Incidental Mutation 'IGL02328:Stambp'
ID 288571
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: 0.812) question?
Stock # IGL02328
Quality Score
Status
Chromosome 6
Chromosomal Location 83520193-83549711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83533363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 300 (L300P)
Ref Sequence ENSEMBL: ENSMUSP00000146294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068054] [ENSMUST00000206400] [ENSMUST00000206592]
AlphaFold Q9CQ26
Predicted Effect possibly damaging
Transcript: ENSMUST00000068054
AA Change: L300P

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: L300P

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 possibly damaging
Transcript: ENSMUST00000206400
AA Change: L300P

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206592
AA Change: L300P

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,726,294 (GRCm39) N577I probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
Btk G A X: 133,459,449 (GRCm39) P192L probably damaging Het
Col12a1 T A 9: 79,589,348 (GRCm39) Y1069F probably damaging Het
Dnah7a C T 1: 53,564,096 (GRCm39) probably null Het
E230025N22Rik A G 18: 36,828,667 (GRCm39) S4P probably damaging Het
Ei24 A T 9: 36,696,827 (GRCm39) probably null Het
Foxred2 A G 15: 77,840,032 (GRCm39) L86P probably damaging Het
Gm3127 A T 14: 15,424,989 (GRCm39) R42W probably damaging Het
Hgf A G 5: 16,803,219 (GRCm39) Y377C probably damaging Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Iqcg T G 16: 32,839,876 (GRCm39) I357L probably benign Het
Itsn1 T C 16: 91,612,295 (GRCm39) L204P probably damaging Het
Kalrn T C 16: 34,152,594 (GRCm39) N311S probably damaging Het
Lmod2 A G 6: 24,603,832 (GRCm39) D269G probably benign Het
Med16 A G 10: 79,743,376 (GRCm39) S29P probably damaging Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Myo15a A G 11: 60,417,433 (GRCm39) I3443V probably benign Het
Naip2 A T 13: 100,297,877 (GRCm39) L720I probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Or4z4 T A 19: 12,076,146 (GRCm39) I286F probably damaging Het
Or52ab4 A T 7: 102,987,497 (GRCm39) I79F probably damaging Het
Or6c213 T C 10: 129,573,895 (GRCm39) D297G probably benign Het
Or8b1b A T 9: 38,375,972 (GRCm39) I212F probably benign Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,259,477 (GRCm39) Q1286R probably damaging Het
Scgb2b24 A G 7: 33,438,050 (GRCm39) probably benign Het
Sh2b3 T C 5: 121,955,922 (GRCm39) D520G probably benign Het
Skint4 T A 4: 111,977,255 (GRCm39) I215N possibly damaging Het
Slc24a5 A G 2: 124,922,559 (GRCm39) D107G probably damaging Het
Slit2 T C 5: 48,387,646 (GRCm39) I549T probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tm9sf2 T G 14: 122,380,842 (GRCm39) V145G possibly damaging Het
Tor1aip2 G T 1: 155,940,720 (GRCm39) C342F probably damaging Het
Ubr4 C T 4: 139,206,233 (GRCm39) T4823M probably damaging Het
Vmn1r80 G T 7: 11,927,405 (GRCm39) A172S probably benign Het
Vmn2r67 T A 7: 84,799,898 (GRCm39) N447Y probably benign Het
Zbtb1 A G 12: 76,433,450 (GRCm39) N479D possibly damaging Het
Other mutations in Stambp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Stambp APN 6 83,533,280 (GRCm39) missense probably damaging 1.00
IGL00720:Stambp APN 6 83,547,419 (GRCm39) missense probably damaging 1.00
IGL02019:Stambp APN 6 83,529,013 (GRCm39) missense probably damaging 1.00
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 2015-04-16