Incidental Mutation 'IGL02298:Ifih1'
ID |
290230 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ifih1
|
Ensembl Gene |
ENSMUSG00000026896 |
Gene Name |
interferon induced with helicase C domain 1 |
Synonyms |
MDA5, 9130009C22Rik, Helicard, MDA-5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
IGL02298
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
62426142-62476599 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 62440783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028259]
[ENSMUST00000112459]
|
AlphaFold |
Q8R5F7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028259
|
SMART Domains |
Protein: ENSMUSP00000028259 Gene: ENSMUSG00000026896
Domain | Start | End | E-Value | Type |
Pfam:CARD_2
|
7 |
99 |
3e-22 |
PFAM |
Pfam:CARD_2
|
110 |
200 |
6.8e-22 |
PFAM |
Pfam:CARD
|
115 |
200 |
2.6e-15 |
PFAM |
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
DEXDc
|
305 |
520 |
1.08e-26 |
SMART |
Blast:DEXDc
|
590 |
712 |
1e-45 |
BLAST |
HELICc
|
742 |
826 |
1.27e-14 |
SMART |
Pfam:RIG-I_C-RD
|
903 |
1018 |
4.2e-42 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112459
|
SMART Domains |
Protein: ENSMUSP00000108078 Gene: ENSMUSG00000026896
Domain | Start | End | E-Value | Type |
SCOP:d3ygsp_
|
6 |
88 |
1e-3 |
SMART |
Pfam:CARD
|
115 |
200 |
3.9e-15 |
PFAM |
DEXDc
|
256 |
471 |
1.08e-26 |
SMART |
Blast:DEXDc
|
541 |
663 |
1e-45 |
BLAST |
HELICc
|
693 |
777 |
1.27e-14 |
SMART |
Pfam:RIG-I_C-RD
|
852 |
973 |
1.5e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176431
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012] PHENOTYPE: Mice homozygous for a null allele have increased virus-associated morbidity and mortality, and decreased cytokine response to several viral infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,580,044 (GRCm39) |
S2053P |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,263,633 (GRCm39) |
E125K |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,225,175 (GRCm39) |
D24V |
probably damaging |
Het |
Clec2m |
T |
A |
6: 129,308,527 (GRCm39) |
M1L |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,607,322 (GRCm39) |
E2638K |
probably damaging |
Het |
Fbxw5 |
G |
A |
2: 25,394,456 (GRCm39) |
W143* |
probably null |
Het |
Galk2 |
T |
C |
2: 125,701,290 (GRCm39) |
S5P |
probably benign |
Het |
Gtf2h2 |
A |
G |
13: 100,617,547 (GRCm39) |
V205A |
probably damaging |
Het |
Helb |
C |
A |
10: 119,937,431 (GRCm39) |
Q604H |
probably damaging |
Het |
Map7d1 |
T |
C |
4: 126,127,714 (GRCm39) |
E675G |
unknown |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Shc4 |
T |
C |
2: 125,491,074 (GRCm39) |
H488R |
probably damaging |
Het |
Speer1d |
T |
G |
5: 11,307,158 (GRCm39) |
L12R |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,309,364 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,812,002 (GRCm39) |
N904K |
probably damaging |
Het |
|
Other mutations in Ifih1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Ifih1
|
APN |
2 |
62,476,214 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00832:Ifih1
|
APN |
2 |
62,475,814 (GRCm39) |
splice site |
probably benign |
|
IGL00906:Ifih1
|
APN |
2 |
62,476,168 (GRCm39) |
missense |
probably benign |
|
IGL01664:Ifih1
|
APN |
2 |
62,442,044 (GRCm39) |
splice site |
probably benign |
|
IGL01820:Ifih1
|
APN |
2 |
62,447,657 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02016:Ifih1
|
APN |
2 |
62,437,328 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02311:Ifih1
|
APN |
2 |
62,440,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02635:Ifih1
|
APN |
2 |
62,442,173 (GRCm39) |
missense |
probably damaging |
1.00 |
Washington
|
UTSW |
2 |
62,429,143 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0514:Ifih1
|
UTSW |
2 |
62,453,735 (GRCm39) |
critical splice donor site |
probably null |
|
R1329:Ifih1
|
UTSW |
2 |
62,447,831 (GRCm39) |
splice site |
probably null |
|
R1484:Ifih1
|
UTSW |
2 |
62,440,902 (GRCm39) |
missense |
probably benign |
0.00 |
R1769:Ifih1
|
UTSW |
2 |
62,436,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Ifih1
|
UTSW |
2 |
62,440,889 (GRCm39) |
nonsense |
probably null |
|
R2125:Ifih1
|
UTSW |
2 |
62,453,811 (GRCm39) |
missense |
probably benign |
0.43 |
R2126:Ifih1
|
UTSW |
2 |
62,453,811 (GRCm39) |
missense |
probably benign |
0.43 |
R2406:Ifih1
|
UTSW |
2 |
62,437,447 (GRCm39) |
splice site |
probably benign |
|
R3919:Ifih1
|
UTSW |
2 |
62,453,845 (GRCm39) |
splice site |
probably benign |
|
R4033:Ifih1
|
UTSW |
2 |
62,465,534 (GRCm39) |
missense |
probably benign |
|
R4060:Ifih1
|
UTSW |
2 |
62,429,143 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4435:Ifih1
|
UTSW |
2 |
62,476,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R4538:Ifih1
|
UTSW |
2 |
62,447,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Ifih1
|
UTSW |
2 |
62,439,563 (GRCm39) |
missense |
probably benign |
0.00 |
R4703:Ifih1
|
UTSW |
2 |
62,429,220 (GRCm39) |
missense |
probably benign |
0.05 |
R4897:Ifih1
|
UTSW |
2 |
62,465,358 (GRCm39) |
intron |
probably benign |
|
R5274:Ifih1
|
UTSW |
2 |
62,442,062 (GRCm39) |
missense |
probably benign |
0.00 |
R5949:Ifih1
|
UTSW |
2 |
62,440,904 (GRCm39) |
missense |
probably benign |
0.05 |
R6140:Ifih1
|
UTSW |
2 |
62,431,804 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6223:Ifih1
|
UTSW |
2 |
62,428,603 (GRCm39) |
missense |
probably benign |
|
R6332:Ifih1
|
UTSW |
2 |
62,469,827 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6650:Ifih1
|
UTSW |
2 |
62,436,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6813:Ifih1
|
UTSW |
2 |
62,476,037 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6977:Ifih1
|
UTSW |
2 |
62,436,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7054:Ifih1
|
UTSW |
2 |
62,440,859 (GRCm39) |
missense |
probably benign |
0.30 |
R7167:Ifih1
|
UTSW |
2 |
62,429,240 (GRCm39) |
missense |
probably benign |
|
R7269:Ifih1
|
UTSW |
2 |
62,475,977 (GRCm39) |
missense |
probably benign |
0.00 |
R7397:Ifih1
|
UTSW |
2 |
62,453,832 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7885:Ifih1
|
UTSW |
2 |
62,431,813 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8672:Ifih1
|
UTSW |
2 |
62,435,993 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8960:Ifih1
|
UTSW |
2 |
62,442,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9258:Ifih1
|
UTSW |
2 |
62,442,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Ifih1
|
UTSW |
2 |
62,475,950 (GRCm39) |
missense |
probably benign |
|
R9432:Ifih1
|
UTSW |
2 |
62,439,618 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ifih1
|
UTSW |
2 |
62,447,813 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |