Incidental Mutation 'R6104:Il17a'
ID 485405
Institutional Source Beutler Lab
Gene Symbol Il17a
Ensembl Gene ENSMUSG00000025929
Gene Name interleukin 17A
Synonyms IL-17A, Il17, Ctla-8, Ctla8
MMRRC Submission 044254-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6104 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 20801129-20804720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20802498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 69 (Y69C)
Ref Sequence ENSEMBL: ENSMUSP00000027061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027061]
AlphaFold Q62386
Predicted Effect probably damaging
Transcript: ENSMUST00000027061
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027061
Gene: ENSMUSG00000025929
AA Change: Y69C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:IL17 72 150 3.9e-30 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a pro-inflammatory cytokine that is a member of the interleukin-17 family. The encoded protein plays a central role in host defense against diverse pathogens. The encoded protein is produced by activated T-cells and certain cell types of innate immune system. The active protein functions as either a homodimer with other interleukin-17 family members and signals through the interleukin-17 receptor to induce inflammatory cytokine production. Aberrant expression of this gene is associated with autoinflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced contact, delayed-type and airway hypersensitivity responses and impaired T-dependent antibody production. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(7)
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A T 4: 106,613,094 (GRCm39) L327Q probably damaging Het
Atrip C T 9: 108,894,632 (GRCm39) A432T possibly damaging Het
Chd6 T C 2: 160,856,052 (GRCm39) T736A probably damaging Het
Cyp1b1 T A 17: 80,017,634 (GRCm39) Y507F probably damaging Het
Desi2 G A 1: 178,077,018 (GRCm39) R174H probably benign Het
Dop1a A T 9: 86,402,860 (GRCm39) K1351N possibly damaging Het
Fads2b T A 2: 85,338,693 (GRCm39) K149* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fzd2 T C 11: 102,497,161 (GRCm39) I535T probably damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Itgam A G 7: 127,715,474 (GRCm39) D938G possibly damaging Het
Kmt2c T C 5: 25,504,127 (GRCm39) D316G probably benign Het
Lrba C A 3: 86,261,099 (GRCm39) A1485E probably damaging Het
Marf1 G A 16: 13,935,319 (GRCm39) T1483I probably damaging Het
Myo18b T C 5: 113,022,157 (GRCm39) probably benign Het
Myo5b T A 18: 74,833,750 (GRCm39) I842N probably benign Het
Nckap5l C T 15: 99,321,869 (GRCm39) S1092N probably benign Het
Nelfcd T C 2: 174,265,250 (GRCm39) S273P probably damaging Het
Nt5c1b A G 12: 10,422,955 (GRCm39) N83D probably damaging Het
Oas3 T A 5: 120,899,758 (GRCm39) I709F unknown Het
Or1p1 C A 11: 74,180,192 (GRCm39) T240N probably damaging Het
Or8i2 T C 2: 86,852,057 (GRCm39) Y277C probably damaging Het
Pogz A G 3: 94,787,342 (GRCm39) D1310G probably benign Het
Ppfia1 A G 7: 144,045,311 (GRCm39) S949P possibly damaging Het
Pxylp1 A C 9: 96,706,800 (GRCm39) F461V possibly damaging Het
Rcn3 A G 7: 44,740,947 (GRCm39) Y54H probably damaging Het
Rnpepl1 A G 1: 92,843,606 (GRCm39) H242R probably benign Het
Rps6ka5 A T 12: 100,519,407 (GRCm39) D735E possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Scn11a A G 9: 119,624,744 (GRCm39) I526T probably damaging Het
Slc29a3 A G 10: 60,556,781 (GRCm39) V211A possibly damaging Het
Syt10 A T 15: 89,711,067 (GRCm39) H155Q probably benign Het
Taar8b A T 10: 23,968,135 (GRCm39) S20T probably damaging Het
Tenm4 A T 7: 96,486,496 (GRCm39) I988F probably damaging Het
Thoc2l T A 5: 104,666,084 (GRCm39) I202K probably damaging Het
Tlr3 A G 8: 45,856,130 (GRCm39) S17P probably benign Het
Tmem87a A G 2: 120,224,905 (GRCm39) S119P probably benign Het
Topaz1 A G 9: 122,578,931 (GRCm39) T614A probably benign Het
Vmn2r80 A C 10: 78,984,854 (GRCm39) N69H probably benign Het
Xylb T A 9: 119,193,573 (GRCm39) *66R probably null Het
Ylpm1 G A 12: 85,076,404 (GRCm39) R1043H probably benign Het
Ythdf3 G A 3: 16,259,325 (GRCm39) V491I possibly damaging Het
Other mutations in Il17a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00496:Il17a APN 1 20,802,507 (GRCm39) missense probably damaging 1.00
IGL01767:Il17a APN 1 20,803,864 (GRCm39) missense probably benign 0.03
seventeenager UTSW 1 20,803,870 (GRCm39) nonsense probably null
R0057:Il17a UTSW 1 20,803,881 (GRCm39) missense probably damaging 1.00
R4597:Il17a UTSW 1 20,801,217 (GRCm39) splice site probably null
R5436:Il17a UTSW 1 20,803,870 (GRCm39) nonsense probably null
R5774:Il17a UTSW 1 20,803,997 (GRCm39) missense probably benign 0.00
R5932:Il17a UTSW 1 20,803,977 (GRCm39) missense probably damaging 1.00
R7142:Il17a UTSW 1 20,802,327 (GRCm39) missense probably benign
R7838:Il17a UTSW 1 20,802,351 (GRCm39) missense probably benign
R7989:Il17a UTSW 1 20,802,438 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTGTTGCTGCTGCTGAGCC -3'
(R):5'- TTGACCACTATAACAGGTTAGGG -3'

Sequencing Primer
(F):5'- CTGGCGGCTACAGTGAAG -3'
(R):5'- GCTCTATCCAAGAACTCTGTAGAGG -3'
Posted On 2017-08-16