Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Stam2'

192474

Institutional Source

Beutler Lab

Gene Symbol

Stam2

Ensembl Gene

ENSMUSG00000055371

Gene Name

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

Synonyms

1200004O12Rik, 5730456G07Rik, Hbp

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52582213-52632212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52593187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 368 (A368V)

Ref Sequence

ENSEMBL: ENSMUSP00000099820 (fasta)

Gene Model

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

AlphaFold

O88811

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102759
AA Change: A368V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: A368V

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: A335V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: A335V

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cdt1	T	C	8: 123,296,722 (GRCm39)	Y203H	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	probably benign	Het

Other mutations in Stam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Stam2	APN	2	52,596,418 (GRCm39)	missense	possibly damaging	0.80
IGL00471:Stam2	APN	2	52,610,947 (GRCm39)	missense	probably damaging	1.00
IGL01480:Stam2	APN	2	52,606,451 (GRCm39)	missense	probably benign
IGL01731:Stam2	APN	2	52,598,162 (GRCm39)	missense	probably damaging	0.99
IGL02684:Stam2	APN	2	52,609,947 (GRCm39)	missense	probably damaging	1.00
IGL02893:Stam2	APN	2	52,604,914 (GRCm39)	missense	probably damaging	1.00
IGL02900:Stam2	APN	2	52,598,209 (GRCm39)	missense	probably benign
R0110:Stam2	UTSW	2	52,609,998 (GRCm39)	splice site	probably benign
R0257:Stam2	UTSW	2	52,584,794 (GRCm39)	missense	possibly damaging	0.90
R0539:Stam2	UTSW	2	52,593,268 (GRCm39)	splice site	probably benign
R1432:Stam2	UTSW	2	52,604,821 (GRCm39)	splice site	probably benign
R1822:Stam2	UTSW	2	52,606,539 (GRCm39)	missense	probably damaging	1.00
R1956:Stam2	UTSW	2	52,598,239 (GRCm39)	critical splice acceptor site	probably null
R1984:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1985:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1986:Stam2	UTSW	2	52,599,638 (GRCm39)	missense	possibly damaging	0.71
R1993:Stam2	UTSW	2	52,593,168 (GRCm39)	nonsense	probably null
R2179:Stam2	UTSW	2	52,584,936 (GRCm39)	missense	probably benign	0.00
R2181:Stam2	UTSW	2	52,593,156 (GRCm39)	missense	probably benign	0.00
R4617:Stam2	UTSW	2	52,605,716 (GRCm39)	missense	probably benign	0.00
R4723:Stam2	UTSW	2	52,610,962 (GRCm39)	missense	probably benign	0.10
R5217:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5218:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5219:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5366:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5368:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5420:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5447:Stam2	UTSW	2	52,626,305 (GRCm39)	intron	probably benign
R5490:Stam2	UTSW	2	52,610,929 (GRCm39)	missense	probably damaging	1.00
R5799:Stam2	UTSW	2	52,610,922 (GRCm39)	nonsense	probably null
R5861:Stam2	UTSW	2	52,632,116 (GRCm39)	utr 5 prime	probably benign
R6039:Stam2	UTSW	2	52,599,611 (GRCm39)	missense	probably benign
R6039:Stam2	UTSW	2	52,599,611 (GRCm39)	missense	probably benign
R6490:Stam2	UTSW	2	52,610,954 (GRCm39)	missense	probably benign	0.00
R6552:Stam2	UTSW	2	52,598,239 (GRCm39)	critical splice acceptor site	probably null
R6792:Stam2	UTSW	2	52,597,993 (GRCm39)	missense	probably benign
R7787:Stam2	UTSW	2	52,596,418 (GRCm39)	missense	probably benign	0.01
R8042:Stam2	UTSW	2	52,596,409 (GRCm39)	critical splice donor site	probably null
R8050:Stam2	UTSW	2	52,609,785 (GRCm39)	missense	probably damaging	1.00
R8074:Stam2	UTSW	2	52,596,438 (GRCm39)	missense	probably damaging	0.98
R8245:Stam2	UTSW	2	52,604,931 (GRCm39)	missense	possibly damaging	0.51
R8732:Stam2	UTSW	2	52,590,180 (GRCm39)	missense	probably damaging	0.99
R8856:Stam2	UTSW	2	52,604,984 (GRCm39)	missense	probably damaging	1.00
R9018:Stam2	UTSW	2	52,606,463 (GRCm39)	missense	probably benign
R9267:Stam2	UTSW	2	52,604,903 (GRCm39)	missense	probably damaging	1.00
R9679:Stam2	UTSW	2	52,606,582 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTAGTGAGTCCACGGCTGAACTGC -3'
(R):5'- CTCAGCTCCCTGTGTGAATGAGAAG -3'

Sequencing Primer
(F):5'- gcccccactactctgcttc -3'
(R):5'- TGTGAATGAGAAGAGCCTTCTGAC -3'

Posted On

2014-05-14