Incidental Mutation 'IGL03365:Stam'
ID420041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stam
Ensembl Gene ENSMUSG00000026718
Gene Namesignal transducing adaptor molecule (SH3 domain and ITAM motif) 1
SynonymsSTAM1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.294) question?
Stock #IGL03365
Quality Score
Status
Chromosome2
Chromosomal Location14074098-14149634 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 14146390 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 519 (Y519*)
Ref Sequence ENSEMBL: ENSMUSP00000100025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000193636]
Predicted Effect probably benign
Transcript: ENSMUST00000028050
SMART Domains Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718

DomainStartEndE-ValueType
VHS 9 139 1.87e-63 SMART
UIM 171 190 1.6e-2 SMART
SH3 213 268 8.29e-23 SMART
PDB:3F1I|C 301 377 9e-46 PDB
low complexity region 387 404 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102960
AA Change: Y519*
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: Y519*

DomainStartEndE-ValueType
VHS 9 139 1.87e-63 SMART
UIM 171 190 1.6e-2 SMART
SH3 213 268 8.29e-23 SMART
Pfam:GAT 304 377 6.8e-10 PFAM
low complexity region 387 404 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
low complexity region 533 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193636
SMART Domains Protein: ENSMUSP00000141207
Gene: ENSMUSG00000026718

DomainStartEndE-ValueType
Pfam:VHS 5 44 2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Stam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Stam APN 2 14115968 intron probably benign
IGL02964:Stam APN 2 14115968 intron probably benign
R0058:Stam UTSW 2 14138141 missense probably damaging 1.00
R0410:Stam UTSW 2 14138991 missense probably benign 0.04
R0479:Stam UTSW 2 14117495 missense probably damaging 1.00
R1018:Stam UTSW 2 14117374 splice site probably benign
R1554:Stam UTSW 2 14141828 missense probably benign
R1631:Stam UTSW 2 14146248 nonsense probably null
R1897:Stam UTSW 2 14129026 missense probably damaging 1.00
R3735:Stam UTSW 2 14129012 missense probably damaging 1.00
R3973:Stam UTSW 2 14138961 missense probably damaging 1.00
R4610:Stam UTSW 2 14115858 missense probably damaging 1.00
R4914:Stam UTSW 2 14102416 missense probably damaging 1.00
R5079:Stam UTSW 2 14074539 missense probably benign
R5209:Stam UTSW 2 14146347 missense probably benign 0.04
R5574:Stam UTSW 2 14115864 missense probably damaging 1.00
R5636:Stam UTSW 2 14117427 missense probably damaging 1.00
R6968:Stam UTSW 2 14116018 missense probably damaging 1.00
Z1088:Stam UTSW 2 14139090 nonsense probably null
Posted On2016-08-02