Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Il6st'

54173

Institutional Source

Beutler Lab

Gene Symbol

Il6st

Ensembl Gene

ENSMUSG00000021756

Gene Name

interleukin 6 signal transducer

Synonyms

5133400A03Rik, CD130, gp130, D13Ertd699e

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

112600604-112643394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112640806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 800 (S800P)

Ref Sequence

ENSEMBL: ENSMUSP00000138915 (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: S861P

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: S861P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183663
AA Change: S861P

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: S861P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: S861P

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: S861P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000184949
AA Change: S800P

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756
AA Change: S800P

Domain	Start	End	E-Value	Type
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

0.0628

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	Het

Other mutations in Il6st

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCCAGGCAACCGTATTTCAAGCAG -3'
(R):5'- TGCCTATCTTCAGGGAGTGAGGAC -3'

Sequencing Primer
(F):5'- AACCGTATTTCAAGCAGAACTG -3'
(R):5'- CTGAAGTTCAGGAGCCAGTC -3'

Posted On

2013-07-11