Incidental Mutation 'IGL00720:Stambp'
ID 14258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stambp
Ensembl Gene ENSMUSG00000006906
Gene Name STAM binding protein
Synonyms 5730422L11Rik, 5330424L14Rik, Amsh
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # IGL00720
Quality Score
Status
Chromosome 6
Chromosomal Location 83520193-83549711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83547419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 23 (S23R)
Ref Sequence ENSEMBL: ENSMUSP00000146294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068054] [ENSMUST00000206400] [ENSMUST00000206592]
AlphaFold Q9CQ26
Predicted Effect probably damaging
Transcript: ENSMUST00000068054
AA Change: S23R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: S23R

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: ENSMUST00000205345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205648
Predicted Effect probably damaging
Transcript: ENSMUST00000206400
AA Change: S23R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206592
AA Change: S23R

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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cul4a A G 8: 13,177,735 (GRCm39) K292E probably benign Het
Fat2 T C 11: 55,202,070 (GRCm39) T335A probably benign Het
Hrh2 T C 13: 54,368,840 (GRCm39) V272A possibly damaging Het
Jak3 A G 8: 72,136,681 (GRCm39) I663V probably damaging Het
Kifc3 A G 8: 95,864,644 (GRCm39) V22A probably damaging Het
Nat8f1 A G 6: 85,887,957 (GRCm39) M1T probably null Het
Scn7a A T 2: 66,506,388 (GRCm39) S1500R possibly damaging Het
Tenm3 T C 8: 48,729,456 (GRCm39) N1517D probably damaging Het
Zfp663 A T 2: 165,194,525 (GRCm39) F565I probably damaging Het
Zng1 T C 19: 24,898,495 (GRCm39) D321G probably benign Het
Zscan26 C T 13: 21,629,369 (GRCm39) R378H probably benign Het
Other mutations in Stambp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Stambp APN 6 83,533,280 (GRCm39) missense probably damaging 1.00
IGL02019:Stambp APN 6 83,529,013 (GRCm39) missense probably damaging 1.00
IGL02328:Stambp APN 6 83,533,363 (GRCm39) missense possibly damaging 0.62
IGL02716:Stambp APN 6 83,533,372 (GRCm39) missense probably damaging 1.00
IGL03069:Stambp APN 6 83,538,914 (GRCm39) missense probably damaging 1.00
denouement UTSW 6 83,528,954 (GRCm39) missense probably damaging 1.00
R0465:Stambp UTSW 6 83,547,321 (GRCm39) missense probably benign 0.38
R0699:Stambp UTSW 6 83,533,303 (GRCm39) missense probably damaging 1.00
R1170:Stambp UTSW 6 83,540,803 (GRCm39) critical splice donor site probably null
R2234:Stambp UTSW 6 83,528,960 (GRCm39) missense probably damaging 1.00
R3724:Stambp UTSW 6 83,534,448 (GRCm39) missense probably damaging 1.00
R4415:Stambp UTSW 6 83,534,464 (GRCm39) missense probably damaging 1.00
R4617:Stambp UTSW 6 83,538,960 (GRCm39) nonsense probably null
R4857:Stambp UTSW 6 83,533,348 (GRCm39) missense probably benign 0.00
R5109:Stambp UTSW 6 83,540,803 (GRCm39) critical splice donor site probably null
R5578:Stambp UTSW 6 83,538,782 (GRCm39) missense probably benign 0.00
R7378:Stambp UTSW 6 83,540,888 (GRCm39) missense not run
R7652:Stambp UTSW 6 83,540,910 (GRCm39) splice site probably null
R8353:Stambp UTSW 6 83,538,881 (GRCm39) missense probably damaging 1.00
R8803:Stambp UTSW 6 83,524,212 (GRCm39) critical splice donor site probably null
R9208:Stambp UTSW 6 83,528,954 (GRCm39) missense probably damaging 1.00
R9766:Stambp UTSW 6 83,534,469 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06