Incidental Mutation 'IGL00976:Il6'
ID27530
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: 0.303) question?
Stock #IGL00976
Quality Score
Status
Chromosome5
Chromosomal Location30013114-30019981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30014841 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 72 (G72S)
Ref Sequence ENSEMBL: ENSMUSP00000143293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026845] [ENSMUST00000195978] [ENSMUST00000199183] [ENSMUST00000199765]
Predicted Effect probably benign
Transcript: ENSMUST00000026845
AA Change: G72S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000026845
Gene: ENSMUSG00000025746
AA Change: G72S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 209 2.1e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195978
AA Change: G72S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143544
Gene: ENSMUSG00000025746
AA Change: G72S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 162 5.8e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199183
AA Change: G72S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143293
Gene: ENSMUSG00000025746
AA Change: G72S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IL6 55 175 3.9e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199765
AA Change: G55S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143157
Gene: ENSMUSG00000025746
AA Change: G55S

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Katnal2 T C 18: 77,017,493 Y86C probably damaging Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in Il6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Il6 APN 5 30013489 missense probably damaging 0.98
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 On2013-04-17