Incidental Mutation 'R5915:Ifrd1'
ID 461277
Institutional Source Beutler Lab
Gene Symbol Ifrd1
Ensembl Gene ENSMUSG00000001627
Gene Name interferon-related developmental regulator 1
Synonyms PC4, Ifnl, Tis7
MMRRC Submission 044112-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # R5915 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 40253128-40273184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40263095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 164 (C164S)
Ref Sequence ENSEMBL: ENSMUSP00000133028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001672] [ENSMUST00000164354] [ENSMUST00000165027] [ENSMUST00000169319] [ENSMUST00000169926] [ENSMUST00000171530]
AlphaFold P19182
Predicted Effect possibly damaging
Transcript: ENSMUST00000001672
AA Change: C212S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627
AA Change: C212S

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 possibly damaging
Transcript: ENSMUST00000165027
AA Change: C164S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627
AA Change: C164S

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 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
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
Meta Mutation Damage Score 0.3073 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (60/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Adgrg7 A T 16: 56,550,748 (GRCm39) probably null Het
Alox12e T C 11: 70,209,050 (GRCm39) I399V possibly damaging Het
Apoa5 C A 9: 46,180,607 (GRCm39) Q42K probably damaging Het
Arfgap1 A G 2: 180,620,215 (GRCm39) Y243C possibly damaging Het
Arhgap12 A G 18: 6,037,016 (GRCm39) probably null Het
Arl16 G A 11: 120,357,431 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,370,577 (GRCm39) D951G probably damaging Het
Babam2 T A 5: 31,942,955 (GRCm39) L80Q probably damaging Het
Celsr1 C T 15: 85,822,176 (GRCm39) V1714I probably benign Het
Celsr1 C T 15: 85,914,550 (GRCm39) R1141H probably damaging Het
Cep295 A G 9: 15,252,775 (GRCm39) L351P probably damaging Het
Dlc1 T A 8: 37,405,829 (GRCm39) probably benign Het
Dpy30 G T 17: 74,622,906 (GRCm39) D25E probably benign Het
Drosha T C 15: 12,935,152 (GRCm39) W998R probably damaging Het
Fibp A G 19: 5,513,644 (GRCm39) D220G possibly damaging Het
Grm3 C T 5: 9,561,927 (GRCm39) C641Y probably damaging Het
Gulo A T 14: 66,245,570 (GRCm39) V8D probably benign Het
Jam2 G A 16: 84,606,295 (GRCm39) S103N probably benign Het
Krtap17-1 T C 11: 99,884,444 (GRCm39) T108A unknown Het
Man2a2 A G 7: 80,010,669 (GRCm39) F774S probably benign Het
Map1b G A 13: 99,566,839 (GRCm39) R1961W unknown Het
Mib2 A G 4: 155,740,508 (GRCm39) probably benign Het
Mr1 A T 1: 155,012,534 (GRCm39) F127I probably damaging Het
Mrgprb2 A G 7: 48,202,554 (GRCm39) I57T probably benign Het
Ncan G T 8: 70,550,731 (GRCm39) Y1154* probably null Het
Nfx1 T A 4: 40,977,285 (GRCm39) S320T probably benign Het
Nlrp4f A G 13: 65,335,369 (GRCm39) L740P probably damaging Het
Nprl2 T C 9: 107,422,277 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,754 (GRCm39) probably null Het
Or5bw2 A T 7: 6,573,172 (GRCm39) I61F probably benign Het
Palld A G 8: 61,986,386 (GRCm39) probably null Het
Phf14 T A 6: 11,933,726 (GRCm39) M196K possibly damaging Het
Rnf145 T C 11: 44,433,549 (GRCm39) probably null Het
Sbf2 A T 7: 109,977,303 (GRCm39) C610* probably null Het
Sec24a C T 11: 51,646,964 (GRCm39) A13T probably benign Het
Smim8 TCTCCTC TCTC 4: 34,769,010 (GRCm39) probably benign Het
Sox8 A C 17: 25,786,443 (GRCm39) L420R probably damaging Het
Sry C G Y: 2,662,612 (GRCm39) Q349H unknown Het
Sspo A G 6: 48,441,530 (GRCm39) D1889G probably benign Het
Sspo A T 6: 48,468,418 (GRCm39) H4382L possibly damaging Het
Tmem65 T C 15: 58,662,037 (GRCm39) I141V probably damaging Het
Tpr A T 1: 150,301,400 (GRCm39) T1329S probably benign Het
Trim17 C T 11: 58,859,388 (GRCm39) R201W probably damaging Het
Trim3 A G 7: 105,267,182 (GRCm39) L399P possibly damaging Het
Trim7 A G 11: 48,736,477 (GRCm39) D277G possibly damaging Het
Vstm2b A G 7: 40,552,107 (GRCm39) N153S possibly damaging Het
Wnk2 G T 13: 49,231,561 (GRCm39) Q786K probably damaging Het
Wnk4 A G 11: 101,154,720 (GRCm39) *286W probably null Het
Xpot A T 10: 121,450,998 (GRCm39) L134Q probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zc3h7a G A 16: 10,982,466 (GRCm39) Q20* probably null Het
Zfp599 C T 9: 22,161,130 (GRCm39) C345Y probably damaging 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
IGL03119:Ifrd1 APN 12 40,262,333 (GRCm39) missense probably null 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TGGAAATGCCTAGAAAATAGTCATTAC -3'
(R):5'- ATTTTGTAGTGTGCAACTTGCT -3'

Sequencing Primer
(F):5'- TGCACTCATATGGTGCACAG -3'
(R):5'- GCAACTTGCTTTGGTGTTTGC -3'
Posted On 2017-02-28