Incidental Mutation 'R0058:Stam'
ID 34317
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 038352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R0058 (G1)
Quality Score 149
Status Validated
Chromosome 2
Chromosomal Location 14078910-14153296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14142952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 336 (C336R)
Ref Sequence ENSEMBL: ENSMUSP00000100025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000193636]
AlphaFold P70297
Predicted Effect probably damaging
Transcript: ENSMUST00000028050
AA Change: C336R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: C336R

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 damaging
Transcript: ENSMUST00000102960
AA Change: C336R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: C336R

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 noncoding transcript
Transcript: ENSMUST00000128777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131734
Predicted Effect probably benign
Transcript: ENSMUST00000193636
SMART Domains Protein: ENSMUSP00000141207
Gene: ENSMUSG00000026718

Pfam:VHS 5 44 2e-8 PFAM
Meta Mutation Damage Score 0.5712 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache T G 5: 137,289,104 (GRCm39) V270G probably damaging Het
Acss1 A T 2: 150,470,459 (GRCm39) W394R probably damaging Het
Adgrv1 A G 13: 81,330,791 (GRCm39) V6088A possibly damaging Het
Ankrd36 A G 11: 5,580,691 (GRCm39) probably benign Het
Anxa1 A T 19: 20,361,141 (GRCm39) Y84N probably damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Avpr1b A G 1: 131,527,524 (GRCm39) T16A probably benign Het
Bpifb1 G A 2: 154,048,460 (GRCm39) R165H possibly damaging Het
Cables1 A G 18: 12,056,470 (GRCm39) E316G possibly damaging Het
Cadm1 A T 9: 47,761,629 (GRCm39) I427L probably damaging Het
Ccdc97 T C 7: 25,415,405 (GRCm39) D86G probably benign Het
Cgnl1 C A 9: 71,548,679 (GRCm39) D1081Y probably damaging Het
Cgnl1 T A 9: 71,632,122 (GRCm39) R410W probably damaging Het
Cntnap4 G A 8: 113,512,416 (GRCm39) E593K probably damaging Het
Dazap1 T C 10: 80,097,415 (GRCm39) probably benign Het
Dip2b A G 15: 100,113,121 (GRCm39) E1512G probably benign Het
Dock1 G A 7: 134,710,490 (GRCm39) V1171M possibly damaging Het
Dock5 A T 14: 68,018,485 (GRCm39) F1230Y probably benign Het
Dym G A 18: 75,176,243 (GRCm39) E15K possibly damaging Het
Ednra C A 8: 78,393,951 (GRCm39) probably null Het
Faf1 A G 4: 109,593,821 (GRCm39) Q133R probably benign Het
Fbxw28 A G 9: 109,157,279 (GRCm39) I323T probably benign Het
Fcer2a T C 8: 3,738,111 (GRCm39) probably benign Het
Fmo2 A T 1: 162,713,893 (GRCm39) S204R probably benign Het
Frmd4b A G 6: 97,400,460 (GRCm39) V63A probably damaging Het
Fzd8 G A 18: 9,213,985 (GRCm39) A356T possibly damaging Het
Ghitm A G 14: 36,853,549 (GRCm39) L97P probably damaging Het
Gins4 A G 8: 23,719,526 (GRCm39) probably benign Het
Golga3 T A 5: 110,350,643 (GRCm39) F766Y possibly damaging Het
Hapln1 T C 13: 89,755,997 (GRCm39) I267T probably benign Het
Helz A T 11: 107,563,384 (GRCm39) probably benign Het
Herc2 T C 7: 55,820,231 (GRCm39) V2851A possibly damaging Het
Igkv8-18 G A 6: 70,333,105 (GRCm39) probably benign Het
Igll1 A T 16: 16,681,740 (GRCm39) V5E probably benign Het
Irx3 T C 8: 92,527,168 (GRCm39) T179A possibly damaging Het
Kif16b A G 2: 142,699,225 (GRCm39) probably null Het
Limk1 A T 5: 134,688,725 (GRCm39) W507R probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mtif3 C A 5: 146,893,731 (GRCm39) V159F probably benign Het
Myh6 C T 14: 55,200,861 (GRCm39) R169Q probably damaging Het
Ncoa7 T A 10: 30,523,537 (GRCm39) D887V probably damaging Het
Obox7 C T 7: 14,398,313 (GRCm39) P76S probably benign Het
Or10ak12 A G 4: 118,666,677 (GRCm39) M128T probably benign Het
Or11l3 A T 11: 58,516,494 (GRCm39) I126N probably damaging Het
Pitpnm2 G A 5: 124,262,093 (GRCm39) A862V probably damaging Het
Pkd1 G C 17: 24,783,677 (GRCm39) A162P probably benign Het
Plce1 A G 19: 38,513,628 (GRCm39) D309G possibly damaging Het
Plk4 T C 3: 40,760,307 (GRCm39) V401A probably benign Het
Prdx3 T C 19: 60,862,950 (GRCm39) probably benign Het
Prrc2c C T 1: 162,526,453 (GRCm39) V253I unknown Het
Ranbp2 T A 10: 58,316,353 (GRCm39) S2358T probably damaging Het
Setd2 T A 9: 110,423,494 (GRCm39) V2183E probably damaging Het
Sgsm1 T A 5: 113,432,953 (GRCm39) S232C probably damaging Het
Skint6 A T 4: 112,904,012 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,574,909 (GRCm39) I531T probably benign Het
Slc36a1 C T 11: 55,112,820 (GRCm39) probably benign Het
Sorbs2 C A 8: 46,249,300 (GRCm39) D831E probably damaging Het
Sorbs2 T A 8: 46,238,291 (GRCm39) probably null Het
Sptan1 T C 2: 29,883,708 (GRCm39) probably null Het
Stil G T 4: 114,898,495 (GRCm39) A1042S probably damaging Het
Stxbp5l T A 16: 36,962,736 (GRCm39) D773V possibly damaging Het
Sugct A T 13: 17,847,166 (GRCm39) L39Q probably damaging Het
Tep1 A G 14: 51,071,522 (GRCm39) V2041A possibly damaging Het
Tex15 C T 8: 34,071,530 (GRCm39) probably benign Het
Tlr9 T G 9: 106,102,164 (GRCm39) L485R possibly damaging Het
Tmem207 A G 16: 26,343,579 (GRCm39) probably benign Het
Triml2 T C 8: 43,638,306 (GRCm39) probably benign Het
Trip6 A G 5: 137,309,107 (GRCm39) probably benign Het
Tspear T C 10: 77,705,465 (GRCm39) F288L probably benign Het
Vmn1r179 C T 7: 23,628,592 (GRCm39) T261I possibly damaging Het
Zfp644 A T 5: 106,784,869 (GRCm39) S559R possibly 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
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
R1018:Stam UTSW 2 14,122,185 (GRCm39) splice site probably benign
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
(F):5'- gaggcagaggcaggcag -3'
(R):5'- caccatactcttccttctccc -3'
Posted On 2013-05-09