Incidental Mutation 'IGL01593:Ston1'
ID91655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ston1
Ensembl Gene ENSMUSG00000033855
Gene Namestonin 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL01593
Quality Score
Status
Chromosome17
Chromosomal Location88597684-88662586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 88637010 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 615 (G615R)
Ref Sequence ENSEMBL: ENSMUSP00000131703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064035] [ENSMUST00000137138] [ENSMUST00000150023] [ENSMUST00000163588]
Predicted Effect probably null
Transcript: ENSMUST00000064035
AA Change: G615R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: G615R

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
Pfam:Adap_comp_sub 396 707 5.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132384
Predicted Effect probably null
Transcript: ENSMUST00000137138
SMART Domains Protein: ENSMUSP00000118522
Gene: ENSMUSG00000033855

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000150023
AA Change: G615R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: G615R

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
Pfam:Adap_comp_sub 396 707 5.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153613
Predicted Effect probably null
Transcript: ENSMUST00000163588
AA Change: G615R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: G615R

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
Pfam:Adap_comp_sub 396 711 2.1e-64 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are overtly normal. Mouse embryonic fibroblasts derived from homozygous null mice display alterations in focal adhesion dynamics and an increase in cellular signaling and directional cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,650 I310N probably damaging Het
Ackr4 C T 9: 104,085,931 probably benign Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Atp6v1e2 A T 17: 86,944,299 F224I probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Klhdc7a A G 4: 139,966,814 I274T probably damaging Het
Lrwd1 A T 5: 136,134,629 L71Q probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Prss32 A G 17: 23,856,008 T111A probably benign Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably damaging Het
Other mutations in Ston1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Ston1 APN 17 88644443 missense probably benign 0.00
FR4449:Ston1 UTSW 17 88635525 missense probably benign 0.38
R0610:Ston1 UTSW 17 88635281 missense possibly damaging 0.49
R1421:Ston1 UTSW 17 88635793 missense probably benign 0.02
R1620:Ston1 UTSW 17 88635816 missense probably benign 0.01
R2002:Ston1 UTSW 17 88635529 missense probably benign 0.01
R3108:Ston1 UTSW 17 88636155 nonsense probably null
R3766:Ston1 UTSW 17 88635360 missense probably damaging 1.00
R4222:Ston1 UTSW 17 88636771 missense probably damaging 1.00
R4335:Ston1 UTSW 17 88635697 missense probably damaging 1.00
R4355:Ston1 UTSW 17 88637008 missense probably damaging 1.00
R4867:Ston1 UTSW 17 88635694 missense probably damaging 1.00
R4902:Ston1 UTSW 17 88645252 missense probably damaging 0.99
R5084:Ston1 UTSW 17 88636574 missense probably benign 0.00
R5434:Ston1 UTSW 17 88645311 utr 3 prime probably benign
R5700:Ston1 UTSW 17 88644339 missense probably damaging 1.00
R5858:Ston1 UTSW 17 88635631 missense possibly damaging 0.93
R5863:Ston1 UTSW 17 88635945 missense possibly damaging 0.64
R6458:Ston1 UTSW 17 88635303 missense probably benign 0.14
R6459:Ston1 UTSW 17 88636468 missense probably benign 0.16
R7012:Ston1 UTSW 17 88635985 missense probably damaging 1.00
R7466:Ston1 UTSW 17 88635901 missense probably benign 0.03
R7825:Ston1 UTSW 17 88636453 missense possibly damaging 0.78
Posted On2013-12-09