Mutagenetix > Incidental Mutations

Incidental Mutation 'R0110:Stam2'

20348

Institutional Source

Beutler Lab

Gene Symbol

Stam2

Ensembl Gene

ENSMUSG00000055371

Gene Name

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

Synonyms

Hbp, 1200004O12Rik, 5730456G07Rik

MMRRC Submission

038396-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0110 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

52691664-52742281 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 52719986 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102759] [ENSMUST00000127316] [ENSMUST00000138290] [ENSMUST00000155516]

Predicted Effect

probably benign
Transcript: ENSMUST00000102759

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371

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 benign
Transcript: ENSMUST00000127316

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371

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

probably benign
Transcript: ENSMUST00000138290

SMART Domains

Protein: ENSMUSP00000114620
Gene: ENSMUSG00000055371

Domain	Start	End	E-Value	Type
Pfam:VHS	1	65	7.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150582

Predicted Effect

probably benign
Transcript: ENSMUST00000155516

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,853,506		probably benign	Het
4933408B17Rik	A	T	18: 34,596,151	D42E	probably damaging	Het
Abcg3	A	G	5: 104,977,616	I67T	probably damaging	Het
Adam10	T	A	9: 70,748,248	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232	R5627*	probably null	Het
AI606181	A	C	19: 41,593,731	K113N	unknown	Het
Alms1	A	T	6: 85,620,369	R1195*	probably null	Het
Ankrd11	T	C	8: 122,892,175	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,542,240	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,127,715	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,275,891	Y438C	probably damaging	Het
Ccdc110	T	A	8: 45,935,157	N50K	probably benign	Het
Cdhr1	T	C	14: 37,080,676	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,827,005	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351	Y676N	probably damaging	Het
Cntln	C	T	4: 85,096,757	T1095I	probably damaging	Het
Cog2	T	C	8: 124,529,058		probably null	Het
Col11a1	A	T	3: 114,105,456		probably benign	Het
Cpe	T	A	8: 64,611,467	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,569,080	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972		probably null	Het
Dnah12	A	G	14: 26,798,899	R1892G	probably damaging	Het
Dock4	A	G	12: 40,621,312		probably benign	Het
Dync1h1	C	A	12: 110,639,944	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,776,781	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763	T22A	probably benign	Het
Fam227b	T	A	2: 126,100,921	S319C	probably damaging	Het
Fam83a	C	A	15: 58,009,926	Q384K	probably benign	Het
Fam83b	G	T	9: 76,492,826	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 94,009,497	P388L	probably benign	Het
Ggn	C	T	7: 29,171,296	P47S	probably damaging	Het
Gli3	T	G	13: 15,724,785	L919R	probably damaging	Het
Gm5134	C	A	10: 75,974,245	T120N	probably benign	Het
Gm5415	T	A	1: 32,545,875	N318I	possibly damaging	Het
Gm8251	C	A	1: 44,059,224	V905F	probably benign	Het
Gmip	C	T	8: 69,815,609		probably benign	Het
Gpr39	C	T	1: 125,677,500	T55M	probably damaging	Het
Grk4	A	G	5: 34,716,213	T208A	probably damaging	Het
Gsdme	C	A	6: 50,246,127		probably benign	Het
Gucy2e	T	C	11: 69,235,576	D326G	probably benign	Het
Hadhb	T	C	5: 30,169,485		probably benign	Het
Hectd4	T	A	5: 121,281,896	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,305,673	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 22,671,635	C412*	probably null	Het
Itpa	A	T	2: 130,679,418		probably benign	Het
Klhl10	A	G	11: 100,456,932	T605A	probably benign	Het
Krt74	T	C	15: 101,763,316		noncoding transcript	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lap3	T	C	5: 45,495,290		probably benign	Het
Lrrc10	T	A	10: 117,045,790	L123Q	probably damaging	Het
Map3k6	T	C	4: 133,243,794	L273P	probably damaging	Het
Mbl1	A	G	14: 41,158,749	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337	D233G	probably damaging	Het
Mdga2	T	C	12: 66,470,926	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619	N3524S	probably benign	Het
Mrc1	T	A	2: 14,238,542		probably benign	Het
Msto1	A	G	3: 88,911,541	L269P	probably benign	Het
Mtcl1	C	T	17: 66,358,114	E1149K	possibly damaging	Het
Naca	C	T	10: 128,044,790	A1897V	probably benign	Het
Ncapg	T	C	5: 45,693,147		probably benign	Het
Neb	A	T	2: 52,290,743		probably benign	Het
Olfr467	T	C	7: 107,814,688	Y35H	probably damaging	Het
Olfr870	T	C	9: 20,171,265	Y102C	probably benign	Het
Olfr944	G	A	9: 39,217,728	V124I	possibly damaging	Het
Parp2	T	A	14: 50,819,673	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,657,831	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,647	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,607,982	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,734,217	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,978,801		probably benign	Het
Proc	G	A	18: 32,125,118	T258I	probably benign	Het
Prom2	T	G	2: 127,531,113	S679R	possibly damaging	Het
Psen2	T	C	1: 180,238,914	T153A	probably damaging	Het
Rem2	T	C	14: 54,476,297		probably benign	Het
Rin2	A	G	2: 145,861,033	K550E	probably benign	Het
Rtn4	T	A	11: 29,733,849		probably benign	Het
Ssh1	A	T	5: 113,946,705	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548		probably null	Het
Syne1	A	G	10: 5,367,600	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Taf6l	G	T	19: 8,778,521	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,847,332	V64A	probably benign	Het
Tnnc1	A	G	14: 31,211,408	D149G	probably damaging	Het
Tpp2	A	G	1: 43,999,693	D1133G	probably damaging	Het
Tpp2	T	A	1: 43,978,504	V756E	probably benign	Het
Traf3ip3	T	A	1: 193,178,231		probably null	Het
Tsen15	A	G	1: 152,371,797	V148A	probably damaging	Het
Ttn	T	A	2: 76,864,328		probably benign	Het
Ube2u	A	G	4: 100,486,673	I90V	probably benign	Het
Unc79	T	A	12: 103,079,070		probably null	Het
Usp47	T	C	7: 112,056,580	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,018,111		probably benign	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp423	A	G	8: 87,782,259	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,919,733	Q318L	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
IGL01731:Stam2	APN	2	52708150	missense	probably damaging	0.99
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
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	probably null
R8050:Stam2	UTSW	2	52719773	missense	probably damaging	1.00
R8074:Stam2	UTSW	2	52706426	missense	probably damaging	0.98
R8245:Stam2	UTSW	2	52714919	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GTTTGCCACACAAGCTCCAAGAAG -3'
(R):5'- AGGCTTTGCTGACAGAAAAGTCCG -3'

Sequencing Primer
(F):5'- GGGTCATCTGACATGTCGTT -3'
(R):5'- GACAGAAAAGTCCGTCTTTCTGG -3'

Posted On

2013-04-11