Incidental Mutation 'IGL02716:Stambp'
ID304782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stambp
Ensembl Gene ENSMUSG00000006906
Gene NameSTAM binding protein
Synonyms5730422L11Rik, Amsh, 5330424L14Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.843) question?
Stock #IGL02716
Quality Score
Status
Chromosome6
Chromosomal Location83543211-83572729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 83556390 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 297 (T297I)
Ref Sequence ENSEMBL: ENSMUSP00000146294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068054] [ENSMUST00000206400] [ENSMUST00000206592]
Predicted Effect probably damaging
Transcript: ENSMUST00000068054
AA Change: T297I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: T297I

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: ENSMUST00000205369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205829
Predicted Effect probably damaging
Transcript: ENSMUST00000206400
AA Change: T297I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206592
AA Change: T297I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
F10 A T 8: 13,048,177 K127* probably null Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null 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
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
R1170:Stambp UTSW 6 83563821 critical splice donor site probably null
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
Posted On2015-04-16