Incidental Mutation 'IGL02988:Il6st'
ID 453512
Institutional Source Beutler Lab
Gene Symbol Il6st
Ensembl Gene ENSMUSG00000021756
Gene Name interleukin 6 signal transducer
Synonyms 5133400A03Rik, CD130, gp130, D13Ertd699e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02988 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 112600604-112643394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112635420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 611 (F611L)
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 damaging
Transcript: ENSMUST00000070731
AA Change: F611L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: F611L

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 damaging
Transcript: ENSMUST00000183663
AA Change: F611L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: F611L

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
SMART Domains Protein: ENSMUSP00000138987
Gene: ENSMUSG00000021756

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
SMART Domains Protein: ENSMUSP00000139060
Gene: ENSMUSG00000021756

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 damaging
Transcript: ENSMUST00000184311
AA Change: F611L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: F611L

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
SMART Domains Protein: ENSMUSP00000139311
Gene: ENSMUSG00000021756

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 damaging
Transcript: ENSMUST00000184949
AA Change: F550L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756
AA Change: F550L

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
Meta Mutation Damage Score 0.2804 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably damaging 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
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
R5104:Il6st UTSW 13 112,625,182 (GRCm39) missense probably benign 0.02
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'- GGACAGATAAGTCAAATACTTTGGG -3'
(R):5'- CTGTACCGGATAAGCAAGCG -3'

Sequencing Primer
(F):5'- GGGTAAAAGAACTGTTGTTTCTCC -3'
(R):5'- GGATAAGCAAGCGTCCCTC -3'
Posted On 2017-02-08