Incidental Mutation 'IGL01731:Stam2'
ID105474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stam2
Ensembl Gene ENSMUSG00000055371
Gene Namesignal transducing adaptor molecule (SH3 domain and ITAM motif) 2
SynonymsHbp, 1200004O12Rik, 5730456G07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01731
Quality Score
Status
Chromosome2
Chromosomal Location52691664-52742281 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52708150 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2014-01-21