Incidental Mutation 'IGL02016:Ifih1'
ID183738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifih1
Ensembl Gene ENSMUSG00000026896
Gene Nameinterferon induced with helicase C domain 1
SynonymsMDA5, Helicard, 9130009C22Rik, MDA-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02016
Quality Score
Status
Chromosome2
Chromosomal Location62595798-62646255 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 62606984 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 537 (M537R)
Ref Sequence ENSEMBL: ENSMUSP00000108078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028259] [ENSMUST00000112459]
Predicted Effect probably benign
Transcript: ENSMUST00000028259
AA Change: M586R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028259
Gene: ENSMUSG00000026896
AA Change: M586R

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 benign
Transcript: ENSMUST00000112459
AA Change: M537R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108078
Gene: ENSMUSG00000026896
AA Change: M537R

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik C A 2: 127,186,955 G108V probably damaging Het
4931406P16Rik A G 7: 34,239,101 M791T possibly damaging Het
A2ml1 T C 6: 128,558,335 E804G probably damaging Het
Abcg4 G A 9: 44,287,350 T35M probably damaging Het
Acad9 A T 3: 36,088,486 probably null Het
Adgrv1 T C 13: 81,397,453 D5571G probably damaging Het
App T A 16: 85,056,521 D223V unknown Het
Arhgap30 A G 1: 171,407,747 E563G probably damaging Het
Atp6v1e2 A T 17: 86,944,394 V192D probably damaging Het
Atr G A 9: 95,927,175 V1969I probably benign Het
Bean1 T C 8: 104,210,918 L43S possibly damaging Het
Cand1 A G 10: 119,212,568 V436A probably damaging Het
Card6 T C 15: 5,108,256 I39V probably damaging Het
Ccdc73 A G 2: 104,975,616 T300A probably benign Het
Ccdc88c T C 12: 100,941,207 T962A possibly damaging Het
Chd6 G T 2: 160,983,678 L1169I probably damaging Het
Chrna7 A T 7: 63,103,835 V312E probably damaging Het
Dna2 A G 10: 62,960,412 N540S probably benign Het
Elavl2 T C 4: 91,260,935 E209G probably damaging Het
Elmo2 A G 2: 165,295,012 probably null Het
Fto A T 8: 91,666,406 R494* probably null Het
Gm13088 T A 4: 143,655,319 E269V possibly damaging Het
Gm9966 A T 7: 95,958,807 T112S unknown Het
Gtf3c1 A C 7: 125,668,039 I940S probably damaging Het
Hecw2 C A 1: 53,831,543 Q1426H possibly damaging Het
Iars2 A C 1: 185,303,306 L579R probably damaging Het
Kcnmb4 A G 10: 116,446,462 probably benign Het
Large2 A G 2: 92,369,543 V175A possibly damaging Het
Mad2l1bp A G 17: 46,153,502 probably benign Het
Muc20 A T 16: 32,797,352 F14Y possibly damaging Het
Myom2 A G 8: 15,125,195 E1258G probably benign Het
Olfr1066 A T 2: 86,455,497 M258K probably damaging Het
Parp1 A T 1: 180,598,951 probably null Het
Prkra A T 2: 76,643,309 probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scd1 C T 19: 44,400,307 G235S probably benign Het
Sdk1 A G 5: 142,034,429 H654R possibly damaging Het
Sesn3 A G 9: 14,320,337 Y188C probably damaging Het
Slc26a4 T C 12: 31,535,667 M461V probably damaging Het
Slc28a2 A G 2: 122,455,341 I439V probably benign Het
Smc5 T A 19: 23,273,712 N36I probably benign Het
Smurf2 A G 11: 106,822,678 F745S probably damaging Het
Spata22 A G 11: 73,336,031 N65S possibly damaging Het
Tanc1 A G 2: 59,843,590 T1680A probably benign Het
Tnxb G A 17: 34,672,275 V531M probably damaging Het
Trpm3 T G 19: 22,902,069 Y727* probably null Het
Tssk1 A T 16: 17,894,894 Y181F probably damaging Het
Ucp3 T A 7: 100,480,559 V136E probably damaging Het
Uqcrfs1 A C 13: 30,545,114 V45G probably benign Het
Uvrag A G 7: 99,099,442 I101T probably benign Het
Vmn1r206 A T 13: 22,620,164 L291Q probably damaging Het
Wnk2 T A 13: 49,056,905 I1813F probably damaging Het
Zbtb3 T A 19: 8,803,215 V64E probably damaging Het
Zeb2 A G 2: 44,988,874 I1115T possibly damaging Het
Zfp280b C T 10: 76,039,111 L275F possibly damaging Het
Other mutations in Ifih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ifih1 APN 2 62645870 missense probably damaging 1.00
IGL00832:Ifih1 APN 2 62645470 splice site probably benign
IGL00906:Ifih1 APN 2 62645824 missense probably benign
IGL01664:Ifih1 APN 2 62611700 splice site probably benign
IGL01820:Ifih1 APN 2 62617313 missense probably damaging 1.00
IGL02298:Ifih1 APN 2 62610439 critical splice donor site probably null
IGL02311:Ifih1 APN 2 62610503 missense probably damaging 1.00
IGL02635:Ifih1 APN 2 62611829 missense probably damaging 1.00
Washington UTSW 2 62598799 missense possibly damaging 0.88
R0514:Ifih1 UTSW 2 62623391 critical splice donor site probably null
R1329:Ifih1 UTSW 2 62617487 splice site probably null
R1484:Ifih1 UTSW 2 62610558 missense probably benign 0.00
R1769:Ifih1 UTSW 2 62606394 missense probably damaging 1.00
R2104:Ifih1 UTSW 2 62610545 nonsense probably null
R2125:Ifih1 UTSW 2 62623467 missense probably benign 0.43
R2126:Ifih1 UTSW 2 62623467 missense probably benign 0.43
R2406:Ifih1 UTSW 2 62607103 splice site probably benign
R3919:Ifih1 UTSW 2 62623501 splice site probably benign
R4033:Ifih1 UTSW 2 62635190 missense probably benign
R4060:Ifih1 UTSW 2 62598799 missense possibly damaging 0.88
R4435:Ifih1 UTSW 2 62645890 missense probably damaging 1.00
R4538:Ifih1 UTSW 2 62617412 missense probably damaging 1.00
R4663:Ifih1 UTSW 2 62609219 missense probably benign 0.00
R4703:Ifih1 UTSW 2 62598876 missense probably benign 0.05
R4897:Ifih1 UTSW 2 62635014 intron probably benign
R5274:Ifih1 UTSW 2 62611718 missense probably benign 0.00
R5949:Ifih1 UTSW 2 62610560 missense probably benign 0.05
R6140:Ifih1 UTSW 2 62601460 missense possibly damaging 0.77
R6223:Ifih1 UTSW 2 62598259 missense probably benign
R6332:Ifih1 UTSW 2 62639483 missense possibly damaging 0.64
R6650:Ifih1 UTSW 2 62606447 missense possibly damaging 0.69
R6813:Ifih1 UTSW 2 62645693 missense possibly damaging 0.90
R6977:Ifih1 UTSW 2 62606186 missense probably damaging 1.00
R7054:Ifih1 UTSW 2 62610515 missense probably benign 0.30
R7167:Ifih1 UTSW 2 62598896 missense probably benign
R7269:Ifih1 UTSW 2 62645633 missense probably benign 0.00
R7397:Ifih1 UTSW 2 62623488 missense possibly damaging 0.85
R7885:Ifih1 UTSW 2 62601469 missense possibly damaging 0.96
R7968:Ifih1 UTSW 2 62601469 missense possibly damaging 0.96
Z1176:Ifih1 UTSW 2 62617469 missense probably benign
Posted On2014-05-07