Incidental Mutation 'IGL02942:Ifrd1'
ID364574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifrd1
Ensembl Gene ENSMUSG00000001627
Gene Nameinterferon-related developmental regulator 1
SynonymsTis7, PC4, Ifnl
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.566) question?
Stock #IGL02942
Quality Score
Status
Chromosome12
Chromosomal Location40201567-40248504 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 40217376 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001672] [ENSMUST00000164354] [ENSMUST00000165027] [ENSMUST00000169319] [ENSMUST00000169926] [ENSMUST00000171530]
Predicted Effect probably null
Transcript: ENSMUST00000001672
SMART Domains Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627

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 null
Transcript: ENSMUST00000164354
SMART Domains Protein: ENSMUSP00000130846
Gene: ENSMUSG00000001627

DomainStartEndE-ValueType
Pfam:IFRD 1 87 1.1e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165027
SMART Domains Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627

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

DomainStartEndE-ValueType
Pfam:IFRD 1 100 8.9e-35 PFAM
Predicted Effect probably null
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,149,175 D679E probably damaging Het
Adh6a A T 3: 138,324,881 D88V probably damaging Het
Ank3 G A 10: 69,973,877 V1123I probably damaging Het
Apba1 T C 19: 23,944,971 V801A possibly damaging Het
Bcl2a1a C T 9: 88,957,042 probably benign Het
Brd8 A G 18: 34,610,627 V215A possibly damaging Het
Cdk17 G A 10: 93,238,968 V454I probably benign Het
Chd5 G A 4: 152,385,725 G1876D probably damaging Het
Clec4g T C 8: 3,718,356 E125G probably damaging Het
Col24a1 G A 3: 145,541,665 G1602D probably damaging Het
Depdc7 A C 2: 104,728,094 L194R probably damaging Het
Dgke T G 11: 89,055,369 N202H probably benign Het
Dkk2 T A 3: 132,178,037 C233S probably damaging Het
Dmpk A C 7: 19,092,241 D542A probably damaging Het
Epb41l4a G A 18: 33,874,201 R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 Q1438L probably damaging Het
Gcgr A G 11: 120,536,817 probably null Het
Gm10295 T C 7: 71,350,502 K110R unknown Het
Inpp5f A G 7: 128,694,900 T365A probably benign Het
Kcnn3 A G 3: 89,652,076 K551R probably benign Het
Lama2 A T 10: 27,041,220 N2236K probably damaging Het
Larp7 A T 3: 127,544,195 I405N possibly damaging Het
Meltf C A 16: 31,890,778 Y432* probably null Het
Mst1r C A 9: 107,913,153 T655K possibly damaging Het
Myh1 C T 11: 67,202,482 P133L probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1454 A T 19: 13,064,188 Q259L probably benign Het
Olfr2 A G 7: 107,001,354 S169P possibly damaging Het
Olfr584 A T 7: 103,086,198 M222L probably benign Het
Pfkl A T 10: 78,000,133 probably null Het
Plekhb2 T C 1: 34,876,992 M204T probably damaging Het
Ptp4a2 G A 4: 129,845,193 probably null Het
Rtp4 A G 16: 23,612,954 T79A probably benign Het
Senp3 T C 11: 69,677,989 D410G probably benign Het
Slc16a5 T C 11: 115,469,350 F120L possibly damaging Het
Snrpe T C 1: 133,608,931 E37G probably damaging Het
Sorcs1 T C 19: 50,475,437 T192A probably damaging Het
Spef2 T A 15: 9,668,874 H742L possibly damaging Het
Syt12 T C 19: 4,447,830 S375G probably benign Het
Tas2r117 T C 6: 132,803,694 L265P probably benign Het
Tcp10a T A 17: 7,329,919 D158E probably damaging Het
Tesk2 A T 4: 116,771,820 H122L probably damaging Het
Unc93b1 T A 19: 3,948,686 M535K probably damaging Het
Vangl1 C A 3: 102,184,031 R246S probably damaging Het
Xpo5 C T 17: 46,208,133 T166I probably damaging Het
Zcchc6 T G 13: 59,811,521 N378H probably damaging Het
Zmiz2 T C 11: 6,399,500 probably benign Het
Other mutations in Ifrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Ifrd1 APN 12 40214093 missense probably benign 0.00
IGL02442:Ifrd1 APN 12 40216317 splice site probably benign
IGL03119:Ifrd1 APN 12 40212334 missense probably null 0.03
R0107:Ifrd1 UTSW 12 40214081 missense probably damaging 1.00
R0138:Ifrd1 UTSW 12 40207130 splice site probably benign
R0390:Ifrd1 UTSW 12 40214094 splice site probably null
R0627:Ifrd1 UTSW 12 40206987 critical splice donor site probably null
R2061:Ifrd1 UTSW 12 40213245 missense probably benign 0.00
R5779:Ifrd1 UTSW 12 40203370 missense probably damaging 1.00
R5915:Ifrd1 UTSW 12 40213096 missense possibly damaging 0.94
R6000:Ifrd1 UTSW 12 40216244 missense possibly damaging 0.52
R6539:Ifrd1 UTSW 12 40203435 missense probably damaging 1.00
R6751:Ifrd1 UTSW 12 40203914 splice site probably null
R6800:Ifrd1 UTSW 12 40223158 unclassified probably benign
Posted On2015-12-18