Incidental Mutation 'IGL03069:Stambp'
ID 409823
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 # IGL03069
Quality Score
Status
Chromosome 6
Chromosomal Location 83520193-83549711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83538914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 162 (F162S)
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: F162S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: F162S

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: ENSMUST00000205648
Predicted Effect probably damaging
Transcript: ENSMUST00000206400
AA Change: F162S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206592
AA Change: F162S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,607,704 (GRCm39) probably null Het
Acp3 T C 9: 104,197,204 (GRCm39) E145G possibly damaging Het
Ankrd28 T A 14: 31,477,743 (GRCm39) K42* probably null Het
Arsg A T 11: 109,454,082 (GRCm39) K429N probably damaging Het
Bsn G A 9: 107,991,462 (GRCm39) T1430I probably damaging Het
Calu A G 6: 29,356,582 (GRCm39) D36G possibly damaging Het
Ccdc18 T C 5: 108,376,767 (GRCm39) S1403P probably damaging Het
Cdca2 A G 14: 67,952,385 (GRCm39) probably benign Het
Cfh C A 1: 140,026,793 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,869,537 (GRCm39) G161S probably benign Het
Dennd4c C A 4: 86,692,674 (GRCm39) Y61* probably null Het
Diaph3 A G 14: 87,009,555 (GRCm39) S1075P probably damaging Het
Dpp7 T A 2: 25,245,735 (GRCm39) probably null Het
Dtd1 T A 2: 144,588,981 (GRCm39) probably benign Het
Dtl C A 1: 191,289,008 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,390,457 (GRCm39) D344G probably damaging Het
Hsp90ab1 A T 17: 45,879,954 (GRCm39) C159S possibly damaging Het
Kcnip2 T C 19: 45,784,710 (GRCm39) probably benign Het
Krba1 A G 6: 48,391,483 (GRCm39) T755A possibly damaging Het
L2hgdh C T 12: 69,739,173 (GRCm39) V433I probably benign Het
Lamc1 A T 1: 153,115,127 (GRCm39) L1050I probably damaging Het
Lgals4 A T 7: 28,540,343 (GRCm39) I213L probably benign Het
Lysmd1 A G 3: 95,044,945 (GRCm39) I64V probably damaging Het
Mfsd4b4 A C 10: 39,768,311 (GRCm39) C261G probably benign Het
Mrgprb3 T A 7: 48,293,198 (GRCm39) I118F possibly damaging Het
Mtmr2 T A 9: 13,704,501 (GRCm39) Y137* probably null Het
Ofcc1 A T 13: 40,226,140 (GRCm39) H797Q probably benign Het
Omd A T 13: 49,745,870 (GRCm39) probably benign Het
Or5d46 C T 2: 88,170,643 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,728 (GRCm39) M1K probably null Het
Polr3a T A 14: 24,511,808 (GRCm39) D916V probably damaging Het
Prpf38a T C 4: 108,432,628 (GRCm39) Y117C probably damaging Het
Scn11a C T 9: 119,619,029 (GRCm39) G771D probably benign Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Snx1 T A 9: 66,001,906 (GRCm39) I306F probably benign Het
Snx31 T A 15: 36,525,749 (GRCm39) R317* probably null Het
Sorl1 T C 9: 41,902,722 (GRCm39) T1612A probably benign Het
Spag1 G T 15: 36,224,245 (GRCm39) probably benign Het
Tkfc T A 19: 10,576,518 (GRCm39) M122L probably benign Het
Tnni3k T A 3: 154,647,242 (GRCm39) probably null Het
Trim56 T C 5: 137,142,616 (GRCm39) Q300R probably damaging Het
Ttc24 T A 3: 87,977,408 (GRCm39) T113S probably benign Het
Xirp2 A T 2: 67,339,876 (GRCm39) T706S possibly damaging Het
Yipf5 T A 18: 40,339,290 (GRCm39) probably benign Het
Zfp202 T C 9: 40,122,695 (GRCm39) S486P probably damaging Het
Zfp407 A G 18: 84,369,100 (GRCm39) S1676P probably damaging Het
Znrd2 G T 19: 5,780,450 (GRCm39) L183I 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
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
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 2016-08-02