Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Il6st'

227766

Institutional Source

Beutler Lab

Gene Symbol

Il6st

Ensembl Gene

ENSMUSG00000021756

Gene Name

interleukin 6 signal transducer

Synonyms

D13Ertd699e, gp130, CD130, 5133400A03Rik

MMRRC Submission

040131-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112464070-112510086 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112504175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 828 (H828Q)

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: H828Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000064205
Gene: ENSMUSG00000021756
AA Change: H828Q

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: H828Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138836
Gene: ENSMUSG00000021756
AA Change: H828Q

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: H828Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139227
Gene: ENSMUSG00000021756
AA Change: H828Q

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

probably benign
Transcript: ENSMUST00000184949
AA Change: H767Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138915
Gene: ENSMUSG00000021756
AA Change: H767Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204 (GRCm38)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515 (GRCm38)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375 (GRCm38)	K72*	probably null	Het
Abca6	A	G	11: 110,219,649 (GRCm38)	I558T	probably benign	Het
Acot10	T	C	15: 20,666,626 (GRCm38)	T10A	probably benign	Het
Adgrl4	T	A	3: 151,500,201 (GRCm38)	D233E	probably benign	Het
Adgrv1	A	T	13: 81,557,080 (GRCm38)	F1537Y	probably damaging	Het
Akap2	A	G	4: 57,854,890 (GRCm38)	Y134C	probably benign	Het
Aqp3	T	A	4: 41,098,061 (GRCm38)	I17F	probably benign	Het
Arap1	T	A	7: 101,409,320 (GRCm38)	L1375H	probably damaging	Het
Aspm	T	C	1: 139,457,635 (GRCm38)	V339A	probably benign	Het
Atp13a3	G	A	16: 30,354,276 (GRCm38)	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm38)	Y399H	probably benign	Het
Cept1	A	G	3: 106,512,879 (GRCm38)	V213A	probably damaging	Het
Cit	A	G	5: 115,985,507 (GRCm38)	D1469G	possibly damaging	Het
Cnga2	A	G	X: 72,007,788 (GRCm38)	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,321,947 (GRCm38)	I54V	probably benign	Het
Dhx8	C	A	11: 101,738,409 (GRCm38)	D261E	probably benign	Het
Dnah2	A	T	11: 69,458,185 (GRCm38)	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,321 (GRCm38)	Q3484R	probably benign	Het
Drd1	T	C	13: 54,053,553 (GRCm38)	Y207C	probably damaging	Het
Dtl	C	T	1: 191,558,110 (GRCm38)	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,640,882 (GRCm38)	Y2636H	probably damaging	Het
Endog	C	A	2: 30,172,036 (GRCm38)	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954 (GRCm38)	V14E	probably damaging	Het
Ercc4	C	A	16: 13,147,934 (GRCm38)	T810K	probably damaging	Het
Fam43b	T	A	4: 138,395,988 (GRCm38)	N7I	possibly damaging	Het
Fgd1	T	C	X: 151,086,217 (GRCm38)		probably null	Het
Filip1	G	T	9: 79,819,330 (GRCm38)	T669N	probably damaging	Het
Fndc1	A	G	17: 7,778,665 (GRCm38)		probably benign	Het
Foxk1	C	A	5: 142,435,188 (GRCm38)	S189*	probably null	Het
Gatm	T	C	2: 122,600,536 (GRCm38)	N274S	probably damaging	Het
Gdf9	A	G	11: 53,437,507 (GRCm38)	Y430C	probably damaging	Het
Gga1	C	T	15: 78,888,448 (GRCm38)	P260S	probably damaging	Het
Gm11595	A	T	11: 99,772,501 (GRCm38)	C118S	unknown	Het
Gm382	G	T	X: 127,062,651 (GRCm38)	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,172,014 (GRCm38)	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,695,706 (GRCm38)	D421G	probably damaging	Het
Hus1	A	G	11: 9,006,011 (GRCm38)	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,562,873 (GRCm38)	Y289*	probably null	Het
Impg2	T	A	16: 56,218,379 (GRCm38)	Y127N	probably damaging	Het
Irf3	T	A	7: 45,001,744 (GRCm38)	W345R	probably damaging	Het
Kif1b	G	A	4: 149,187,640 (GRCm38)	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,101,753 (GRCm38)	T342A	probably benign	Het
Kndc1	G	T	7: 139,930,112 (GRCm38)	R1289L	probably damaging	Het
Knl1	A	T	2: 119,071,819 (GRCm38)	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,313,868 (GRCm38)	D499E	unknown	Het
Ldhd	T	A	8: 111,627,048 (GRCm38)	M478L	probably benign	Het
Loxl4	C	G	19: 42,603,963 (GRCm38)	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,214,857 (GRCm38)	T678I	probably benign	Het
Macf1	T	A	4: 123,492,774 (GRCm38)	I1017F	probably benign	Het
Madcam1	A	G	10: 79,665,572 (GRCm38)	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,569,258 (GRCm38)	D195G	probably damaging	Het
Mctp1	A	G	13: 76,824,822 (GRCm38)	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,201,230 (GRCm38)	M2072V	probably benign	Het
Nck1	A	G	9: 100,497,547 (GRCm38)		probably null	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm38)	D55Y	probably damaging	Het
Nek11	A	T	9: 105,300,361 (GRCm38)	D230E	probably benign	Het
Nit2	T	C	16: 57,161,196 (GRCm38)	K67E	possibly damaging	Het
Olfr2	T	C	7: 107,001,248 (GRCm38)	D204G	probably damaging	Het
Olfr290	T	C	7: 84,916,493 (GRCm38)	F238S	probably damaging	Het
Olfr527	C	T	7: 140,336,429 (GRCm38)	T189M	probably damaging	Het
Olfr802	A	T	10: 129,682,532 (GRCm38)	V69E	possibly damaging	Het
Pccb	G	C	9: 100,985,831 (GRCm38)	D347E	probably damaging	Het
Plcl1	T	A	1: 55,697,838 (GRCm38)	F779L	probably damaging	Het
Prune2	C	A	19: 17,122,422 (GRCm38)	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,705,318 (GRCm38)	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,738,957 (GRCm38)	D90E	probably benign	Het
Rapgef4	T	A	2: 72,226,553 (GRCm38)	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,697,986 (GRCm38)	I720K	probably damaging	Het
Scn9a	T	A	2: 66,526,654 (GRCm38)	N1101I	probably damaging	Het
Siglec1	A	T	2: 131,080,497 (GRCm38)	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,203,970 (GRCm38)	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,384,109 (GRCm38)	T284S	probably damaging	Het
Slc8a2	T	A	7: 16,140,492 (GRCm38)		probably null	Het
Snx29	T	A	16: 11,400,971 (GRCm38)	S224T	probably damaging	Het
Stox1	T	C	10: 62,664,535 (GRCm38)	T749A	probably benign	Het
Tg	A	G	15: 66,694,894 (GRCm38)	I1264V	probably benign	Het
Tmem110	T	C	14: 30,866,624 (GRCm38)	Y103H	probably damaging	Het
Top2a	A	C	11: 99,009,807 (GRCm38)	V609G	probably damaging	Het
Trmt44	G	A	5: 35,574,832 (GRCm38)	P72S	probably benign	Het
Ttll3	G	C	6: 113,412,934 (GRCm38)	S760T	probably benign	Het
Ttn	G	A	2: 76,833,897 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,748,678 (GRCm38)	D23957G	probably damaging	Het
Ubxn1	T	G	19: 8,872,070 (GRCm38)	V59G	probably benign	Het
Ubxn4	T	C	1: 128,244,510 (GRCm38)	S14P	probably benign	Het
Uso1	T	A	5: 92,195,370 (GRCm38)	M771K	probably benign	Het
Utp20	A	G	10: 88,814,055 (GRCm38)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612 (GRCm38)	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,308,330 (GRCm38)		probably null	Het
Vps36	G	T	8: 22,218,289 (GRCm38)		probably null	Het
Wnt3	A	G	11: 103,812,648 (GRCm38)	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,436,551 (GRCm38)	Q158K	probably benign	Het
Zfp648	T	C	1: 154,204,607 (GRCm38)	S171P	probably benign	Het

Other mutations in Il6st

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Il6st	APN	13	112,481,433 (GRCm38)	splice site	probably null
IGL00571:Il6st	APN	13	112,487,860 (GRCm38)	missense	probably damaging	1.00
IGL01151:Il6st	APN	13	112,493,651 (GRCm38)	missense	probably benign	0.00
IGL01336:Il6st	APN	13	112,480,239 (GRCm38)	missense	possibly damaging	0.71
IGL01501:Il6st	APN	13	112,480,059 (GRCm38)	missense	probably benign	0.22
IGL01512:Il6st	APN	13	112,504,366 (GRCm38)	missense	probably benign	0.36
IGL01657:Il6st	APN	13	112,481,543 (GRCm38)	missense	probably damaging	1.00
IGL01863:Il6st	APN	13	112,504,210 (GRCm38)	missense	possibly damaging	0.88
IGL01916:Il6st	APN	13	112,480,072 (GRCm38)	missense	possibly damaging	0.90
IGL01978:Il6st	APN	13	112,497,357 (GRCm38)	missense	possibly damaging	0.51
IGL02089:Il6st	APN	13	112,495,240 (GRCm38)	missense	probably benign	0.12
IGL02752:Il6st	APN	13	112,480,195 (GRCm38)	missense	probably damaging	0.98
IGL02988:Il6st	UTSW	13	112,498,886 (GRCm38)	missense	probably damaging	1.00
R0019:Il6st	UTSW	13	112,501,148 (GRCm38)	missense	possibly damaging	0.94
R0550:Il6st	UTSW	13	112,475,114 (GRCm38)	splice site	probably null
R0606:Il6st	UTSW	13	112,504,272 (GRCm38)	missense	possibly damaging	0.78
R1126:Il6st	UTSW	13	112,503,732 (GRCm38)	missense	probably damaging	1.00
R1452:Il6st	UTSW	13	112,481,464 (GRCm38)	missense	possibly damaging	0.79
R1581:Il6st	UTSW	13	112,481,541 (GRCm38)	missense	probably damaging	0.99
R1632:Il6st	UTSW	13	112,504,332 (GRCm38)	missense	possibly damaging	0.86
R1881:Il6st	UTSW	13	112,504,413 (GRCm38)	missense	probably damaging	1.00
R2013:Il6st	UTSW	13	112,498,889 (GRCm38)	missense	probably null	0.94
R2043:Il6st	UTSW	13	112,480,219 (GRCm38)	missense	probably benign	0.00
R2137:Il6st	UTSW	13	112,502,858 (GRCm38)	missense	possibly damaging	0.92
R3433:Il6st	UTSW	13	112,503,831 (GRCm38)	missense	probably damaging	1.00
R3696:Il6st	UTSW	13	112,504,382 (GRCm38)	missense	probably benign	0.13
R3697:Il6st	UTSW	13	112,504,382 (GRCm38)	missense	probably benign	0.13
R3698:Il6st	UTSW	13	112,504,382 (GRCm38)	missense	probably benign	0.13
R4172:Il6st	UTSW	13	112,495,327 (GRCm38)	missense	probably benign	0.25
R4543:Il6st	UTSW	13	112,481,459 (GRCm38)	missense	probably damaging	1.00
R4641:Il6st	UTSW	13	112,488,530 (GRCm38)	missense	probably damaging	1.00
R4838:Il6st	UTSW	13	112,490,510 (GRCm38)	nonsense	probably null
R4899:Il6st	UTSW	13	112,501,161 (GRCm38)	missense	probably damaging	1.00
R4922:Il6st	UTSW	13	112,502,865 (GRCm38)	missense	probably damaging	0.98
R5088:Il6st	UTSW	13	112,490,555 (GRCm38)	missense	probably damaging	1.00
R5104:Il6st	UTSW	13	112,488,648 (GRCm38)	missense	probably benign	0.02
R5853:Il6st	UTSW	13	112,481,537 (GRCm38)	missense	probably damaging	1.00
R6602:Il6st	UTSW	13	112,504,413 (GRCm38)	missense	probably damaging	1.00
R7082:Il6st	UTSW	13	112,504,032 (GRCm38)	missense	probably damaging	1.00
R7101:Il6st	UTSW	13	112,495,373 (GRCm38)	critical splice donor site	probably null
R7192:Il6st	UTSW	13	112,495,207 (GRCm38)	missense	probably benign	0.00
R7273:Il6st	UTSW	13	112,495,298 (GRCm38)	missense	probably benign	0.37
R7330:Il6st	UTSW	13	112,493,651 (GRCm38)	missense	probably benign	0.00
R7427:Il6st	UTSW	13	112,488,560 (GRCm38)	missense	probably benign	0.01
R7770:Il6st	UTSW	13	112,502,804 (GRCm38)	missense	probably damaging	1.00
R8086:Il6st	UTSW	13	112,494,560 (GRCm38)	splice site	probably null
R8307:Il6st	UTSW	13	112,487,747 (GRCm38)	missense	probably benign	0.16
R8831:Il6st	UTSW	13	112,504,380 (GRCm38)	missense	probably damaging	1.00
R9041:Il6st	UTSW	13	112,475,097 (GRCm38)	missense	probably benign	0.00
R9189:Il6st	UTSW	13	112,498,806 (GRCm38)	missense	probably damaging	1.00
R9316:Il6st	UTSW	13	112,502,815 (GRCm38)	missense	possibly damaging	0.95
R9409:Il6st	UTSW	13	112,504,338 (GRCm38)	missense	probably benign	0.00
R9763:Il6st	UTSW	13	112,490,517 (GRCm38)	missense	probably damaging	1.00
U24488:Il6st	UTSW	13	112,494,634 (GRCm38)	missense	possibly damaging	0.90
Z1176:Il6st	UTSW	13	112,493,618 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAAGTGTTCTCAAGGTCCG -3'
(R):5'- AGTCTGTGGCAAGTAACTTTTG -3'

Sequencing Primer
(F):5'- AAGTGTTCTCAAGGTCCGAGTCC -3'
(R):5'- AATTGTGGTCTCCATTCCAACAG -3'

Posted On

2014-09-17