Incidental Mutation 'R1554:Stam'
ID 170132
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 039593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1554 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 14078910-14153296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14146639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 446 (S446P)
Ref Sequence ENSEMBL: ENSMUSP00000100025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000193636]
AlphaFold P70297
Predicted Effect probably benign
Transcript: ENSMUST00000028050
AA Change: S446P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: S446P

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 benign
Transcript: ENSMUST00000102960
AA Change: S446P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: S446P

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

DomainStartEndE-ValueType
Pfam:VHS 5 44 2e-8 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,886,302 (GRCm39) D70E possibly damaging Het
Adamts7 A T 9: 90,055,703 (GRCm39) D152V probably damaging Het
Api5 T C 2: 94,255,988 (GRCm39) D233G probably benign Het
Btaf1 A G 19: 36,973,998 (GRCm39) D1390G probably benign Het
Cep135 G A 5: 76,782,060 (GRCm39) W893* probably null Het
Cgas A T 9: 78,342,838 (GRCm39) S321R probably damaging Het
Cmtm6 T A 9: 114,575,550 (GRCm39) V153D possibly damaging Het
Dnah11 C T 12: 118,046,234 (GRCm39) V1735I possibly damaging Het
Dnm1l T C 16: 16,159,290 (GRCm39) N104S probably benign Het
Dpyd A T 3: 118,858,695 (GRCm39) probably null Het
Dtx1 T C 5: 120,821,386 (GRCm39) K387R probably damaging Het
Ercc4 A G 16: 12,965,486 (GRCm39) D706G probably damaging Het
Fat2 T C 11: 55,144,490 (GRCm39) N4128S probably benign Het
Gm42669 T A 5: 107,655,653 (GRCm39) C639S possibly damaging Het
Grk3 T A 5: 113,117,135 (GRCm39) I89L possibly damaging Het
Grm8 A T 6: 28,125,852 (GRCm39) D91E probably benign Het
Havcr1 C A 11: 46,643,334 (GRCm39) H85N probably benign Het
Il12rb1 G A 8: 71,266,016 (GRCm39) probably null Het
Kif3a A G 11: 53,489,154 (GRCm39) K117E probably damaging Het
Kitl T A 10: 99,923,300 (GRCm39) F15L probably benign Het
Ktn1 T G 14: 47,932,964 (GRCm39) L706R probably damaging Het
Lipg T C 18: 75,081,118 (GRCm39) Y321C probably damaging Het
Mapk8ip3 T C 17: 25,122,033 (GRCm39) D710G probably benign Het
Mchr1 A G 15: 81,120,021 (GRCm39) N16S probably benign Het
Myadml2 A T 11: 120,538,553 (GRCm39) L94* probably null Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Obscn A G 11: 58,894,474 (GRCm39) I6677T unknown Het
Ogn A C 13: 49,774,520 (GRCm39) D221A probably benign Het
Or8b40 T C 9: 38,027,230 (GRCm39) I46T probably benign Het
Pard3b C A 1: 62,677,053 (GRCm39) Q1195K probably damaging Het
Pcsk4 T C 10: 80,157,785 (GRCm39) E608G probably benign Het
Pdlim1 T C 19: 40,211,516 (GRCm39) D259G probably benign Het
Per1 T C 11: 68,994,453 (GRCm39) S526P probably damaging Het
Pfkfb2 A G 1: 130,634,209 (GRCm39) V156A probably damaging Het
Ppp4r3a A T 12: 101,022,081 (GRCm39) D307E probably damaging Het
Rims4 T C 2: 163,721,042 (GRCm39) S70G probably damaging Het
Rnf213 T C 11: 119,332,665 (GRCm39) F2625L probably benign Het
Sap130 T C 18: 31,799,525 (GRCm39) L334P probably damaging Het
Slc16a10 T C 10: 39,952,796 (GRCm39) I233V probably benign Het
Slc16a7 A C 10: 125,066,791 (GRCm39) F283V possibly damaging Het
Slc25a24 T C 3: 109,043,586 (GRCm39) M81T probably benign Het
Slc30a9 A G 5: 67,484,264 (GRCm39) R134G probably damaging Het
Slc35d3 G T 10: 19,726,483 (GRCm39) L96M probably damaging Het
Slc7a11 C T 3: 50,336,345 (GRCm39) G333D probably damaging Het
Stk38 T A 17: 29,198,206 (GRCm39) N248I possibly damaging Het
Tasor2 A G 13: 3,626,374 (GRCm39) V1192A possibly damaging Het
Tle6 A C 10: 81,431,219 (GRCm39) S221A probably benign Het
Tmprss11b G A 5: 86,809,490 (GRCm39) T334I probably benign Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Tpm1 T C 9: 66,930,711 (GRCm39) H262R probably benign Het
Tspan33 T C 6: 29,711,081 (GRCm39) S118P possibly damaging Het
Tyk2 A G 9: 21,019,218 (GRCm39) V1068A probably damaging Het
Ubr2 T C 17: 47,283,877 (GRCm39) I591V probably benign Het
Utp20 A T 10: 88,600,599 (GRCm39) Y38* probably null Het
Vmn1r217 A T 13: 23,298,464 (GRCm39) I146N possibly damaging Het
Zfp608 T C 18: 55,031,126 (GRCm39) Y938C 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
R1018:Stam UTSW 2 14,122,185 (GRCm39) splice site 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
(F):5'- TGTAACTGAATGCCTCTGCTGAGTAAC -3'
(R):5'- ACTTCACCCGTGTTCTTACAAAGCC -3'

Sequencing Primer
(F):5'- CCTCTGCTGAGTAACTTTGGAATATG -3'
(R):5'- GTGTTCTTACAAAGCCAACTCTAGAC -3'
Posted On 2014-04-13