Incidental Mutation 'R1170:Stambp'
ID99296
Institutional Source Beutler Lab
Gene Symbol Stambp
Ensembl Gene ENSMUSG00000006906
Gene NameSTAM binding protein
Synonyms5730422L11Rik, Amsh, 5330424L14Rik
MMRRC Submission 039243-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.838) question?
Stock #R1170 (G1)
Quality Score218
Status Validated
Chromosome6
Chromosomal Location83543211-83572729 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 83563821 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068054] [ENSMUST00000206400] [ENSMUST00000206592]
Predicted Effect probably null
Transcript: ENSMUST00000068054
SMART Domains Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906

DomainStartEndE-ValueType
Pfam:USP8_dimer 8 117 4.9e-23 PFAM
low complexity region 143 161 N/A INTRINSIC
low complexity region 189 200 N/A INTRINSIC
JAB_MPN 256 382 1.81e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205648
Predicted Effect probably null
Transcript: ENSMUST00000206400
Predicted Effect probably null
Transcript: ENSMUST00000206592
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (105/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die of starvation at weaning exhibiting postnatal growth retardation, limb-clasping, a hypocellular cerebral cortex, and severe loss of hippocampal CA1 neurons accompanied by apoptosis; one-third of mutant mice display blepharoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,980,412 probably benign Het
4932438A13Rik T C 3: 37,044,631 S1136P probably damaging Het
Akap9 G A 5: 4,055,671 S2914N probably benign Het
Alk T C 17: 71,900,734 D1002G probably damaging Het
Ap3d1 A G 10: 80,732,840 probably benign Het
Asb15 T C 6: 24,562,487 probably benign Het
Asxl3 C A 18: 22,524,507 P1858Q probably benign Het
BC003331 T A 1: 150,386,391 E99D probably benign Het
Bud31 T A 5: 145,142,578 probably benign Het
C1qtnf1 G T 11: 118,448,269 R255L probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cage1 C T 13: 38,022,880 E330K probably damaging Het
Catsperz T A 19: 6,924,949 N59I probably benign Het
Ccdc110 G T 8: 45,941,885 S271I probably benign Het
Ccdc88b T A 19: 6,853,213 E787V probably damaging Het
Ccna2 A T 3: 36,568,970 probably benign Het
Cd36 T A 5: 17,813,088 D209V probably damaging Het
Cers4 T A 8: 4,519,475 W161R probably damaging Het
Ces2f T A 8: 104,953,546 H442Q probably damaging Het
Chchd6 A C 6: 89,384,687 C245G probably damaging Het
Cndp1 T G 18: 84,611,625 Q481P probably benign Het
Col3a1 A G 1: 45,327,601 R234G unknown Het
Col3a1 A T 1: 45,347,724 N232I probably damaging Het
Colgalt2 A T 1: 152,503,017 D398V probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,348,082 probably null Het
Dcdc2a C A 13: 25,056,307 Q13K probably benign Het
Dzip3 A T 16: 48,961,208 I240N probably damaging Het
Epb41l3 T A 17: 69,259,180 L452* probably null Het
Fam193b C T 13: 55,541,705 A753T probably damaging Het
Fam35a A T 14: 34,268,491 S153T possibly damaging Het
Fam47e G C 5: 92,565,922 probably benign Het
Fastkd1 A G 2: 69,708,649 probably benign Het
Fmnl1 G A 11: 103,197,370 G69D probably benign Het
Foxn2 A G 17: 88,473,666 probably benign Het
Fsip2 A G 2: 82,991,500 E5859G possibly damaging Het
Gm9894 T A 13: 67,764,701 noncoding transcript Het
H2-Bl T C 17: 36,081,091 N44S possibly damaging Het
Helz2 T C 2: 181,229,815 Y2668C probably damaging Het
Hhipl1 T A 12: 108,311,693 C93* probably null Het
Lig1 C T 7: 13,292,153 A278V probably benign Het
Lipn T A 19: 34,071,758 I108K probably benign Het
Lsamp A G 16: 42,151,229 probably benign Het
Map3k14 A G 11: 103,238,917 probably benign Het
Mdm4 A T 1: 132,991,820 C436S probably damaging Het
Mdm4 A G 1: 133,012,692 L33P probably damaging Het
Meiob T C 17: 24,836,484 W422R probably damaging Het
Mppe1 T C 18: 67,227,706 Y254C probably damaging Het
Mterf1a A T 5: 3,890,964 N301K probably benign Het
Muc6 C T 7: 141,644,233 S1210N probably damaging Het
Mycbp2 A T 14: 103,200,152 Y2091* probably null Het
Mylk G A 16: 34,874,039 R156H probably benign Het
Myo15 G T 11: 60,479,407 D998Y probably benign Het
Neb A T 2: 52,196,357 Y5235N probably damaging Het
Nop58 A G 1: 59,704,211 probably benign Het
Nr4a3 A G 4: 48,051,564 H135R probably damaging Het
Nr4a3 A G 4: 48,083,324 K619R probably benign Het
Nrg1 T C 8: 31,837,667 probably benign Het
Olfr1031 A T 2: 85,992,696 N293I probably damaging Het
Olfr1312 A T 2: 112,042,215 D272E probably benign Het
Olfr1484 T C 19: 13,586,213 V260A probably benign Het
Olfr938 T A 9: 39,078,229 D172V possibly damaging Het
Parp3 T C 9: 106,476,005 probably benign Het
Pde2a A G 7: 101,484,543 E103G probably benign Het
Pds5a A T 5: 65,635,302 probably benign Het
Pip4k2c A G 10: 127,211,393 V40A unknown Het
Pitrm1 T C 13: 6,552,744 probably benign Het
Plk4 A G 3: 40,801,847 I64M probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Ppp2r1a T C 17: 20,951,331 probably benign Het
Ppp4r3b T A 11: 29,209,426 N172K probably damaging Het
Prkcg G A 7: 3,319,661 R357Q probably damaging Het
Prmt3 T C 7: 49,848,547 probably null Het
Prx T A 7: 27,518,007 C644* probably null Het
Ptpru A G 4: 131,808,527 probably benign Het
Rbm5 A T 9: 107,742,497 D738E probably damaging Het
Recql5 A T 11: 115,897,234 Y420N probably damaging Het
Rnf17 T C 14: 56,425,631 I152T probably benign Het
Rnpepl1 A G 1: 92,919,195 S580G possibly damaging Het
Ryr3 C T 2: 112,946,987 G275D probably damaging Het
Serpinb9e T A 13: 33,257,752 Y222* probably null Het
Slc10a1 T A 12: 80,956,028 I279F probably damaging Het
Slc12a8 G T 16: 33,662,977 G584V probably damaging Het
Slc35b3 T A 13: 38,937,331 Y311F probably benign Het
Slc44a5 A G 3: 154,257,720 probably null Het
Slc6a9 A G 4: 117,864,806 E422G possibly damaging Het
Smpd2 A G 10: 41,488,732 probably null Het
Spast A G 17: 74,381,968 probably null Het
Spink5 A T 18: 43,983,563 E208V probably benign Het
Stag1 T C 9: 100,888,453 probably benign Het
Sult3a2 A T 10: 33,777,192 M184K possibly damaging Het
Tcp11 T C 17: 28,071,662 D162G probably damaging Het
Themis A C 10: 28,668,748 E30A possibly damaging Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem131 A T 1: 36,834,898 Y271* probably null Het
Trim35 T A 14: 66,308,799 S338R probably benign Het
Trim42 C A 9: 97,363,620 V376F probably benign Het
Tshr A T 12: 91,538,097 K11M probably damaging Het
Vps8 A G 16: 21,459,820 probably benign Het
Wdr11 T C 7: 129,607,107 probably benign Het
Wdr26 A T 1: 181,181,294 probably benign Het
Wdtc1 A G 4: 133,297,546 Y447H probably damaging Het
Zfp687 C T 3: 95,008,473 C996Y probably damaging Het
Zfp984 A T 4: 147,755,989 V135E probably benign Het
Zranb2 T C 3: 157,541,865 probably benign Het
Other mutations in Stambp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Stambp APN 6 83556298 missense probably damaging 1.00
IGL00720:Stambp APN 6 83570437 missense probably damaging 1.00
IGL02019:Stambp APN 6 83552031 missense probably damaging 1.00
IGL02328:Stambp APN 6 83556381 missense possibly damaging 0.62
IGL02716:Stambp APN 6 83556390 missense probably damaging 1.00
IGL03069:Stambp APN 6 83561932 missense probably damaging 1.00
R0465:Stambp UTSW 6 83570339 missense probably benign 0.38
R0699:Stambp UTSW 6 83556321 missense probably damaging 1.00
R2234:Stambp UTSW 6 83551978 missense probably damaging 1.00
R3724:Stambp UTSW 6 83557466 missense probably damaging 1.00
R4415:Stambp UTSW 6 83557482 missense probably damaging 1.00
R4617:Stambp UTSW 6 83561978 nonsense probably null
R4857:Stambp UTSW 6 83556366 missense probably benign 0.00
R5109:Stambp UTSW 6 83563821 critical splice donor site probably null
R5578:Stambp UTSW 6 83561800 missense probably benign 0.00
R7378:Stambp UTSW 6 83563906 missense not run
R7652:Stambp UTSW 6 83563928 splice site probably null
Predicted Primers
Posted On2014-01-15