Incidental Mutation 'IGL01549:Il6'
ID90552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il6
Ensembl Gene ENSMUSG00000025746
Gene Nameinterleukin 6
SynonymsIl-6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.371) question?
Stock #IGL01549
Quality Score
Status
Chromosome5
Chromosomal Location30013114-30019981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30019471 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 170 (T170A)
Ref Sequence ENSEMBL: ENSMUSP00000143157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026845] [ENSMUST00000195978] [ENSMUST00000199183] [ENSMUST00000199765]
Predicted Effect probably benign
Transcript: ENSMUST00000026845
AA Change: T187A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: T187A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 209 2.1e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195978
SMART Domains Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 162 5.8e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199183
SMART Domains Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 175 3.9e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199765
AA Change: T170A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: T170A

DomainStartEndE-ValueType
IL6 38 192 2.1e-98 SMART
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,468,035 V259I possibly damaging Het
Abhd4 C T 14: 54,267,132 T273I probably damaging Het
Adamtsl3 T C 7: 82,612,448 S1691P probably damaging Het
Anapc1 A G 2: 128,653,170 S901P probably benign Het
Ank3 C T 10: 69,932,420 S56F probably damaging Het
Ccdc74a A G 16: 17,650,542 S343G probably benign Het
Clec7a A T 6: 129,472,677 Y3* probably null Het
Itgax C A 7: 128,131,206 probably null Het
Lrrc17 A T 5: 21,570,290 R283S probably benign Het
Muc1 C T 3: 89,231,810 P533S probably damaging Het
Olfr1084 A C 2: 86,639,361 S116A probably benign Het
Olfr1084 T C 2: 86,639,532 M59V possibly damaging Het
Olfr1226 C T 2: 89,193,789 V82I probably benign Het
Olfr1426 T A 19: 12,087,965 I276F probably benign Het
Olfr16 T C 1: 172,956,974 Y60H probably damaging Het
Olfr702 T C 7: 106,824,029 I166V probably benign Het
Pcnt A C 10: 76,367,486 probably null Het
Pde4b A T 4: 102,605,068 D647V probably damaging Het
Phldb2 T C 16: 45,774,318 M875V probably benign Het
Prkar2b T C 12: 32,061,072 E4G possibly damaging Het
Rab2a C A 4: 8,582,393 S125Y probably benign Het
Samm50 A G 15: 84,202,781 I264V probably benign Het
Sgsh C T 11: 119,350,929 A90T probably damaging Het
Tap2 A G 17: 34,214,329 T489A probably benign Het
Wdr38 T G 2: 39,000,718 S201R probably damaging Het
Zfhx4 A G 3: 5,399,462 D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 T568A probably damaging Het
Other mutations in Il6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Il6 APN 5 30014841 missense probably benign 0.06
IGL01085:Il6 APN 5 30013489 missense probably damaging 0.98
R1510:Il6 UTSW 5 30018062 missense probably damaging 0.96
R1721:Il6 UTSW 5 30013492 missense possibly damaging 0.90
R1774:Il6 UTSW 5 30019435 missense probably benign
R2018:Il6 UTSW 5 30014947 critical splice donor site probably null
R2153:Il6 UTSW 5 30013504 nonsense probably null
R2344:Il6 UTSW 5 30014856 missense probably benign 0.00
R3889:Il6 UTSW 5 30018068 missense possibly damaging 0.57
R4743:Il6 UTSW 5 30018044 missense probably damaging 0.96
R4769:Il6 UTSW 5 30018078 nonsense probably null
R4965:Il6 UTSW 5 30013493 missense possibly damaging 0.53
R5024:Il6 UTSW 5 30019514 missense probably damaging 1.00
R5817:Il6 UTSW 5 30018008 missense probably benign
R5858:Il6 UTSW 5 30013474 missense possibly damaging 0.67
R6886:Il6 UTSW 5 30018203 intron probably benign
R7254:Il6 UTSW 5 30014908 missense probably benign 0.09
Posted On2013-12-09