Incidental Mutation 'R6530:Irf6'
| ID |
522239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irf6
|
| Ensembl Gene |
ENSMUSG00000026638 |
| Gene Name |
interferon regulatory factor 6 |
| Synonyms |
E230028I05Rik |
| MMRRC Submission |
044656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R6530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
192835419-192854331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 192839657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 44
(T44M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076521]
|
| AlphaFold |
P97431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076521
AA Change: T44M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
AA Change: T44M
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
3 |
116 |
1.98e-59 |
SMART |
|
low complexity region
|
135 |
151 |
N/A |
INTRINSIC |
|
Blast:IRF
|
158 |
189 |
6e-8 |
BLAST |
|
IRF-3
|
223 |
407 |
3.92e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140066
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
PHENOTYPE: Mice with mutations of Irf6 display craniofacial, limb, and skin defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,746,039 (GRCm39) |
L74P |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,364 (GRCm39) |
T575A |
probably benign |
Het |
| Adck5 |
T |
G |
15: 76,478,047 (GRCm39) |
D224E |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,448,979 (GRCm39) |
N376S |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,499,499 (GRCm39) |
D254E |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,979,978 (GRCm39) |
A274S |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,961,791 (GRCm39) |
V159A |
probably benign |
Het |
| Ccdc138 |
G |
C |
10: 58,380,790 (GRCm39) |
G474R |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,124,558 (GRCm39) |
T203A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,865 (GRCm39) |
I877T |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,856 (GRCm39) |
R2438H |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,031,366 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,190 (GRCm39) |
R459C |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,889,785 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,057,514 (GRCm39) |
P702S |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,265,802 (GRCm39) |
Y182* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,499,847 (GRCm39) |
N87S |
probably benign |
Het |
| Mtrf1 |
A |
T |
14: 79,640,331 (GRCm39) |
Q162L |
possibly damaging |
Het |
| Myoz3 |
G |
T |
18: 60,712,592 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Or8k27 |
A |
C |
2: 86,275,826 (GRCm39) |
S167A |
probably benign |
Het |
| Parg |
T |
C |
14: 31,931,156 (GRCm39) |
S176P |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,617 (GRCm39) |
V891G |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,367 (GRCm39) |
I21N |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,132,148 (GRCm39) |
V20A |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,070,011 (GRCm39) |
S1462R |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,471,950 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
C |
5: 87,724,147 (GRCm39) |
E270G |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,631 (GRCm39) |
F1436V |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,241,603 (GRCm39) |
|
probably null |
Het |
| Ucp2 |
A |
T |
7: 100,147,430 (GRCm39) |
E161D |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,252 (GRCm39) |
F217S |
possibly damaging |
Het |
| Wdr93 |
G |
A |
7: 79,405,741 (GRCm39) |
A207T |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,586,939 (GRCm39) |
S133P |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Irf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03269:Irf6
|
APN |
1 |
192,844,906 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Irf6
|
UTSW |
1 |
192,848,067 (GRCm39) |
unclassified |
probably benign |
|
|
R1317:Irf6
|
UTSW |
1 |
192,851,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Irf6
|
UTSW |
1 |
192,851,613 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1761:Irf6
|
UTSW |
1 |
192,851,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Irf6
|
UTSW |
1 |
192,849,843 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3712:Irf6
|
UTSW |
1 |
192,844,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3941:Irf6
|
UTSW |
1 |
192,850,857 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4717:Irf6
|
UTSW |
1 |
192,849,742 (GRCm39) |
splice site |
probably null |
|
|
R6461:Irf6
|
UTSW |
1 |
192,849,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Irf6
|
UTSW |
1 |
192,851,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Irf6
|
UTSW |
1 |
192,849,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Irf6
|
UTSW |
1 |
192,849,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Irf6
|
UTSW |
1 |
192,844,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Irf6
|
UTSW |
1 |
192,850,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Irf6
|
UTSW |
1 |
192,845,021 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8934:Irf6
|
UTSW |
1 |
192,845,033 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACTGTAGCCTCAGTACCTG -3'
(R):5'- AGAGGAATCACAATTTGGGCATC -3'
Sequencing Primer
(F):5'- AAAGTTCCCAGTGGCTAGCTC -3'
(R):5'- GGGCATCTTATCATATAGGTTCCGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation