Incidental Mutation 'R5858:Il6'
ID 455001
Institutional Source Beutler Lab
Gene Symbol Il6
Ensembl Gene ENSMUSG00000025746
Gene Name interleukin 6
Synonyms Il-6
MMRRC Submission 044070-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R5858 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 30218112-30224973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30218472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 23 (T23S)
Ref Sequence ENSEMBL: ENSMUSP00000143157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026845] [ENSMUST00000195978] [ENSMUST00000199183] [ENSMUST00000199765]
AlphaFold P08505
Predicted Effect possibly damaging
Transcript: ENSMUST00000026845
AA Change: T40S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: T40S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 209 2.1e-98 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195978
AA Change: T40S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: T40S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 162 5.8e-44 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199183
AA Change: T40S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: T40S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 175 3.9e-48 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199765
AA Change: T23S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: T23S

DomainStartEndE-ValueType
IL6 38 192 2.1e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200055
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: This gene encodes a member of the interleukin family of cytokines that have important functions in immune response, hematopoiesis, inflammation and the acute phase response. The ectopic overexpression of the encoded protein in mice results in excessive plasma cells in circulation, leading to death. Mice lacking the encoded protein exhibit abnormalities in hepatic acute phase response, some immune mechanisms, bone resorption in response to estrogen, liver regeneration and wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,781,343 (GRCm39) Q102L probably benign Het
Ak9 G A 10: 41,299,023 (GRCm39) V1575I unknown Het
Alg14 G A 3: 121,113,737 (GRCm39) probably benign Het
Arl5a T C 2: 52,302,118 (GRCm39) I99V probably benign Het
Cacul1 T C 19: 60,517,482 (GRCm39) probably benign Het
Cc2d2a C T 5: 43,873,117 (GRCm39) R934C probably damaging Het
Ccr2 A G 9: 123,906,464 (GRCm39) E248G probably benign Het
Cds2 G T 2: 132,144,033 (GRCm39) V287L probably benign Het
Cflar T C 1: 58,793,010 (GRCm39) S459P probably benign Het
Clcc1 A G 3: 108,568,744 (GRCm39) D21G probably damaging Het
Col8a2 C T 4: 126,205,093 (GRCm39) probably benign Het
Cops7a A T 6: 124,937,134 (GRCm39) S186T possibly damaging Het
Dagla C T 19: 10,232,332 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,292 (GRCm39) Y49C possibly damaging Het
Dnase1 T C 16: 3,857,513 (GRCm39) probably benign Het
Dock9 A G 14: 121,866,204 (GRCm39) V633A probably benign Het
E4f1 A G 17: 24,664,302 (GRCm39) F461L probably damaging Het
Epg5 T A 18: 77,991,514 (GRCm39) C70* probably null Het
Ephb2 T C 4: 136,399,756 (GRCm39) H589R probably benign Het
Fam184b A T 5: 45,796,461 (GRCm39) C41S probably damaging Het
Hace1 A G 10: 45,587,621 (GRCm39) T907A possibly damaging Het
Il31 T A 5: 123,618,637 (GRCm39) T129S probably benign Het
Kif12 T C 4: 63,084,647 (GRCm39) E557G probably benign Het
Krt24 A T 11: 99,175,591 (GRCm39) L148H probably damaging Het
Mapk8ip1 A G 2: 92,215,317 (GRCm39) F635S probably damaging Het
Mcc A T 18: 44,643,208 (GRCm39) V313E probably damaging Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Nbea A G 3: 55,860,455 (GRCm39) probably null Het
Or12e10 A T 2: 87,640,985 (GRCm39) I274F probably benign Het
Or2ag1 T A 7: 106,472,975 (GRCm39) Y159F probably benign Het
Or2m13 A G 16: 19,225,975 (GRCm39) S265P possibly damaging Het
Or5b94 A G 19: 12,651,743 (GRCm39) Y58C probably damaging Het
P4ha1 A T 10: 59,175,200 (GRCm39) L53F probably damaging Het
Pcdha7 A G 18: 37,109,279 (GRCm39) D768G probably damaging Het
Pdzd2 T A 15: 12,442,675 (GRCm39) D208V probably damaging Het
Ptk2 A T 15: 73,192,944 (GRCm39) I159K probably benign Het
Rfx6 A G 10: 51,601,964 (GRCm39) N761S probably benign Het
Rpp25l A T 4: 41,712,678 (GRCm39) D32E probably benign Het
Rxrg A T 1: 167,454,925 (GRCm39) K169N probably damaging Het
Ryr2 T C 13: 11,575,460 (GRCm39) D4846G probably damaging Het
Sec23a A G 12: 59,019,821 (GRCm39) F553S probably damaging Het
Spen T C 4: 141,201,182 (GRCm39) I2482V probably benign Het
Ston1 A G 17: 88,943,059 (GRCm39) D155G possibly damaging Het
Tha1 A G 11: 117,764,210 (GRCm39) F6L unknown Het
Trank1 T A 9: 111,221,604 (GRCm39) D2780E probably benign Het
Ubqln5 T C 7: 103,778,018 (GRCm39) T269A probably benign Het
Vars1 C T 17: 35,224,451 (GRCm39) R324C probably benign Het
Zfp287 T A 11: 62,604,833 (GRCm39) Q691H probably damaging Het
Other mutations in Il6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Il6 APN 5 30,219,839 (GRCm39) missense probably benign 0.06
IGL01085:Il6 APN 5 30,218,487 (GRCm39) missense probably damaging 0.98
IGL01549:Il6 APN 5 30,224,469 (GRCm39) missense probably benign 0.01
R1510:Il6 UTSW 5 30,223,060 (GRCm39) missense probably damaging 0.96
R1721:Il6 UTSW 5 30,218,490 (GRCm39) missense possibly damaging 0.90
R1774:Il6 UTSW 5 30,224,433 (GRCm39) missense probably benign
R2018:Il6 UTSW 5 30,219,945 (GRCm39) critical splice donor site probably null
R2153:Il6 UTSW 5 30,218,502 (GRCm39) nonsense probably null
R2344:Il6 UTSW 5 30,219,854 (GRCm39) missense probably benign 0.00
R3889:Il6 UTSW 5 30,223,066 (GRCm39) missense possibly damaging 0.57
R4743:Il6 UTSW 5 30,223,042 (GRCm39) missense probably damaging 0.96
R4769:Il6 UTSW 5 30,223,076 (GRCm39) nonsense probably null
R4965:Il6 UTSW 5 30,218,491 (GRCm39) missense possibly damaging 0.53
R5024:Il6 UTSW 5 30,224,512 (GRCm39) missense probably damaging 1.00
R5817:Il6 UTSW 5 30,223,006 (GRCm39) missense probably benign
R6886:Il6 UTSW 5 30,223,201 (GRCm39) intron probably benign
R7254:Il6 UTSW 5 30,219,906 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGAGCCAGCATTGTGGGTTG -3'
(R):5'- CTGACCTTTAGCTTCAAATCCTAAG -3'

Sequencing Primer
(F):5'- CATTGTGGGTTGGCCAGCAG -3'
(R):5'- TTAGCTTCAAATCCTAAGGGCCCTAG -3'
Posted On 2017-02-10