488 (GRCm39) |
E227G |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,675,328 (GRCm39) |
|
probably null |
Het |
| Or5ac24 |
A |
T |
16: 59,165,215 (GRCm39) |
L283Q |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Pira13 |
T |
A |
7: 3,828,640 (GRCm39) |
M1L |
probably null |
Het |
| Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,380,570 (GRCm39) |
Y754C |
probably damaging |
Het |
| She |
T |
A |
3: 89,739,231 (GRCm39) |
C141S |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Vmn2r88 |
G |
T |
14: 51,656,146 (GRCm39) |
C794F |
probably damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,407 (GRCm39) |
K256R |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,329 (GRCm39) |
C385S |
probably damaging |
Het |
|
| Other mutations in Irf2bpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03343:Irf2bpl
|
APN |
12 |
86,929,713 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
twig
|
UTSW |
12 |
86,930,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT1430001:Irf2bpl
|
UTSW |
12 |
86,930,229 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0218:Irf2bpl
|
UTSW |
12 |
86,929,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0371:Irf2bpl
|
UTSW |
12 |
86,928,417 (GRCm39) |
nonsense |
probably null |
|
|
R0426:Irf2bpl
|
UTSW |
12 |
86,929,870 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1351:Irf2bpl
|
UTSW |
12 |
86,929,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3610:Irf2bpl
|
UTSW |
12 |
86,928,631 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4206:Irf2bpl
|
UTSW |
12 |
86,929,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4240:Irf2bpl
|
UTSW |
12 |
86,929,691 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4938:Irf2bpl
|
UTSW |
12 |
86,928,892 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5451:Irf2bpl
|
UTSW |
12 |
86,928,846 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6213:Irf2bpl
|
UTSW |
12 |
86,930,367 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6491:Irf2bpl
|
UTSW |
12 |
86,930,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6969:Irf2bpl
|
UTSW |
12 |
86,929,468 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7151:Irf2bpl
|
UTSW |
12 |
86,930,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7649:Irf2bpl
|
UTSW |
12 |
86,929,572 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7751:Irf2bpl
|
UTSW |
12 |
86,930,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8711:Irf2bpl
|
UTSW |
12 |
86,928,496 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8857:Irf2bpl
|
UTSW |
12 |
86,929,359 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0066:Irf2bpl
|
UTSW |
12 |
86,928,424 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTGAAGCCAGAGGACAGAC -3'
(R):5'- GTGTCAGCCACTGTATCCTC -3'
Sequencing Primer
(F):5'- CCCCGGCCAAAGTCCTTC -3'
(R):5'- AAGAGGCCTGGATCGGTGTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation