Incidental Mutation 'R3610:Irf2bpl'
| ID |
269209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf2bpl
|
| Ensembl Gene |
ENSMUSG00000034168 |
| Gene Name |
interferon regulatory factor 2 binding protein-like |
| Synonyms |
6430527G18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R3610 (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 C
at 86928631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 681
(I681V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038422]
|
| AlphaFold |
Q8K3X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038422
AA Change: I681V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: I681V
| 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: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
C |
A |
11: 94,452,172 (GRCm39) |
V457L |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,285,694 (GRCm39) |
R733S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,443,276 (GRCm39) |
F989S |
probably damaging |
Het |
| Dcaf10 |
G |
T |
4: 45,372,962 (GRCm39) |
E409* |
probably null |
Het |
| Ddx3y |
T |
C |
Y: 1,263,928 (GRCm39) |
N545S |
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,458 (GRCm39) |
S448G |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rcl1 |
A |
G |
19: 29,095,630 (GRCm39) |
T72A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,658 (GRCm39) |
F796S |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tars1 |
T |
C |
15: 11,392,990 (GRCm39) |
Y152C |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,793,710 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,279 (GRCm39) |
V295I |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly 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 |
|
R2881:Irf2bpl
|
UTSW |
12 |
86,929,551 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AAGGTACATTAGACCCGACTAGG -3'
(R):5'- ACTTTGGGCACAGCTCATTC -3'
Sequencing Primer
(F):5'- CGACTAGGGGGCATTTCTCTC -3'
(R):5'- CCAAGGACGGCAGTTCAGTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation