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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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