Incidental Mutation 'R1018:Stam'
ID 96535
Institutional Source Beutler Lab
Gene Symbol Stam
Ensembl Gene ENSMUSG00000026718
Gene Name signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
Synonyms STAM1
MMRRC Submission 039122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1018 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 14078910-14153296 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 14122185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000138989] [ENSMUST00000193636]
AlphaFold P70297
Predicted Effect probably benign
Transcript: ENSMUST00000028050
SMART Domains Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718

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 benign
Transcript: ENSMUST00000102960
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718

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: ENSMUST00000138989
SMART Domains Protein: ENSMUSP00000121228
Gene: ENSMUSG00000026718

VHS 4 136 1.76e-59 SMART
UIM 168 187 1.6e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156901
Predicted Effect probably benign
Transcript: ENSMUST00000193636
SMART Domains Protein: ENSMUSP00000141207
Gene: ENSMUSG00000026718

Pfam:VHS 5 44 2e-8 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,837,325 (GRCm39) C403F probably damaging Het
Adam20 C T 8: 41,249,146 (GRCm39) Q419* probably null Het
Ankrd36 C T 11: 5,596,876 (GRCm39) probably benign Het
Arl8b T A 6: 108,795,572 (GRCm39) I170K probably damaging Het
Atp5pb A T 3: 105,861,488 (GRCm39) V78E possibly damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cgnl1 A G 9: 71,633,340 (GRCm39) Y4H probably damaging Het
Cnn2 T C 10: 79,829,397 (GRCm39) C176R probably damaging Het
Dst A G 1: 34,233,174 (GRCm39) D3392G probably damaging Het
Eed T C 7: 89,617,019 (GRCm39) probably benign Het
Efl1 T A 7: 82,412,221 (GRCm39) V870E possibly damaging Het
Epx T C 11: 87,760,129 (GRCm39) N495S probably benign Het
Fbxw20 T A 9: 109,050,404 (GRCm39) Y407F probably benign Het
Gbp9 T A 5: 105,228,126 (GRCm39) Q552L probably benign Het
Hspa13 C A 16: 75,558,164 (GRCm39) V134L possibly damaging Het
Il16 T C 7: 83,323,746 (GRCm39) N268S probably damaging Het
Kif14 G A 1: 136,423,579 (GRCm39) probably benign Het
Lrig1 G A 6: 94,599,583 (GRCm39) probably benign Het
Myo7a T A 7: 97,756,212 (GRCm39) D29V probably damaging Het
Nsd2 A G 5: 34,000,585 (GRCm39) K34R probably damaging Het
Or4a15 C A 2: 89,193,523 (GRCm39) L83F possibly damaging Het
P3h1 C A 4: 119,095,104 (GRCm39) T287K probably damaging Het
Pkhd1 A T 1: 20,271,483 (GRCm39) H3023Q possibly damaging Het
Plxna1 A G 6: 89,319,942 (GRCm39) L535P probably damaging Het
Prom1 A T 5: 44,187,056 (GRCm39) S400R probably benign Het
Psap T G 10: 60,136,590 (GRCm39) L523R probably damaging Het
Psme4 C T 11: 30,754,310 (GRCm39) T189I probably damaging Het
Ptpn12 A T 5: 21,234,867 (GRCm39) S39T possibly damaging Het
Qtrt2 T A 16: 43,698,363 (GRCm39) H98L possibly damaging Het
Rad54l2 C A 9: 106,589,589 (GRCm39) C601F probably benign Het
Saxo4 A T 19: 10,456,824 (GRCm39) probably benign Het
Sfswap A G 5: 129,631,640 (GRCm39) K756R possibly damaging Het
Slc24a5 T C 2: 124,910,827 (GRCm39) V86A probably damaging Het
Srrm2 T C 17: 24,041,514 (GRCm39) S2575P probably damaging Het
Tbx6 T A 7: 126,382,364 (GRCm39) probably benign Het
Tmem131 A C 1: 36,833,900 (GRCm39) F1727V probably damaging Het
Tpr T A 1: 150,317,934 (GRCm39) H2147Q possibly damaging Het
Trio T A 15: 27,871,257 (GRCm39) H620L probably damaging Het
Uba5 T C 9: 103,927,102 (GRCm39) T292A probably benign Het
Unc5a T A 13: 55,138,765 (GRCm39) V48E possibly damaging Het
Upf1 G T 8: 70,791,556 (GRCm39) H514Q possibly damaging Het
Usp9y A G Y: 1,341,414 (GRCm39) probably benign Het
Vmn2r6 T A 3: 64,464,261 (GRCm39) D191V probably benign Het
Wapl T C 14: 34,413,863 (GRCm39) Y242H possibly damaging Het
Zfp341 A T 2: 154,487,972 (GRCm39) N812Y probably damaging Het
Zfp358 C A 8: 3,546,843 (GRCm39) S475* probably null Het
Zfp957 C A 14: 79,450,182 (GRCm39) C539F probably damaging Het
Other mutations in Stam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Stam APN 2 14,120,779 (GRCm39) intron probably benign
IGL02964:Stam APN 2 14,120,779 (GRCm39) intron probably benign
IGL03365:Stam APN 2 14,151,201 (GRCm39) nonsense probably null
R0058:Stam UTSW 2 14,142,952 (GRCm39) missense probably damaging 1.00
R0410:Stam UTSW 2 14,143,802 (GRCm39) missense probably benign 0.04
R0479:Stam UTSW 2 14,122,306 (GRCm39) missense probably damaging 1.00
R1554:Stam UTSW 2 14,146,639 (GRCm39) missense probably benign
R1631:Stam UTSW 2 14,151,059 (GRCm39) nonsense probably null
R1897:Stam UTSW 2 14,133,837 (GRCm39) missense probably damaging 1.00
R3735:Stam UTSW 2 14,133,823 (GRCm39) missense probably damaging 1.00
R3973:Stam UTSW 2 14,143,772 (GRCm39) missense probably damaging 1.00
R4610:Stam UTSW 2 14,120,669 (GRCm39) missense probably damaging 1.00
R4914:Stam UTSW 2 14,107,227 (GRCm39) missense probably damaging 1.00
R5079:Stam UTSW 2 14,079,350 (GRCm39) missense probably benign
R5209:Stam UTSW 2 14,151,158 (GRCm39) missense probably benign 0.04
R5574:Stam UTSW 2 14,120,675 (GRCm39) missense probably damaging 1.00
R5636:Stam UTSW 2 14,122,238 (GRCm39) missense probably damaging 1.00
R6968:Stam UTSW 2 14,120,829 (GRCm39) missense probably damaging 1.00
R7384:Stam UTSW 2 14,139,241 (GRCm39) missense probably benign 0.17
R8127:Stam UTSW 2 14,122,284 (GRCm39) missense probably damaging 0.99
R8687:Stam UTSW 2 14,151,096 (GRCm39) utr 3 prime probably benign
R8687:Stam UTSW 2 14,151,091 (GRCm39) utr 3 prime probably benign
R8938:Stam UTSW 2 14,133,984 (GRCm39) critical splice donor site probably null
R9423:Stam UTSW 2 14,146,564 (GRCm39) missense possibly damaging 0.46
R9435:Stam UTSW 2 14,120,801 (GRCm39) missense probably damaging 1.00
R9632:Stam UTSW 2 14,122,204 (GRCm39) missense probably damaging 1.00
Z1088:Stam UTSW 2 14,143,901 (GRCm39) nonsense probably null
Z1176:Stam UTSW 2 14,133,375 (GRCm39) missense possibly damaging 0.95
Z1176:Stam UTSW 2 14,120,824 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-05