Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Stam2'

675298

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

068737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52582213-52632212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52604984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 184 (Q184K)

Ref Sequence

ENSEMBL: ENSMUSP00000099820 (fasta)

Gene Model

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

AlphaFold

O88811

Predicted Effect

probably damaging
Transcript: ENSMUST00000102759
AA Change: Q184K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099820
Gene: ENSMUSG00000055371
AA Change: Q184K

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

possibly damaging
Transcript: ENSMUST00000127316
AA Change: Q151K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121898
Gene: ENSMUSG00000055371
AA Change: Q151K

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

probably benign
Transcript: ENSMUST00000155516

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,618,349 (GRCm39)	R214H	probably benign	Het
Abca4	A	G	3: 121,906,096 (GRCm39)	S822G	probably benign	Het
Adgrv1	T	A	13: 81,707,621 (GRCm39)	I1262F	probably benign	Het
Agbl2	A	G	2: 90,632,088 (GRCm39)	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947 (GRCm39)	T134S	possibly damaging	Het
Cacna1a	C	T	8: 85,286,070 (GRCm39)	A905V	probably benign	Het
Cacna1b	C	T	2: 24,569,530 (GRCm39)	R798H	probably benign	Het
Cpne8	G	T	15: 90,486,044 (GRCm39)	Q140K	probably benign	Het
Crocc2	A	T	1: 93,120,847 (GRCm39)	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,462,184 (GRCm39)	I366F	probably damaging	Het
Dchs1	A	T	7: 105,410,064 (GRCm39)	D1769E	probably damaging	Het
Def6	A	T	17: 28,435,972 (GRCm39)	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,462,422 (GRCm39)	T3723M	probably damaging	Het
Ecd	T	A	14: 20,387,140 (GRCm39)	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,079,760 (GRCm39)	M451R	probably damaging	Het
Eea1	A	G	10: 95,831,506 (GRCm39)	D199G	probably benign	Het
Efna5	A	T	17: 62,914,374 (GRCm39)	I217N	unknown	Het
F13a1	A	T	13: 37,100,859 (GRCm39)	D428E	probably damaging	Het
Fads1	T	G	19: 10,170,276 (GRCm39)	I272S	probably benign	Het
Fam149a	C	T	8: 45,834,611 (GRCm39)	A63T		Het
Fam83a	A	T	15: 57,872,977 (GRCm39)	N269Y	probably damaging	Het
Fasn	G	A	11: 120,708,979 (GRCm39)	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,156,637 (GRCm39)	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803 (GRCm39)	W329R	probably damaging	Het
Fgf12	A	T	16: 28,008,233 (GRCm39)	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,269,359 (GRCm39)	Y984*	probably null	Het
Galm	A	G	17: 80,490,661 (GRCm39)	T273A	possibly damaging	Het
Gm43302	A	G	5: 105,438,739 (GRCm39)	S50P	probably damaging	Het
Gm45861	C	T	8: 28,010,788 (GRCm39)	S561L	unknown	Het
Gnao1	A	G	8: 94,538,045 (GRCm39)	I28V	probably benign	Het
Golga4	A	G	9: 118,385,779 (GRCm39)	N967S	probably damaging	Het
Gpr155	A	T	2: 73,203,993 (GRCm39)	F274I	probably benign	Het
Grm1	A	C	10: 10,595,092 (GRCm39)	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,443,120 (GRCm39)		probably null	Het
Hsf4	G	T	8: 105,996,628 (GRCm39)	D18Y	probably null	Het
Htt	T	A	5: 35,060,675 (GRCm39)	D2774E	probably benign	Het
Iars2	A	G	1: 185,028,621 (GRCm39)	I679T	probably benign	Het
Irf4	T	C	13: 30,945,414 (GRCm39)	F387L	probably damaging	Het
Itgb5	A	G	16: 33,720,962 (GRCm39)	Y342C	probably damaging	Het
Kcnmb4	A	G	10: 116,282,299 (GRCm39)	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,525,999 (GRCm39)	H271L	probably benign	Het
Lmtk2	C	A	5: 144,113,079 (GRCm39)	D1266E	probably damaging	Het
Lrrtm1	C	A	6: 77,221,807 (GRCm39)	N421K	possibly damaging	Het
Ly9	G	A	1: 171,432,587 (GRCm39)	T142I	probably benign	Het
Manba	A	G	3: 135,223,764 (GRCm39)	Y217C	probably damaging	Het
Mapkbp1	T	C	2: 119,845,109 (GRCm39)	L330P	probably damaging	Het
Marchf2	A	T	17: 33,915,165 (GRCm39)	V143E	probably benign	Het
Mmel1	A	T	4: 154,969,478 (GRCm39)	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,583 (GRCm39)	I32N	probably benign	Het
Mroh2b	C	T	15: 4,960,510 (GRCm39)	Q748*	probably null	Het
Mrpl34	T	G	8: 71,918,024 (GRCm39)	W66G	probably damaging	Het
Muc21	T	C	17: 35,931,865 (GRCm39)	T774A	unknown	Het
Nde1	T	A	16: 14,001,446 (GRCm39)	S165T		Het
Nek10	T	G	14: 14,937,610 (GRCm38)	I776M	probably damaging	Het
Nell2	A	G	15: 95,281,552 (GRCm39)	S385P	probably damaging	Het
Nsf	A	T	11: 103,821,568 (GRCm39)	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320 (GRCm39)	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or14j8	A	T	17: 38,263,091 (GRCm39)	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,776 (GRCm39)	I485V	probably benign	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Pramel24	A	T	4: 143,453,303 (GRCm39)	N137I	probably benign	Het
Prdm5	G	A	6: 65,860,569 (GRCm39)	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,578,320 (GRCm39)	C228S	probably damaging	Het
Ptgfrn	C	T	3: 100,963,927 (GRCm39)	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,184,139 (GRCm39)	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,567,506 (GRCm39)	G400D	probably damaging	Het
Rgs11	A	T	17: 26,423,484 (GRCm39)	I134F	probably damaging	Het
Rnf150	T	A	8: 83,762,715 (GRCm39)	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,858 (GRCm39)		probably benign	Het
Scai	T	C	2: 38,996,978 (GRCm39)	Q272R	probably benign	Het
Sec62	C	T	3: 30,847,506 (GRCm39)	R4C	possibly damaging	Het
Sgo2b	C	A	8: 64,393,091 (GRCm39)	L115F	probably null	Het
Slc44a3	G	A	3: 121,307,456 (GRCm39)	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,457,966 (GRCm39)	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,857,624 (GRCm39)	A569D	probably damaging	Het
Tada2b	A	T	5: 36,641,166 (GRCm39)	L79Q	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tecta	A	T	9: 42,284,597 (GRCm39)	D829E	probably benign	Het
Tepsin	A	G	11: 119,982,654 (GRCm39)	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,334,688 (GRCm39)	M109I	possibly damaging	Het
Trim42	A	T	9: 97,245,275 (GRCm39)	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625 (GRCm39)	N65T	probably benign	Het
Tspear	G	T	10: 77,665,471 (GRCm39)	E86*	probably null	Het
Ubr1	A	T	2: 120,734,523 (GRCm39)	S1126T	probably damaging	Het
Usp50	C	A	2: 126,622,477 (GRCm39)	D28Y	probably damaging	Het
Utp6	T	A	11: 79,842,455 (GRCm39)	I225F	probably benign	Het
Utrn	T	C	10: 12,543,351 (GRCm39)	T1766A	probably benign	Het
Vcl	T	A	14: 21,045,160 (GRCm39)	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,061,663 (GRCm39)	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,455,484 (GRCm39)	S1159R	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
R1699:Stam2	UTSW	2	52,593,187 (GRCm39)	missense	possibly damaging	0.55
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
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'- AAAAGCATGCGTACTCCTTATCC -3'
(R):5'- ACCCTGTCTCGGAACACAAG -3'

Sequencing Primer
(F):5'- TGTATCTTCAGACGATGACACACAG -3'
(R):5'- GGAAACACATGCTTGACTTATCC -3'

Posted On

2021-07-15