Incidental Mutation 'IGL03269:Irf6'
| ID |
415212 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irf6
|
| Ensembl Gene |
ENSMUSG00000026638 |
| Gene Name |
interferon regulatory factor 6 |
| Synonyms |
E230028I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192835419-192854331 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 192844906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076521]
|
| AlphaFold |
P97431 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076521
|
| SMART Domains |
Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
| 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 |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
Het |
|
| Other mutations in Irf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6530:Irf6
|
UTSW |
1 |
192,839,657 (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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation