Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01731:Stam2'

105474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stam2

Ensembl Gene

ENSMUSG00000055371

Gene Name

signal transducing adaptor molecule (SH3 domain and ITAM motif) 2

Synonyms

Hbp, 1200004O12Rik, 5730456G07Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

52691664-52742281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52708150 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 259 (I259T)

Ref Sequence

ENSEMBL: ENSMUSP00000121898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000155516]

PDB Structure

Crystal Structure of STAM2 SH3 domain in complex with a UBPY-derived peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102759
AA Change: I292T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: I292T

Domain	Start	End	E-Value	Type
VHS	9	140	6.36e-57	SMART
UIM	165	184	3.24e-3	SMART
SH3	205	260	5.69e-21	SMART
Pfam:GAT	294	367	2.3e-8	PFAM
low complexity region	502	515	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127316
AA Change: I259T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: I259T

Domain	Start	End	E-Value	Type
Pfam:VHS	4	70	8.5e-20	PFAM
UIM	132	151	3.24e-3	SMART
SH3	172	227	5.69e-21	SMART
PDB:3F1I\|C	258	334	4e-29	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150582

Predicted Effect

probably benign
Transcript: ENSMUST00000155516

Coding Region Coverage

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 closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal lymphocyte responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,785,347		probably benign	Het
Abca13	T	C	11: 9,249,749		probably benign	Het
Abcc6	G	A	7: 46,002,610	P611L	possibly damaging	Het
Acsl6	A	G	11: 54,350,559	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472	F337L	possibly damaging	Het
Alg1	C	T	16: 5,244,519	R422C	probably benign	Het
Ankrd23	A	G	1: 36,534,066	L75S	probably damaging	Het
Arid5b	T	C	10: 68,097,609	H578R	probably damaging	Het
Atp10a	G	T	7: 58,797,562	W684L	probably benign	Het
Bzw2	T	C	12: 36,107,648		probably null	Het
C2cd2	A	T	16: 97,870,172	I509K	probably damaging	Het
Card11	T	C	5: 140,882,302	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,267,320	S278P	possibly damaging	Het
Chd8	T	C	14: 52,212,654	I208V	probably benign	Het
Cstf2t	T	C	19: 31,084,338	S425P	probably benign	Het
Cxcl1	A	G	5: 90,891,577	T60A	probably benign	Het
Diaph1	G	T	18: 37,853,709		probably benign	Het
Exoc3l	T	G	8: 105,292,955	K394T	probably benign	Het
Fabp4	T	C	3: 10,205,233		probably benign	Het
Fam234b	T	A	6: 135,211,905	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,802,810	D204Y	possibly damaging	Het
Hephl1	A	T	9: 15,069,770	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,144,817	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,725,669	D226E	probably benign	Het
Lipo4	T	A	19: 33,512,613	Q163L	probably damaging	Het
Med13l	T	C	5: 118,742,407	I1188T	probably benign	Het
Mki67	T	C	7: 135,696,549	E2252G	probably benign	Het
Nepn	G	T	10: 52,400,564	R132L	probably benign	Het
Nlrp9b	T	A	7: 20,023,417	L193*	probably null	Het
Ntn1	A	G	11: 68,385,418	S235P	probably damaging	Het
Nup210l	G	T	3: 90,154,566	R684L	probably damaging	Het
Obp2b	A	G	2: 25,739,281	S154G	possibly damaging	Het
Olfr1129	A	G	2: 87,575,938	T285A	probably benign	Het
Olfr1308	A	G	2: 111,960,635	V146A	probably benign	Het
Olfr491	A	T	7: 108,317,475	I194F	probably benign	Het
Olfr623	T	A	7: 103,660,846	T135S	probably benign	Het
Polr3b	A	T	10: 84,631,840	R95*	probably null	Het
Prelid2	C	T	18: 41,937,649	V40M	probably benign	Het
Ptprb	T	G	10: 116,372,876	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,562,801	V79A	probably benign	Het
Rnf219	T	C	14: 104,479,302	D545G	probably damaging	Het
Tdpoz4	A	T	3: 93,796,882	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,282,758	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,549	*852K	probably null	Het
Wdr78	T	C	4: 103,062,435	I139V	probably benign	Het
Zfp7	C	T	15: 76,888,305	Q69*	probably null	Het
Zfp865	G	T	7: 5,029,876	A287S	probably benign	Het
Zmpste24	T	A	4: 121,097,884	Q39L	probably benign	Het

Other mutations in Stam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Stam2	APN	2	52706406	missense	possibly damaging	0.80
IGL00471:Stam2	APN	2	52720935	missense	probably damaging	1.00
IGL01480:Stam2	APN	2	52716439	missense	probably benign
IGL02684:Stam2	APN	2	52719935	missense	probably damaging	1.00
IGL02893:Stam2	APN	2	52714902	missense	probably damaging	1.00
IGL02900:Stam2	APN	2	52708197	missense	probably benign
R0110:Stam2	UTSW	2	52719986	splice site	probably benign
R0257:Stam2	UTSW	2	52694782	missense	possibly damaging	0.90
R0539:Stam2	UTSW	2	52703256	splice site	probably benign
R1432:Stam2	UTSW	2	52714809	splice site	probably benign
R1699:Stam2	UTSW	2	52703175	missense	possibly damaging	0.55
R1822:Stam2	UTSW	2	52716527	missense	probably damaging	1.00
R1956:Stam2	UTSW	2	52708227	critical splice acceptor site	probably null
R1984:Stam2	UTSW	2	52709626	missense	possibly damaging	0.71
R1985:Stam2	UTSW	2	52709626	missense	possibly damaging	0.71
R1986:Stam2	UTSW	2	52709626	missense	possibly damaging	0.71
R1993:Stam2	UTSW	2	52703156	nonsense	probably null
R2179:Stam2	UTSW	2	52694924	missense	probably benign	0.00
R2181:Stam2	UTSW	2	52703144	missense	probably benign	0.00
R4617:Stam2	UTSW	2	52715704	missense	probably benign	0.00
R4723:Stam2	UTSW	2	52720950	missense	probably benign	0.10
R5217:Stam2	UTSW	2	52736293	intron	probably benign
R5218:Stam2	UTSW	2	52736293	intron	probably benign
R5219:Stam2	UTSW	2	52736293	intron	probably benign
R5366:Stam2	UTSW	2	52736293	intron	probably benign
R5368:Stam2	UTSW	2	52736293	intron	probably benign
R5420:Stam2	UTSW	2	52736293	intron	probably benign
R5447:Stam2	UTSW	2	52736293	intron	probably benign
R5490:Stam2	UTSW	2	52720917	missense	probably damaging	1.00
R5799:Stam2	UTSW	2	52720910	nonsense	probably null
R5861:Stam2	UTSW	2	52742104	utr 5 prime	probably benign
R6039:Stam2	UTSW	2	52709599	missense	probably benign
R6039:Stam2	UTSW	2	52709599	missense	probably benign
R6490:Stam2	UTSW	2	52720942	missense	probably benign	0.00
R6552:Stam2	UTSW	2	52708227	critical splice acceptor site	probably null
R6792:Stam2	UTSW	2	52707981	missense	probably benign
R7787:Stam2	UTSW	2	52706406	missense	probably benign	0.01
R8042:Stam2	UTSW	2	52706397	critical splice donor site	unknown
R8050:Stam2	UTSW	2	52719773	missense	not run
R8074:Stam2	UTSW	2	52706426	missense	not run

Posted On

2014-01-21