Incidental Mutation 'R2344:Il6'
ID 245919
Institutional Source Beutler Lab
Gene Symbol Il6
Ensembl Gene ENSMUSG00000025746
Gene Name interleukin 6
Synonyms Il-6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R2344 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 30218112-30224973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30219854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 77 (M77L)
Ref Sequence ENSEMBL: ENSMUSP00000143293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026845] [ENSMUST00000195978] [ENSMUST00000199183] [ENSMUST00000199765]
AlphaFold P08505
Predicted Effect probably benign
Transcript: ENSMUST00000026845
AA Change: M77L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: M77L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 209 2.1e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195978
AA Change: M77L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: M77L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 162 5.8e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199183
AA Change: M77L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: M77L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 175 3.9e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199765
AA Change: M60L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: M60L

DomainStartEndE-ValueType
IL6 38 192 2.1e-98 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b A G 13: 14,328,075 (GRCm39) Q247R probably benign Het
Bend7 A T 2: 4,793,345 (GRCm39) D383V probably damaging Het
Calm4 A G 13: 3,888,298 (GRCm39) K135E possibly damaging Het
Cdh23 T C 10: 60,152,503 (GRCm39) D2412G probably damaging Het
Col6a5 T C 9: 105,805,736 (GRCm39) T1057A unknown Het
Dpf3 T G 12: 83,397,594 (GRCm39) D90A probably damaging Het
Dtl A T 1: 191,280,490 (GRCm39) M348K probably benign Het
Elmo3 T C 8: 106,035,793 (GRCm39) Y558H probably damaging Het
Epha3 C T 16: 63,472,746 (GRCm39) V79I possibly damaging Het
Ercc5 T C 1: 44,206,329 (GRCm39) M414T probably benign Het
Fam217a T C 13: 35,094,318 (GRCm39) I389M probably damaging Het
Fsip2 T C 2: 82,820,257 (GRCm39) F5330S possibly damaging Het
Grin2a T C 16: 9,481,099 (GRCm39) I533V probably benign Het
Gsdma2 T C 11: 98,546,417 (GRCm39) L167P probably damaging Het
Gys2 A T 6: 142,391,748 (GRCm39) F505I probably damaging Het
Or6c76b A T 10: 129,692,410 (GRCm39) T8S probably benign Het
Pgm2l1 A G 7: 99,909,115 (GRCm39) I194V probably damaging Het
Rbpjl G T 2: 164,256,312 (GRCm39) V433L probably damaging Het
Rps10 C G 17: 27,853,081 (GRCm39) R96P possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Supt16 T C 14: 52,415,575 (GRCm39) T387A probably benign Het
Usf3 C T 16: 44,036,414 (GRCm39) T298M probably benign Het
Usp49 T C 17: 47,983,828 (GRCm39) F278L probably damaging Het
Zfp729b A G 13: 67,740,352 (GRCm39) C648R 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
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
R5858:Il6 UTSW 5 30,218,472 (GRCm39) missense possibly damaging 0.67
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'- CTTAGGAGAGTAACAAGCTTAAAGCC -3'
(R):5'- CTTTGTTGCCTGACTGGGAC -3'

Sequencing Primer
(F):5'- CTTAAAGCCAAGGGACTGAGCC -3'
(R):5'- CCTGACTGGGACTGTACAAATGC -3'
Posted On 2014-10-30