Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Sting1'

595525

Institutional Source

Beutler Lab

Gene Symbol

Sting1

Ensembl Gene

ENSMUSG00000024349

Gene Name

stimulator of interferon response cGAMP interactor 1

Synonyms

Tmem173, MPYS, Sting, 2610307O08Rik, ERIS

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35866732-35873607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35868318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 261 (A261T)

Ref Sequence

ENSEMBL: ENSMUSP00000111393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097617] [ENSMUST00000115728]

AlphaFold

Q3TBT3

PDB Structure

Immune activator bound to receptor [X-RAY DIFFRACTION]
mSTING/c-di-GMP [X-RAY DIFFRACTION]
mSTING [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with c[G(2',5')pA(3',5')p] [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with c[G(3',5')pA(3',5')p] [X-RAY DIFFRACTION]
Crystal structure of mSting in complex with DMXAA [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000097617

SMART Domains

Protein: ENSMUSP00000095222
Gene: ENSMUSG00000073598

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115728
AA Change: A261T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111393
Gene: ENSMUSG00000024349
AA Change: A261T

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
Pfam:TMEM173	44	336	4.7e-125	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection and abnormal innate immunity. Mice homozygous for an ENU-induced allele exhibit altered response to bacterial and viral infection. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Chemically induced(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 44,104,208 (GRCm39)	N479T	probably damaging	Het
Add3	C	G	19: 53,227,892 (GRCm39)	L526V	probably damaging	Het
Alas1	T	C	9: 106,124,150 (GRCm39)	T3A	probably benign	Het
Arap3	C	T	18: 38,122,520 (GRCm39)	D579N	probably damaging	Het
Armc6	C	A	8: 70,675,248 (GRCm39)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 87,251,813 (GRCm39)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,690,504 (GRCm39)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,639,559 (GRCm39)	D112E	probably benign	Het
Brf1	T	G	12: 112,927,865 (GRCm39)	K438T	probably benign	Het
Cabs1	A	T	5: 88,128,145 (GRCm39)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,429,071 (GRCm39)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,339,230 (GRCm39)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,213,510 (GRCm39)	*120W	probably null	Het
Col17a1	C	A	19: 47,643,629 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,385,621 (GRCm39)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,290,690 (GRCm39)	S337*	probably null	Het
Cx3cl1	T	C	8: 95,506,867 (GRCm39)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,396,389 (GRCm39)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,650,219 (GRCm39)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,620,722 (GRCm39)	*494W	probably null	Het
Exph5	G	A	9: 53,284,475 (GRCm39)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam222b	A	G	11: 78,044,577 (GRCm39)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,420,086 (GRCm39)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,373,656 (GRCm39)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,860,310 (GRCm39)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,116 (GRCm39)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,808,644 (GRCm39)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,407,204 (GRCm39)	N342S	probably benign	Het
Kcnh6	T	C	11: 105,908,401 (GRCm39)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,627,840 (GRCm39)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,519,751 (GRCm39)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm39)	Y306*	probably null	Het
Manba	C	T	3: 135,223,770 (GRCm39)	T219M	probably benign	Het
Mastl	T	C	2: 23,030,807 (GRCm39)		probably null	Het
Med15	T	G	16: 17,473,038 (GRCm39)	M550L	possibly damaging	Het
Men1	G	A	19: 6,387,312 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,571,957 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,822 (GRCm39)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,530,753 (GRCm39)	C229R	probably benign	Het
Ntn4	A	G	10: 93,569,544 (GRCm39)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,151,623 (GRCm39)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,321,727 (GRCm39)	C141*	probably null	Het
Or6b2b	A	T	1: 92,419,029 (GRCm39)	F149L	probably benign	Het
Pakap	C	T	4: 57,709,876 (GRCm39)	P274S	probably damaging	Het
Papss2	A	T	19: 32,611,403 (GRCm39)		probably null	Het
Pcdhgc3	T	C	18: 37,939,932 (GRCm39)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 126,577,069 (GRCm39)	V988I	probably benign	Het
Pom121	C	T	5: 135,407,002 (GRCm39)	G1178S	probably damaging	Het
Prss33	A	G	17: 24,053,203 (GRCm39)	C213R	probably damaging	Het
Scap	G	A	9: 110,207,435 (GRCm39)		probably null	Het
Shfl	T	C	9: 20,784,461 (GRCm39)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,902,550 (GRCm39)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,317,214 (GRCm39)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,723,579 (GRCm39)	A534S	probably benign	Het
Spink5	T	C	18: 44,096,419 (GRCm39)	L16P	probably damaging	Het
Stk4	T	G	2: 163,952,146 (GRCm39)	M1R	probably null	Het
Stub1	A	T	17: 26,050,106 (GRCm39)	Y253*	probably null	Het
Tasor	C	A	14: 27,169,454 (GRCm39)	N338K	probably damaging	Het
Tbce	A	G	13: 14,203,875 (GRCm39)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,379,065 (GRCm39)	R590G	probably benign	Het
Ubr4	C	T	4: 139,186,231 (GRCm39)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,182,939 (GRCm39)	C253*	probably null	Het
Wfdc8	C	A	2: 164,441,906 (GRCm39)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,621,975 (GRCm39)	D441G	probably benign	Het
Zscan4d	G	T	7: 10,899,169 (GRCm39)	P36Q	possibly damaging	Het

Other mutations in Sting1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Sting1	APN	18	35,867,620 (GRCm39)	missense	probably damaging	0.99
R0226:Sting1	UTSW	18	35,872,141 (GRCm39)	missense	probably benign
R0388:Sting1	UTSW	18	35,868,164 (GRCm39)	splice site	probably null
R0924:Sting1	UTSW	18	35,868,154 (GRCm39)	critical splice donor site	probably null
R2102:Sting1	UTSW	18	35,868,290 (GRCm39)	missense	probably damaging	1.00
R4159:Sting1	UTSW	18	35,872,272 (GRCm39)	missense	probably damaging	1.00
R4604:Sting1	UTSW	18	35,871,743 (GRCm39)	missense	probably damaging	0.97
R6209:Sting1	UTSW	18	35,869,155 (GRCm39)	missense	probably damaging	1.00
R6866:Sting1	UTSW	18	35,872,482 (GRCm39)	missense	probably damaging	0.97
R7008:Sting1	UTSW	18	35,868,224 (GRCm39)	missense	probably damaging	1.00
R7083:Sting1	UTSW	18	35,867,703 (GRCm39)	missense	probably damaging	1.00
R7492:Sting1	UTSW	18	35,871,766 (GRCm39)	missense	probably damaging	1.00
R7899:Sting1	UTSW	18	35,867,626 (GRCm39)	missense	probably damaging	1.00
R8424:Sting1	UTSW	18	35,872,223 (GRCm39)	missense	probably benign	0.10
R9084:Sting1	UTSW	18	35,869,155 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGATGCTGCTATTCCTGATTCC -3'
(R):5'- AAGTGTTTAGCCCAGCCCAG -3'

Sequencing Primer
(F):5'- TGCCCTCCAGCTGTATCAG -3'
(R):5'- CAGCCCAGGCCTAAAGTTAG -3'

Posted On

2019-11-12