Incidental Mutation 'R6968:Stam'
ID 542088
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 045078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R6968 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 14078910-14153296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14120829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 78 (H78L)
Ref Sequence ENSEMBL: ENSMUSP00000121228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000138989] [ENSMUST00000193636]
AlphaFold P70297
Predicted Effect probably damaging
Transcript: ENSMUST00000028050
AA Change: H81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: H81L

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 damaging
Transcript: ENSMUST00000102960
AA Change: H81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: H81L

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 damaging
Transcript: ENSMUST00000138989
AA Change: H78L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121228
Gene: ENSMUSG00000026718
AA Change: H78L

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

DomainStartEndE-ValueType
Pfam:VHS 5 44 2e-8 PFAM
Meta Mutation Damage Score 0.7418 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 97% (57/59)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apip C T 2: 102,919,798 (GRCm39) L125F possibly damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Arhgef5 T C 6: 43,252,276 (GRCm39) V1009A probably benign Het
Asah2 A T 19: 31,989,913 (GRCm39) I489K probably benign Het
Bace1 A G 9: 45,766,263 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ccdc162 T C 10: 41,549,840 (GRCm39) T348A possibly damaging Het
Cdkn2aip C A 8: 48,166,922 (GRCm39) probably benign Het
Cep78 A C 19: 15,959,102 (GRCm39) F111V probably benign Het
Chd4 T A 6: 125,085,281 (GRCm39) L784Q probably damaging Het
Chrna6 C T 8: 27,896,683 (GRCm39) C398Y probably benign Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Cpne2 C T 8: 95,275,130 (GRCm39) P46L probably damaging Het
Cyp2w1 A G 5: 139,339,746 (GRCm39) Q112R probably damaging Het
Entpd3 A T 9: 120,389,722 (GRCm39) E336V probably benign Het
Fbxw28 A C 9: 109,159,856 (GRCm39) S197A probably benign Het
Foxk2 T C 11: 121,151,308 (GRCm39) F118L possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hinfp A C 9: 44,209,282 (GRCm39) S306A probably benign Het
Hspg2 T A 4: 137,262,467 (GRCm39) V1663E probably damaging Het
Inpp4b T C 8: 82,571,086 (GRCm39) I125T probably benign Het
Jag2 C T 12: 112,877,878 (GRCm39) E592K probably benign Het
Krt23 T A 11: 99,371,900 (GRCm39) E317V probably damaging Het
Ltbp2 C T 12: 84,835,857 (GRCm39) probably null Het
Mast4 G T 13: 102,934,586 (GRCm39) N152K probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mier2 G A 10: 79,376,476 (GRCm39) probably benign Het
Mmp9 A G 2: 164,794,860 (GRCm39) T584A probably benign Het
Necab1 T C 4: 14,957,852 (GRCm39) E335G probably damaging Het
Nlrp9b T A 7: 19,783,433 (GRCm39) N925K probably damaging Het
Nr4a2 T C 2: 56,998,758 (GRCm39) probably null Het
Nrg2 T C 18: 36,329,499 (GRCm39) I239V probably benign Het
Nsun2 A G 13: 69,779,409 (GRCm39) D562G probably benign Het
Odad2 T C 18: 7,273,155 (GRCm39) probably null Het
Or1e31 A G 11: 73,690,205 (GRCm39) I126T possibly damaging Het
Ormdl3 T A 11: 98,474,941 (GRCm39) M1L probably benign Het
Pcdh10 T A 3: 45,333,977 (GRCm39) V97D probably damaging Het
Pde3a T C 6: 141,433,658 (GRCm39) F847L probably damaging Het
Ppp1r13b C A 12: 111,799,612 (GRCm39) V722F possibly damaging Het
Rhoh A G 5: 66,049,862 (GRCm39) D44G possibly damaging Het
Riox1 C T 12: 83,998,147 (GRCm39) R228C probably damaging Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Saxo2 T C 7: 82,292,969 (GRCm39) T43A probably damaging Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sema3f C T 9: 107,568,648 (GRCm39) probably null Het
Snap25 T C 2: 136,611,690 (GRCm39) M64T probably benign Het
Spef2 T C 15: 9,597,426 (GRCm39) N1410S probably benign Het
Sstr2 T C 11: 113,515,774 (GRCm39) I231T probably damaging Het
Suox C T 10: 128,507,702 (GRCm39) V109I possibly damaging Het
Syne1 T C 10: 5,067,041 (GRCm39) R7075G probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tln1 C T 4: 43,550,217 (GRCm39) R482Q probably benign Het
Tnrc6a T C 7: 122,781,650 (GRCm39) V1440A probably benign Het
Togaram2 A G 17: 72,016,608 (GRCm39) D655G probably damaging Het
Trgv2 A T 13: 19,520,896 (GRCm39) I66K probably damaging Het
Vmn1r113 A T 7: 20,521,876 (GRCm39) I223F probably damaging Het
Vmn2r62 T A 7: 42,437,866 (GRCm39) H206L probably benign Het
Zan T A 5: 137,460,075 (GRCm39) Y1272F unknown Het
Zfp39 T C 11: 58,782,306 (GRCm39) H152R probably benign Het
Zfp41 T A 15: 75,490,310 (GRCm39) Y87* probably null Het
Zfp933 A T 4: 147,910,654 (GRCm39) L314H 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
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
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'- TGATTGGAGGGACCTCGATG -3'
(R):5'- AGTTCTTACAGTCTAGGAAACACAC -3'

Sequencing Primer
(F):5'- CGTTCCATTATGAGAAGAGTGAACC -3'
(R):5'- ACACATACACAAACGTTCTTTGG -3'
Posted On 2018-11-28