Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Stxbp2'

362485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp2

Ensembl Gene

ENSMUSG00000004626

Gene Name

syntaxin binding protein 2

Synonyms

muSec1, C79054, Sxtp2, Munc18b, Munc-18b, Munc-18-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

3680955-3693644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3691971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 538 (I538F)

Ref Sequence

ENSEMBL: ENSMUSP00000125405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160708]

AlphaFold

Q64324

Predicted Effect

unknown
Transcript: ENSMUST00000004745
AA Change: I538F

SMART Domains

Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626
AA Change: I538F

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	580	6.8e-113	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159370
AA Change: I69F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160435

Predicted Effect

probably benign
Transcript: ENSMUST00000160708
AA Change: I538F

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626
AA Change: I538F

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	579	4.9e-112	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162832

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. [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
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	Het

Other mutations in Stxbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Stxbp2	APN	8	3,686,354 (GRCm39)	critical splice acceptor site	probably null
IGL00466:Stxbp2	APN	8	3,684,065 (GRCm39)	missense	probably benign	0.29
IGL02315:Stxbp2	APN	8	3,685,607 (GRCm39)	unclassified	probably benign
IGL02508:Stxbp2	APN	8	3,682,531 (GRCm39)	missense	probably damaging	1.00
IGL02811:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02833:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02868:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02896:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02926:Stxbp2	APN	8	3,685,629 (GRCm39)	missense	probably benign	0.31
IGL02927:Stxbp2	APN	8	3,692,685 (GRCm39)	missense	possibly damaging	0.95
IGL02928:Stxbp2	APN	8	3,691,736 (GRCm39)	missense	probably damaging	0.99
IGL02943:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02945:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02948:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02951:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02972:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02976:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02977:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02983:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02993:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03008:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03009:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03038:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03051:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03061:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03072:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03110:Stxbp2	APN	8	3,683,342 (GRCm39)	missense	probably damaging	1.00
IGL02988:Stxbp2	UTSW	8	3,683,267 (GRCm39)	intron	probably benign
R0463:Stxbp2	UTSW	8	3,682,559 (GRCm39)	missense	probably damaging	1.00
R0608:Stxbp2	UTSW	8	3,682,559 (GRCm39)	missense	probably damaging	1.00
R0755:Stxbp2	UTSW	8	3,692,019 (GRCm39)	missense	probably benign	0.01
R1328:Stxbp2	UTSW	8	3,692,657 (GRCm39)	missense	possibly damaging	0.56
R1771:Stxbp2	UTSW	8	3,684,064 (GRCm39)	missense	probably benign	0.01
R1962:Stxbp2	UTSW	8	3,692,672 (GRCm39)	missense	probably benign	0.00
R2195:Stxbp2	UTSW	8	3,684,615 (GRCm39)	splice site	probably null
R2319:Stxbp2	UTSW	8	3,683,834 (GRCm39)	missense	possibly damaging	0.95
R3614:Stxbp2	UTSW	8	3,681,196 (GRCm39)	missense	possibly damaging	0.94
R3870:Stxbp2	UTSW	8	3,684,079 (GRCm39)	missense	probably damaging	1.00
R3876:Stxbp2	UTSW	8	3,683,369 (GRCm39)	critical splice donor site	probably null
R4703:Stxbp2	UTSW	8	3,682,521 (GRCm39)	missense	probably damaging	1.00
R6533:Stxbp2	UTSW	8	3,692,683 (GRCm39)	missense	probably benign	0.01
R6623:Stxbp2	UTSW	8	3,682,561 (GRCm39)	missense	probably damaging	1.00
R6665:Stxbp2	UTSW	8	3,691,998 (GRCm39)	missense	probably benign	0.41
R6798:Stxbp2	UTSW	8	3,691,180 (GRCm39)	missense	probably benign
R7152:Stxbp2	UTSW	8	3,682,583 (GRCm39)	missense	probably benign	0.33
R7326:Stxbp2	UTSW	8	3,691,151 (GRCm39)	missense
R8237:Stxbp2	UTSW	8	3,685,695 (GRCm39)	missense
R8268:Stxbp2	UTSW	8	3,682,234 (GRCm39)	missense
R8709:Stxbp2	UTSW	8	3,683,914 (GRCm39)	missense	possibly damaging	0.50
R8811:Stxbp2	UTSW	8	3,689,541 (GRCm39)	missense
R9018:Stxbp2	UTSW	8	3,692,627 (GRCm39)	intron	probably benign
R9043:Stxbp2	UTSW	8	3,684,478 (GRCm39)	missense
R9048:Stxbp2	UTSW	8	3,687,218 (GRCm39)	missense
R9212:Stxbp2	UTSW	8	3,686,220 (GRCm39)	missense
R9421:Stxbp2	UTSW	8	3,682,264 (GRCm39)	missense
R9643:Stxbp2	UTSW	8	3,686,392 (GRCm39)	missense
Z1177:Stxbp2	UTSW	8	3,691,123 (GRCm39)	missense	probably benign

Posted On

2015-12-18