Incidental Mutation 'IGL01085:Il6'
ID51071
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: 0.418) question?
Stock #IGL01085
Quality Score
Status
Chromosome5
Chromosomal Location30013114-30019981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 30013489 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 28 (V28F)
Ref Sequence ENSEMBL: ENSMUSP00000143157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026845] [ENSMUST00000195978] [ENSMUST00000199183] [ENSMUST00000199765]
Predicted Effect probably damaging
Transcript: ENSMUST00000026845
AA Change: V45F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: V45F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 209 2.1e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195978
AA Change: V45F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: V45F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 162 5.8e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199183
AA Change: V45F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: V45F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 175 3.9e-48 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199765
AA Change: V28F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: V28F

DomainStartEndE-ValueType
IL6 38 192 2.1e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200055
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,037,342 probably benign Het
Acp7 T C 7: 28,611,053 Y453C probably damaging Het
Bop1 T C 15: 76,453,376 D683G probably damaging Het
Cacna1b G T 2: 24,678,994 R974S probably damaging Het
Cenpt T C 8: 105,846,665 E350G possibly damaging Het
Cep112 G T 11: 108,486,606 R270L probably damaging Het
Crem T C 18: 3,299,236 T26A probably damaging Het
Crot T C 5: 8,973,955 H387R probably damaging Het
Fdxr A T 11: 115,269,576 V351E probably benign Het
Fkbpl T C 17: 34,645,744 L162P probably damaging Het
Fmn2 T A 1: 174,695,654 N1358K probably damaging Het
Gm5155 A T 7: 17,915,691 H729L possibly damaging Het
Hectd4 G T 5: 121,331,701 G2553V probably damaging Het
Ifna16 A T 4: 88,676,732 I42K probably benign Het
Igfals C T 17: 24,881,660 T575I probably benign Het
Irx1 A G 13: 71,959,697 S289P probably benign Het
Ncoa2 T C 1: 13,149,079 T1245A possibly damaging Het
Nr3c2 G T 8: 76,908,354 R28L probably benign Het
Nudt5 G A 2: 5,864,427 V155I probably benign Het
Olfr12 G T 1: 92,620,199 V98F possibly damaging Het
Pcm1 T C 8: 41,309,603 S1395P probably damaging Het
Pkhd1l1 G A 15: 44,562,752 probably null Het
Prodh A T 16: 18,076,344 V339E probably damaging Het
Rbm48 C T 5: 3,584,762 V401M probably benign Het
Retreg3 G A 11: 101,100,925 Q61* probably null Het
Rif1 A G 2: 52,085,140 M354V possibly damaging Het
Rrn3 G A 16: 13,809,062 V507M probably damaging Het
Safb2 T A 17: 56,565,242 R197* probably null Het
Slc22a26 A G 19: 7,790,099 V314A probably benign Het
Slfnl1 G T 4: 120,533,356 R68L probably damaging Het
Spata1 G T 3: 146,476,242 Q10K possibly damaging Het
Swi5 T C 2: 32,280,727 M95V possibly damaging Het
Thpo T C 16: 20,728,455 D52G probably damaging Het
Tmem101 A T 11: 102,154,660 L121Q probably damaging Het
Trim40 T C 17: 36,883,241 I187V probably benign Het
Usp33 A G 3: 152,368,569 K351E possibly damaging Het
Uvrag T C 7: 99,118,224 T67A probably damaging Het
Vcan T C 13: 89,679,958 D2163G probably damaging Het
Wnt7a C T 6: 91,408,789 V61I probably benign Het
Zfp804b A G 5: 6,770,931 S675P probably damaging Het
Other mutations in Il6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Il6 APN 5 30014841 missense probably benign 0.06
IGL01549:Il6 APN 5 30019471 missense probably benign 0.01
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 On2013-06-21