Mutagenetix > Incidental Mutations

Incidental Mutation 'R1985:Stam2'

220411

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

039997-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52691664-52742281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52709626 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 257 (T257A)

Ref Sequence

ENSEMBL: ENSMUSP00000099820 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102759
AA Change: T257A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: T257A

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
AA Change: T224A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: T224A

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

Meta Mutation Damage Score

0.2001

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190007I07Rik	T	A	10: 82,620,217	T37S	possibly damaging	Het
AA792892	A	T	5: 94,384,072	I272L	probably benign	Het
Abhd8	C	A	8: 71,463,513		probably benign	Het
Adam5	A	T	8: 24,746,739	D648E	probably benign	Het
Akr1d1	A	G	6: 37,558,401	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,157,364	H3R	possibly damaging	Het
Anpep	A	C	7: 79,840,857		probably null	Het
Apobr	A	G	7: 126,587,731	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,466,836	Y427N	probably benign	Het
Camkk2	A	C	5: 122,764,127	S40A	possibly damaging	Het
Camp	T	C	9: 109,848,429	N112S	probably benign	Het
Cbx7	A	G	15: 79,918,390	S229P	probably damaging	Het
Cnot2	T	C	10: 116,527,876	N41S	probably damaging	Het
Dchs1	A	G	7: 105,772,398	F272L	possibly damaging	Het
Dct	T	C	14: 118,036,542	K318E	probably benign	Het
Dhrs11	A	C	11: 84,828,807	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,503,934	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,590,892	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Fam71b	T	C	11: 46,407,866	*666Q	probably null	Het
Flnc	A	G	6: 29,444,416		probably benign	Het
Gm7535	A	G	17: 17,911,538		probably benign	Het
Grtp1	A	G	8: 13,179,376	F313L	probably damaging	Het
Haus6	T	C	4: 86,593,609	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,528,960	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,431,118	I237T	probably damaging	Het
Hfm1	A	T	5: 106,898,576	D481E	probably damaging	Het
Hipk3	T	C	2: 104,434,435	I737V	probably benign	Het
Il23r	T	A	6: 67,490,668		probably null	Het
Il24	G	A	1: 130,882,531	T196I	probably benign	Het
Ints3	C	T	3: 90,400,303		probably null	Het
Kcna6	T	C	6: 126,738,510	E472G	probably benign	Het
Kcnj16	C	T	11: 111,025,583	T357M	probably benign	Het
Kdm4b	T	A	17: 56,401,302	V957E	probably damaging	Het
Kif21b	G	A	1: 136,147,546	D166N	probably damaging	Het
Klhl11	G	T	11: 100,463,244	Q584K	probably benign	Het
Krt9	A	T	11: 100,189,991	M345K	probably benign	Het
Lgr5	T	C	10: 115,495,245		probably benign	Het
Lilr4b	A	T	10: 51,481,735	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669	E225G	possibly damaging	Het
Ly9	A	G	1: 171,599,773	S405P	probably damaging	Het
Myh2	A	G	11: 67,180,914	D519G	possibly damaging	Het
Nav3	G	A	10: 109,770,184		probably benign	Het
Nfkb1	G	A	3: 135,615,349	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,198,639		probably benign	Het
Obsl1	A	G	1: 75,505,600	C209R	probably damaging	Het
Olfr1393	T	C	11: 49,280,283	I45T	probably damaging	Het
Olfr314	A	C	11: 58,786,384	D50A	probably damaging	Het
Olfr531	A	T	7: 140,400,800	M82K	possibly damaging	Het
Olfr539	G	A	7: 140,667,821	C171Y	probably damaging	Het
Olfr619	A	T	7: 103,603,672	Y6F	probably benign	Het
Olfr710	A	G	7: 106,944,926	I25T	probably benign	Het
Otud4	G	C	8: 79,640,012	R36P	probably damaging	Het
Pcnt	C	T	10: 76,380,337	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 124,370,592	M491L	probably benign	Het
Pitrm1	A	T	13: 6,558,184	D316V	probably damaging	Het
Plod3	A	G	5: 136,990,853		probably null	Het
Plppr3	A	T	10: 79,867,460	Y63*	probably null	Het
Prickle2	T	C	6: 92,411,452	D323G	probably damaging	Het
Psmd11	A	T	11: 80,445,263	I114F	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rbp3	T	G	14: 33,956,461	S789A	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rfxap	C	A	3: 54,807,326	R117L	probably damaging	Het
Rims2	T	A	15: 39,345,314	M171K	probably damaging	Het
Scin	A	G	12: 40,133,908		probably null	Het
Scn11a	A	G	9: 119,754,678	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,642,228	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,550,106	I237V	probably benign	Het
Spag6	A	G	2: 18,732,119	I218V	probably benign	Het
Tbc1d24	G	A	17: 24,207,964	R318*	probably null	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Trpm3	T	A	19: 22,926,082	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,220,520	D47G	probably benign	Het
Tulp3	A	T	6: 128,326,806	S277T	probably benign	Het
Wdr7	GTT	GT	18: 63,760,583		probably null	Het
Ybx2	A	G	11: 69,936,468		probably null	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp788	T	A	7: 41,650,481	I795N	probably damaging	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
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
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'- ATCTGAAAAGTTCCCAAGGTTCC -3'
(R):5'- TCTTATGTATAGCTGGATGGGAAC -3'

Sequencing Primer
(F):5'- TGGCCAGAAACTCACTGTGTG -3'
(R):5'- TGGGAACAACTGGGAAAGTCC -3'

Posted On

2014-08-25