Incidental Mutation 'R6491:Irf2bpl'
| ID |
543457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf2bpl
|
| Ensembl Gene |
ENSMUSG00000034168 |
| Gene Name |
interferon regulatory factor 2 binding protein-like |
| Synonyms |
6430527G18Rik |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
54.0072 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
86927475-86931572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86930238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 145
(V145A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038422]
|
| AlphaFold |
Q8K3X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038422
AA Change: V145A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: V145A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
|
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 |
|
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'- AGAAGCCACCGATGTTGCTG -3'
(R):5'- TTCGTGATCGAGACAGCACG -3'
Sequencing Primer
(F):5'- CACCGATGTTGCTGCTGAG -3'
(R):5'- TCACGGTTGCTTCCAAGACG -3'
|
| Posted On |
2019-01-04 |
Incidental Mutation