Incidental Mutation 'R5198:Il17c'
ID 400489
Institutional Source Beutler Lab
Gene Symbol Il17c
Ensembl Gene ENSMUSG00000046108
Gene Name interleukin 17C
Synonyms IL-17C
MMRRC Submission 042774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R5198 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123148759-123150378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123149108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000056008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017604] [ENSMUST00000050963] [ENSMUST00000127664] [ENSMUST00000212600]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000017604
SMART Domains Protein: ENSMUSP00000017604
Gene: ENSMUSG00000006519

DomainStartEndE-ValueType
Pfam:Cytochrom_B558a 2 190 7.8e-110 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000050963
AA Change: D84G

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056008
Gene: ENSMUSG00000046108
AA Change: D84G

DomainStartEndE-ValueType
Pfam:IL17 88 176 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212822
Meta Mutation Damage Score 0.2080 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced psoriasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,726 (GRCm39) V1121A probably benign Het
Adamtsl3 A C 7: 82,261,006 (GRCm39) K1647Q possibly damaging Het
Adgrb1 A T 15: 74,415,550 (GRCm39) Q710L probably null Het
Alox12 T C 11: 70,145,243 (GRCm39) E110G probably damaging Het
Cep152 T A 2: 125,429,544 (GRCm39) M738L probably benign Het
Cma2 T C 14: 56,209,532 (GRCm39) V38A probably benign Het
Dlc1 C T 8: 37,405,552 (GRCm39) G79D probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dus3l A G 17: 57,076,574 (GRCm39) I585V probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fbxw15 C A 9: 109,387,242 (GRCm39) S251I probably benign Het
Gata4 G A 14: 63,437,900 (GRCm39) S417L probably benign Het
Gdpd5 T A 7: 99,087,515 (GRCm39) Y60N probably damaging Het
Gm17669 T C 18: 67,695,626 (GRCm39) M57T probably benign Het
Gpr39 A T 1: 125,605,173 (GRCm39) I34F probably benign Het
Iffo2 T A 4: 139,302,528 (GRCm39) D90E probably benign Het
Itih3 T C 14: 30,634,606 (GRCm39) T134A probably benign Het
Lama2 G A 10: 27,222,999 (GRCm39) A429V probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mug1 G A 6: 121,851,521 (GRCm39) R806H probably damaging Het
Naaa G A 5: 92,415,904 (GRCm39) R65* probably null Het
Nacc2 C T 2: 25,950,346 (GRCm39) M463I probably benign Het
Nemf A G 12: 69,402,821 (GRCm39) S72P probably damaging Het
Nudt7 G A 8: 114,862,185 (GRCm39) probably null Het
Or4b1b T C 2: 90,126,737 (GRCm39) Q156R probably damaging Het
Or52z15 T C 7: 103,331,936 (GRCm39) S4P probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T C 19: 5,189,325 (GRCm39) D757G probably benign Het
Pkd2 A C 5: 104,630,958 (GRCm39) I461L probably benign Het
Potegl G A 2: 23,102,473 (GRCm39) C121Y probably damaging Het
Pramel5 T G 4: 144,000,064 (GRCm39) probably benign Het
Ptgdr G C 14: 45,096,300 (GRCm39) F137L probably damaging Het
Pum1 T A 4: 130,507,190 (GRCm39) C1085* probably null Het
Rfx3 T C 19: 27,808,176 (GRCm39) D189G probably damaging Het
Rlf T A 4: 121,005,750 (GRCm39) K1077* probably null Het
Slc25a30 C A 14: 76,007,056 (GRCm39) D147Y probably benign Het
Smap2 T C 4: 120,873,984 (GRCm39) E22G possibly damaging Het
Szt2 T C 4: 118,245,519 (GRCm39) T1098A probably benign Het
Tbcc T C 17: 47,201,788 (GRCm39) F58S probably damaging Het
Tekt3 G A 11: 62,961,134 (GRCm39) R101H probably damaging Het
Vcan T A 13: 89,838,991 (GRCm39) E2184D probably damaging Het
Vkorc1 T C 7: 127,493,760 (GRCm39) E18G probably benign Het
Vmn1r68 T C 7: 10,261,723 (GRCm39) H125R probably benign Het
Vmn2r63 C A 7: 42,553,169 (GRCm39) V696L probably benign Het
Wdr59 G A 8: 112,208,620 (GRCm39) H421Y probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp112 T C 7: 23,824,281 (GRCm39) V83A possibly damaging Het
Zfp616 G A 11: 73,974,336 (GRCm39) V293I probably benign Het
Other mutations in Il17c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Il17c APN 8 123,148,862 (GRCm39) missense probably benign 0.34
R5829:Il17c UTSW 8 123,148,970 (GRCm39) missense probably damaging 1.00
R8681:Il17c UTSW 8 123,150,207 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- CTGAGAACAGGCAACCTTGG -3'
(R):5'- CCAGCTTCTTAGGGGAACATG -3'

Sequencing Primer
(F):5'- TGAGGAATTATCTCACGGCC -3'
(R):5'- AGCTTCTTAGGGGAACATGTTTTTAG -3'
Posted On 2016-07-06