Incidental Mutation 'R7192:Il6st'
ID 559679
Institutional Source Beutler Lab
Gene Symbol Il6st
Ensembl Gene ENSMUSG00000021756
Gene Name interleukin 6 signal transducer
Synonyms 5133400A03Rik, CD130, gp130, D13Ertd699e
MMRRC Submission 045333-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7192 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 112600604-112643394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112631741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 427 (N427D)
Ref Sequence ENSEMBL: ENSMUSP00000138836 (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: N427D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: N427D

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: N427D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: N427D

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 benign
Transcript: ENSMUST00000184311
AA Change: N427D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: N427D

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 benign
Transcript: ENSMUST00000184949
SMART Domains Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (72/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik G A 2: 30,686,188 (GRCm39) T329I probably damaging Het
Actl6a C A 3: 32,774,373 (GRCm39) P290H probably damaging Het
Akap9 T A 5: 4,055,723 (GRCm39) probably null Het
Anxa2r2 T A 13: 120,488,241 (GRCm39) K103* probably null Het
Bach1 C T 16: 87,526,551 (GRCm39) S671L possibly damaging Het
Cacna1c T C 6: 118,633,210 (GRCm39) I1099V Het
Cage1 G T 13: 38,203,220 (GRCm39) P615T probably benign Het
Caskin2 C A 11: 115,692,202 (GRCm39) R861L probably damaging Het
Cc2d2b A G 19: 40,762,881 (GRCm39) T386A unknown Het
Ccndbp1 A G 2: 120,843,424 (GRCm39) D272G probably damaging Het
Cep192 T A 18: 67,983,599 (GRCm39) V1553E probably damaging Het
Cfhr4 T A 1: 139,667,033 (GRCm39) H414L probably damaging Het
Chrm5 C T 2: 112,310,672 (GRCm39) G148D probably damaging Het
Cntnap4 T C 8: 113,608,432 (GRCm39) V1284A probably benign Het
Cpd T C 11: 76,705,667 (GRCm39) Y355C probably damaging Het
Csmd3 C T 15: 47,567,633 (GRCm39) V1266I Het
Cyfip2 T C 11: 46,145,493 (GRCm39) E609G probably benign Het
Dbr1 T C 9: 99,458,755 (GRCm39) probably null Het
Dmxl1 T C 18: 50,088,920 (GRCm39) Y2800H probably damaging Het
Dnajc6 G T 4: 101,455,000 (GRCm39) A64S probably benign Het
Dpp8 A T 9: 64,953,068 (GRCm39) N248I possibly damaging Het
Dsp A T 13: 38,379,569 (GRCm39) I2105F probably benign Het
Edem1 G A 6: 108,805,965 (GRCm39) V89M probably benign Het
Eml4 A G 17: 83,761,890 (GRCm39) Q528R probably benign Het
Epb42 A T 2: 120,854,578 (GRCm39) V669D unknown Het
Fat4 A T 3: 39,034,613 (GRCm39) Q2755L probably benign Het
Gata6 A G 18: 11,054,475 (GRCm39) K135E possibly damaging Het
Gmeb1 A T 4: 131,955,201 (GRCm39) F325I probably benign Het
H2-M10.3 C T 17: 36,677,451 (GRCm39) E276K probably damaging Het
H4c17 A T 13: 21,996,227 (GRCm39) K92* probably null Het
Ifi207 T C 1: 173,556,584 (GRCm39) N718S not run Het
Kat7 T A 11: 95,166,656 (GRCm39) M509L probably benign Het
Klk1b4 T C 7: 43,859,045 (GRCm39) V21A probably benign Het
Malt1 T A 18: 65,570,898 (GRCm39) L78Q probably benign Het
Mertk A G 2: 128,635,028 (GRCm39) probably null Het
Myo1b A G 1: 51,796,376 (GRCm39) L1016P probably damaging Het
Neu4 A G 1: 93,952,863 (GRCm39) I411V probably benign Het
Nutm2 A T 13: 50,627,105 (GRCm39) D420V probably damaging Het
Or10j3b T A 1: 173,043,575 (GRCm39) M119K probably damaging Het
Or2w2 A G 13: 21,758,539 (GRCm39) L29P probably damaging Het
Or4k1 T C 14: 50,377,577 (GRCm39) E173G possibly damaging Het
Or5ac24 T C 16: 59,165,542 (GRCm39) D174G probably benign Het
Pcdha12 C T 18: 37,153,316 (GRCm39) R12W probably benign Het
Pdgfra G T 5: 75,343,767 (GRCm39) D763Y probably damaging Het
Pkd2 T C 5: 104,634,523 (GRCm39) V518A probably benign Het
Prb1a G T 6: 132,184,335 (GRCm39) P433T unknown Het
Ptrh2 A G 11: 86,580,835 (GRCm39) T151A probably damaging Het
Qars1 T A 9: 108,388,760 (GRCm39) N273K probably damaging Het
Robo2 T C 16: 73,717,638 (GRCm39) Y1154C probably benign Het
Rps6kc1 T A 1: 190,532,556 (GRCm39) D482V probably damaging Het
Sec16b T C 1: 157,357,013 (GRCm39) S74P probably benign Het
Serpinb2 A T 1: 107,452,306 (GRCm39) I295F probably damaging Het
Sh3pxd2b T A 11: 32,364,318 (GRCm39) D301E probably damaging Het
Sipa1l2 G A 8: 126,149,348 (GRCm39) T1637I probably benign Het
Slc27a4 A T 2: 29,695,941 (GRCm39) N159Y probably damaging Het
Stat1 A C 1: 52,174,780 (GRCm39) K161Q possibly damaging Het
Stc2 T C 11: 31,319,872 (GRCm39) probably benign Het
Strip1 A G 3: 107,522,651 (GRCm39) W681R possibly damaging Het
Sv2a G A 3: 96,101,062 (GRCm39) G687S probably damaging Het
Thnsl2 C T 6: 71,116,739 (GRCm39) V138I probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tnfrsf1a T C 6: 125,338,559 (GRCm39) S235P unknown Het
Tpbg T A 9: 85,726,085 (GRCm39) L18* probably null Het
Trabd2b A T 4: 114,467,217 (GRCm39) Q482L possibly damaging Het
Trim35 T A 14: 66,534,895 (GRCm39) F126Y probably damaging Het
Ttn A T 2: 76,658,288 (GRCm39) V12364D unknown Het
Ubac2 A G 14: 122,211,128 (GRCm39) Y166C probably damaging Het
Unc13b T A 4: 43,258,519 (GRCm39) V1320D probably damaging Het
Usp34 T A 11: 23,410,571 (GRCm39) Y2693N Het
Utp20 A T 10: 88,608,321 (GRCm39) M1572K probably benign Het
Vmn1r7 C T 6: 57,001,452 (GRCm39) M269I probably benign Het
Vmn2r3 C T 3: 64,167,364 (GRCm39) G589D probably benign Het
Vrtn A T 12: 84,695,636 (GRCm39) M129L probably damaging Het
Zfp273 A T 13: 67,973,183 (GRCm39) T104S possibly damaging Het
Zfp384 T A 6: 125,010,275 (GRCm39) N390K probably damaging Het
Znfx1 A G 2: 166,884,110 (GRCm39) M933T probably benign 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
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
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'- TTGAACTTTGCAGCTAGTTTGC -3'
(R):5'- AGGTGTACCTCTCAAGTGGG -3'

Sequencing Primer
(F):5'- ACTTTGCAGCTAGTTTGCTAATTTC -3'
(R):5'- TCAAGTGGGTCCGATTCAC -3'
Posted On 2019-06-26