Incidental Mutation 'IGL03119:Ifrd1'
ID 409898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifrd1
Ensembl Gene ENSMUSG00000001627
Gene Name interferon-related developmental regulator 1
Synonyms PC4, Ifnl, Tis7
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # IGL03119
Quality Score
Status
Chromosome 12
Chromosomal Location 40253128-40273184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40262333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 244 (F244L)
Ref Sequence ENSEMBL: ENSMUSP00000133028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001672] [ENSMUST00000164354] [ENSMUST00000165027] [ENSMUST00000169319] [ENSMUST00000169926] [ENSMUST00000171530]
AlphaFold P19182
Predicted Effect probably null
Transcript: ENSMUST00000001672
AA Change: F292L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627
AA Change: F292L

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
Pfam:IFRD 40 345 1.1e-115 PFAM
Pfam:IFRD_C 390 443 6.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164354
SMART Domains Protein: ENSMUSP00000130846
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
Pfam:IFRD 1 87 1.1e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165027
AA Change: F244L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627
AA Change: F244L

DomainStartEndE-ValueType
Pfam:IFRD 1 119 8.6e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165676
Predicted Effect probably benign
Transcript: ENSMUST00000169319
SMART Domains Protein: ENSMUSP00000130824
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
Pfam:IFRD 1 100 8.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169926
SMART Domains Protein: ENSMUSP00000127673
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
Pfam:IFRD 1 138 5.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170752
Predicted Effect probably benign
Transcript: ENSMUST00000171530
SMART Domains Protein: ENSMUSP00000128635
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
Pfam:IFRD 40 137 1.8e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171553
SMART Domains Protein: ENSMUSP00000127954
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
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 is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Stat2 A G 10: 128,119,386 (GRCm39) M457V probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Ifrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Ifrd1 APN 12 40,264,092 (GRCm39) missense probably benign 0.00
IGL02442:Ifrd1 APN 12 40,266,316 (GRCm39) splice site probably benign
IGL02942:Ifrd1 APN 12 40,267,375 (GRCm39) critical splice donor site probably null
R0107:Ifrd1 UTSW 12 40,264,080 (GRCm39) missense probably damaging 1.00
R0138:Ifrd1 UTSW 12 40,257,129 (GRCm39) splice site probably benign
R0390:Ifrd1 UTSW 12 40,264,093 (GRCm39) splice site probably null
R0627:Ifrd1 UTSW 12 40,256,986 (GRCm39) critical splice donor site probably null
R2061:Ifrd1 UTSW 12 40,263,244 (GRCm39) missense probably benign 0.00
R5779:Ifrd1 UTSW 12 40,253,369 (GRCm39) missense probably damaging 1.00
R5915:Ifrd1 UTSW 12 40,263,095 (GRCm39) missense possibly damaging 0.94
R6000:Ifrd1 UTSW 12 40,266,243 (GRCm39) missense possibly damaging 0.52
R6539:Ifrd1 UTSW 12 40,253,434 (GRCm39) missense probably damaging 1.00
R6751:Ifrd1 UTSW 12 40,253,913 (GRCm39) splice site probably null
R6800:Ifrd1 UTSW 12 40,273,157 (GRCm39) unclassified probably benign
R8117:Ifrd1 UTSW 12 40,262,350 (GRCm39) missense probably benign
R8795:Ifrd1 UTSW 12 40,263,076 (GRCm39) missense possibly damaging 0.47
R9345:Ifrd1 UTSW 12 40,267,458 (GRCm39) missense possibly damaging 0.87
R9507:Ifrd1 UTSW 12 40,267,225 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02