Incidental Mutation 'R1631:Stam'
ID 172774
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 039668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R1631 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 14078910-14153296 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 14151059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 472 (S472*)
Ref Sequence ENSEMBL: ENSMUSP00000100025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000193636]
AlphaFold P70297
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: S472*
SMART Domains Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: S472*

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,756,316 (GRCm39) S320T probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Als2 T C 1: 59,257,226 (GRCm39) E12G probably benign Het
Arhgef10 A T 8: 14,997,157 (GRCm39) D321V probably damaging Het
Atp8a1 T G 5: 67,906,395 (GRCm39) probably null Het
Avil A G 10: 126,846,494 (GRCm39) probably null Het
C2cd3 G A 7: 100,021,704 (GRCm39) probably null Het
Cdhr18 C T 14: 13,829,796 (GRCm38) E649K probably damaging Het
Col18a1 G A 10: 76,895,131 (GRCm39) P1177S probably damaging Het
Copb2 T A 9: 98,462,213 (GRCm39) F428L probably benign Het
Cpa1 A G 6: 30,640,923 (GRCm39) E138G probably damaging Het
Ctsm T C 13: 61,686,249 (GRCm39) I12V possibly damaging Het
Dctn1 A G 6: 83,174,578 (GRCm39) Q967R possibly damaging Het
Dok2 T C 14: 71,014,393 (GRCm39) Y194H probably damaging Het
Ezh2 C T 6: 47,554,592 (GRCm39) M1I probably null Het
Fkbp8 T A 8: 70,984,282 (GRCm39) L210Q probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
Gal3st2b T A 1: 93,868,505 (GRCm39) D243E probably damaging Het
Gm5422 A G 10: 31,125,802 (GRCm39) noncoding transcript Het
Gucy1a2 A G 9: 3,533,052 (GRCm39) N84D probably damaging Het
Hsd3b5 A C 3: 98,529,393 (GRCm39) V79G probably damaging Het
Htr6 A T 4: 138,788,804 (GRCm39) V417E probably benign Het
Ifnar2 G A 16: 91,188,755 (GRCm39) V79I probably benign Het
Ighv10-1 T C 12: 114,443,102 (GRCm39) probably benign Het
Itpr2 A G 6: 146,081,788 (GRCm39) F182L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama3 A G 18: 12,540,551 (GRCm39) Y285C probably damaging Het
Lamc2 C A 1: 153,034,680 (GRCm39) V108L possibly damaging Het
Lrrc14b A G 13: 74,509,373 (GRCm39) probably null Het
Magi3 T C 3: 103,958,493 (GRCm39) T531A probably benign Het
Mapre2 A G 18: 23,966,011 (GRCm39) Y32C probably damaging Het
Med1 C T 11: 98,046,452 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nt5el C A 13: 105,218,749 (GRCm39) Q28K probably benign Het
Or10a3b A C 7: 108,445,064 (GRCm39) L51R probably damaging Het
Or51h1 A G 7: 102,308,408 (GRCm39) I127V probably damaging Het
Or5h23 G A 16: 58,906,408 (GRCm39) T146I probably benign Het
Or7a35 A T 10: 78,853,239 (GRCm39) I28L probably benign Het
Pde1b A G 15: 103,430,099 (GRCm39) T143A probably damaging Het
Pkhd1 T C 1: 20,593,121 (GRCm39) D1664G probably benign Het
Plod3 C T 5: 137,017,847 (GRCm39) R208W probably damaging Het
Pstk G A 7: 130,986,271 (GRCm39) A277T possibly damaging Het
Qrich1 T C 9: 108,411,684 (GRCm39) V403A probably damaging Het
Rad21 C A 15: 51,833,436 (GRCm39) V348F probably damaging Het
Sacs T A 14: 61,448,181 (GRCm39) L3409* probably null Het
Setd4 T A 16: 93,390,136 (GRCm39) K98* probably null Het
Skint5 A G 4: 113,341,123 (GRCm39) V1385A probably benign Het
Stx2 A G 5: 129,069,289 (GRCm39) F141L probably damaging Het
Tia1 A G 6: 86,397,330 (GRCm39) D101G probably damaging Het
Ttc21a T A 9: 119,783,228 (GRCm39) probably null Het
Usp34 T A 11: 23,410,651 (GRCm39) N2700K 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
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'- CCGTGAATGAAGCCTTGCTTGAAAG -3'
(R):5'- TCAGCGGAAATATGCCACCAAGAG -3'

Sequencing Primer
(F):5'- gcctccatccaacactctac -3'
(R):5'- AGTCCTATAGCAGAGCCTTCTGAG -3'
Posted On 2014-04-24