Incidental Mutation 'R5104:Il6st'
ID 392583
Institutional Source Beutler Lab
Gene Symbol Il6st
Ensembl Gene ENSMUSG00000021756
Gene Name interleukin 6 signal transducer
Synonyms 5133400A03Rik, CD130, gp130, D13Ertd699e
MMRRC Submission 042692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5104 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 112600604-112643394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 112625182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 266 (T266S)
Ref Sequence ENSEMBL: ENSMUSP00000139227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070731] [ENSMUST00000183513] [ENSMUST00000183663] [ENSMUST00000183829] [ENSMUST00000184276] [ENSMUST00000184311] [ENSMUST00000184445] [ENSMUST00000184949]
AlphaFold Q00560
Predicted Effect probably benign
Transcript: ENSMUST00000070731
AA Change: T266S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 26 112 1.4e-30 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
FN3 324 407 1.07e1 SMART
FN3 422 503 6.1e0 SMART
FN3 517 600 4.81e-4 SMART
transmembrane domain 618 640 N/A INTRINSIC
low complexity region 718 753 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183513
SMART Domains Protein: ENSMUSP00000139016
Gene: ENSMUSG00000021756

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183663
AA Change: T266S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 24 114 1.2e-32 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
FN3 324 407 1.07e1 SMART
FN3 422 503 6.1e0 SMART
FN3 517 600 4.81e-4 SMART
transmembrane domain 618 640 N/A INTRINSIC
low complexity region 718 753 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183829
AA Change: T102S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138987
Gene: ENSMUSG00000021756
AA Change: T102S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PDB:1I1R|A 23 52 7e-8 PDB
FN3 56 142 7.23e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184276
AA Change: T266S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000139060
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 24 114 2.3e-33 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184311
AA Change: T266S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 24 114 1.2e-32 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
FN3 324 407 1.07e1 SMART
FN3 422 503 6.1e0 SMART
FN3 517 600 4.81e-4 SMART
transmembrane domain 618 640 N/A INTRINSIC
low complexity region 718 753 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184445
AA Change: T266S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139311
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 24 114 2e-33 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184949
AA Change: T266S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756
AA Change: T266S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Lep_receptor_Ig 24 114 9.4e-33 PFAM
FN3 126 205 1.15e1 SMART
FN3 220 306 7.23e-8 SMART
FN3 324 442 6.97e0 SMART
FN3 456 539 4.81e-4 SMART
transmembrane domain 557 579 N/A INTRINSIC
low complexity region 657 692 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for targeted null mutations show myocardial and hematological defects and die between embryonic day 12.5 and term. Conditional mutants show female infertility and neurological, cardiac, hematopoietic, immunological, hepatic, and lung defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,158,121 (GRCm39) F109L probably damaging Het
Ano4 T A 10: 88,903,974 (GRCm39) Q241L possibly damaging Het
Apof C T 10: 128,105,487 (GRCm39) R214* probably null Het
Armh4 A T 14: 50,010,929 (GRCm39) D259E possibly damaging Het
Atl2 A T 17: 80,160,046 (GRCm39) S47T probably benign Het
Azgp1 T G 5: 137,985,815 (GRCm39) I146S probably damaging Het
Bicral G A 17: 47,112,182 (GRCm39) T1006I probably damaging Het
Ccdc110 A T 8: 46,395,729 (GRCm39) N540I probably damaging Het
Ccdc77 T C 6: 120,325,346 (GRCm39) probably null Het
Cxcr5 G T 9: 44,424,616 (GRCm39) P347Q probably benign Het
Cyp4a14 T G 4: 115,353,126 (GRCm39) H62P probably damaging Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Ehd3 A G 17: 74,134,442 (GRCm39) N267S probably benign Het
Eno4 A G 19: 58,933,973 (GRCm39) Y58C probably benign Het
Fat2 A G 11: 55,169,814 (GRCm39) Y2982H possibly damaging Het
Frmd3 C A 4: 74,063,315 (GRCm39) A214D probably damaging Het
Gabrg1 A C 5: 70,931,775 (GRCm39) S323A probably damaging Het
Gbp9 T C 5: 105,228,007 (GRCm39) I592V probably benign Het
Gje1 G A 10: 14,592,462 (GRCm39) Q107* probably null Het
Gm29609 T C 5: 31,311,638 (GRCm39) probably null Het
Gpam A T 19: 55,082,418 (GRCm39) F78I probably benign Het
Hecw1 T C 13: 14,515,377 (GRCm39) R252G probably damaging Het
Hsd3b5 T A 3: 98,526,592 (GRCm39) S285C probably damaging Het
Ighv1-74 T C 12: 115,766,507 (GRCm39) K37E possibly damaging Het
Igkv8-34 T C 6: 70,021,138 (GRCm39) D108G probably damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kit A G 5: 75,776,138 (GRCm39) T307A probably benign Het
Kmt2b G A 7: 30,269,265 (GRCm39) R2552C probably damaging Het
Krt4 T A 15: 101,828,758 (GRCm39) R369W probably damaging Het
Larp4 T A 15: 99,883,964 (GRCm39) M8K probably damaging Het
Lrit3 T A 3: 129,582,040 (GRCm39) H528L possibly damaging Het
Mia3 A G 1: 183,119,579 (GRCm39) L157S probably damaging Het
Naa16 A T 14: 79,622,140 (GRCm39) Y32* probably null Het
Nbea A G 3: 55,987,348 (GRCm39) Y381H probably damaging Het
Nelfcd T C 2: 174,268,159 (GRCm39) V475A probably benign Het
Noxa1 T C 2: 24,976,246 (GRCm39) I347M probably benign Het
Or11h4b T A 14: 50,918,159 (GRCm39) K311* probably null Het
Or2ag17 A T 7: 106,389,539 (GRCm39) F223Y possibly damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or2y3 A T 17: 38,393,174 (GRCm39) S232T possibly damaging Het
Pabpc1l T A 2: 163,885,507 (GRCm39) I420K probably benign Het
Pi4ka C T 16: 17,098,914 (GRCm39) C1990Y probably damaging Het
Pkhd1 T A 1: 20,655,415 (GRCm39) Q223L probably damaging Het
Pkm G T 9: 59,575,964 (GRCm39) probably null Het
Proz A G 8: 13,116,931 (GRCm39) D161G probably damaging Het
Ptprb C A 10: 116,158,364 (GRCm39) H765Q probably benign Het
Relch T C 1: 105,658,965 (GRCm39) V883A probably benign Het
Rffl A T 11: 82,703,619 (GRCm39) C101* probably null Het
Rfx5 C T 3: 94,862,451 (GRCm39) T36I probably benign Het
Rnase12 C A 14: 51,294,361 (GRCm39) C106F probably damaging Het
Samd3 T C 10: 26,139,686 (GRCm39) S273P possibly damaging Het
Simc1 A G 13: 54,674,175 (GRCm39) D841G probably benign Het
Slc8a3 T C 12: 81,260,908 (GRCm39) E607G probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Snx25 T C 8: 46,521,203 (GRCm39) *143W probably null Het
Taf15 A G 11: 83,378,222 (GRCm39) Y154C probably damaging Het
Tgfb3 A G 12: 86,105,756 (GRCm39) V333A possibly damaging Het
Tiam1 A G 16: 89,614,929 (GRCm39) S2P probably benign Het
Tmed11 T C 5: 108,925,142 (GRCm39) probably null Het
Tmtc4 T C 14: 123,170,257 (GRCm39) D585G probably damaging Het
Trabd2b T C 4: 114,264,114 (GRCm39) S34P probably benign Het
Trbv13-2 T C 6: 41,098,745 (GRCm39) Y107H probably damaging Het
Tuba3a A G 6: 125,259,347 (GRCm39) V115A probably benign Het
Tut1 A G 19: 8,936,698 (GRCm39) E174G probably benign Het
Ubr3 T A 2: 69,768,600 (GRCm39) M469K probably damaging Het
Vcan C T 13: 89,805,591 (GRCm39) probably benign Het
Wapl C T 14: 34,414,016 (GRCm39) Q293* probably null Het
Wdr24 A G 17: 26,043,565 (GRCm39) H129R probably damaging Het
Wrn A T 8: 33,757,895 (GRCm39) probably null Het
Other mutations in Il6st
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Il6st APN 13 112,617,967 (GRCm39) splice site probably null
IGL00571:Il6st APN 13 112,624,394 (GRCm39) missense probably damaging 1.00
IGL01151:Il6st APN 13 112,630,185 (GRCm39) missense probably benign 0.00
IGL01336:Il6st APN 13 112,616,773 (GRCm39) missense possibly damaging 0.71
IGL01501:Il6st APN 13 112,616,593 (GRCm39) missense probably benign 0.22
IGL01512:Il6st APN 13 112,640,900 (GRCm39) missense probably benign 0.36
IGL01657:Il6st APN 13 112,618,077 (GRCm39) missense probably damaging 1.00
IGL01863:Il6st APN 13 112,640,744 (GRCm39) missense possibly damaging 0.88
IGL01916:Il6st APN 13 112,616,606 (GRCm39) missense possibly damaging 0.90
IGL01978:Il6st APN 13 112,633,891 (GRCm39) missense possibly damaging 0.51
IGL02089:Il6st APN 13 112,631,774 (GRCm39) missense probably benign 0.12
IGL02752:Il6st APN 13 112,616,729 (GRCm39) missense probably damaging 0.98
IGL02988:Il6st UTSW 13 112,635,420 (GRCm39) missense probably damaging 1.00
R0019:Il6st UTSW 13 112,637,682 (GRCm39) missense possibly damaging 0.94
R0550:Il6st UTSW 13 112,611,648 (GRCm39) splice site probably null
R0606:Il6st UTSW 13 112,640,806 (GRCm39) missense possibly damaging 0.78
R1126:Il6st UTSW 13 112,640,266 (GRCm39) missense probably damaging 1.00
R1452:Il6st UTSW 13 112,617,998 (GRCm39) missense possibly damaging 0.79
R1581:Il6st UTSW 13 112,618,075 (GRCm39) missense probably damaging 0.99
R1632:Il6st UTSW 13 112,640,866 (GRCm39) missense possibly damaging 0.86
R1881:Il6st UTSW 13 112,640,947 (GRCm39) missense probably damaging 1.00
R2013:Il6st UTSW 13 112,635,423 (GRCm39) missense probably null 0.94
R2043:Il6st UTSW 13 112,616,753 (GRCm39) missense probably benign 0.00
R2128:Il6st UTSW 13 112,640,709 (GRCm39) missense probably benign 0.01
R2137:Il6st UTSW 13 112,639,392 (GRCm39) missense possibly damaging 0.92
R3433:Il6st UTSW 13 112,640,365 (GRCm39) missense probably damaging 1.00
R3696:Il6st UTSW 13 112,640,916 (GRCm39) missense probably benign 0.13
R3697:Il6st UTSW 13 112,640,916 (GRCm39) missense probably benign 0.13
R3698:Il6st UTSW 13 112,640,916 (GRCm39) missense probably benign 0.13
R4172:Il6st UTSW 13 112,631,861 (GRCm39) missense probably benign 0.25
R4543:Il6st UTSW 13 112,617,993 (GRCm39) missense probably damaging 1.00
R4641:Il6st UTSW 13 112,625,064 (GRCm39) missense probably damaging 1.00
R4838:Il6st UTSW 13 112,627,044 (GRCm39) nonsense probably null
R4899:Il6st UTSW 13 112,637,695 (GRCm39) missense probably damaging 1.00
R4922:Il6st UTSW 13 112,639,399 (GRCm39) missense probably damaging 0.98
R5088:Il6st UTSW 13 112,627,089 (GRCm39) missense probably damaging 1.00
R5853:Il6st UTSW 13 112,618,071 (GRCm39) missense probably damaging 1.00
R6602:Il6st UTSW 13 112,640,947 (GRCm39) missense probably damaging 1.00
R7082:Il6st UTSW 13 112,640,566 (GRCm39) missense probably damaging 1.00
R7101:Il6st UTSW 13 112,631,907 (GRCm39) critical splice donor site probably null
R7192:Il6st UTSW 13 112,631,741 (GRCm39) missense probably benign 0.00
R7273:Il6st UTSW 13 112,631,832 (GRCm39) missense probably benign 0.37
R7330:Il6st UTSW 13 112,630,185 (GRCm39) missense probably benign 0.00
R7427:Il6st UTSW 13 112,625,094 (GRCm39) missense probably benign 0.01
R7770:Il6st UTSW 13 112,639,338 (GRCm39) missense probably damaging 1.00
R8086:Il6st UTSW 13 112,631,094 (GRCm39) splice site probably null
R8307:Il6st UTSW 13 112,624,281 (GRCm39) missense probably benign 0.16
R8831:Il6st UTSW 13 112,640,914 (GRCm39) missense probably damaging 1.00
R9041:Il6st UTSW 13 112,611,631 (GRCm39) missense probably benign 0.00
R9189:Il6st UTSW 13 112,635,340 (GRCm39) missense probably damaging 1.00
R9316:Il6st UTSW 13 112,639,349 (GRCm39) missense possibly damaging 0.95
R9409:Il6st UTSW 13 112,640,872 (GRCm39) missense probably benign 0.00
R9763:Il6st UTSW 13 112,627,051 (GRCm39) missense probably damaging 1.00
U24488:Il6st UTSW 13 112,631,168 (GRCm39) missense possibly damaging 0.90
Z1176:Il6st UTSW 13 112,630,152 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTTGCCTTTGGTAAGAGCAATC -3'
(R):5'- AAGGCCACTGTTCTATCTGC -3'

Sequencing Primer
(F):5'- ACAGATCATCATGTGTTTGACTTG -3'
(R):5'- ATCTGCTTGTCTGTCTGTCAG -3'
Posted On 2016-06-15