Incidental Mutation 'R1620:Ston1'
ID 174639
Institutional Source Beutler Lab
Gene Symbol Ston1
Ensembl Gene ENSMUSG00000033855
Gene Name stonin 1
Synonyms 4921524J06Rik
MMRRC Submission 039657-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R1620 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 88905043-88955293 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88943244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 217 (T217A)
Ref Sequence ENSEMBL: ENSMUSP00000118522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064035] [ENSMUST00000137138] [ENSMUST00000150023] [ENSMUST00000163588]
AlphaFold Q8CDJ8
Predicted Effect probably benign
Transcript: ENSMUST00000064035
AA Change: T217A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: T217A

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 benign
Transcript: ENSMUST00000137138
AA Change: T217A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118522
Gene: ENSMUSG00000033855
AA Change: T217A

DomainStartEndE-ValueType
low complexity region 50 65 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150023
AA Change: T217A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: T217A

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 benign
Transcript: ENSMUST00000163588
AA Change: T217A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: T217A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 95% (58/61)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c2 T C 8: 120,475,865 (GRCm39) V586A probably benign Het
Atp8a2 T A 14: 60,028,632 (GRCm39) H945L probably benign Het
Bfar G T 16: 13,506,710 (GRCm39) V187F probably damaging Het
Capn2 A T 1: 182,344,702 (GRCm39) I73N probably damaging Het
Cfc1 C A 1: 34,575,554 (GRCm39) A76E possibly damaging Het
Chl1 T C 6: 103,667,203 (GRCm39) F398L probably benign Het
Cyp2u1 A G 3: 131,096,350 (GRCm39) S143P probably damaging Het
Dlgap4 T A 2: 156,591,056 (GRCm39) Y57* probably null Het
Epha4 T A 1: 77,351,563 (GRCm39) R897S probably benign Het
Fscn2 A T 11: 120,257,511 (GRCm39) T291S probably damaging Het
Gga1 G A 15: 78,772,670 (GRCm39) S267N probably damaging Het
Gigyf2 A G 1: 87,376,850 (GRCm39) T1287A probably damaging Het
Gm10845 C A 14: 80,100,669 (GRCm39) noncoding transcript Het
Gm11559 T A 11: 99,755,882 (GRCm39) L177Q unknown Het
Itga9 A G 9: 118,672,570 (GRCm39) T195A probably benign Het
Krbox5 T C 13: 67,991,109 (GRCm39) probably benign Het
Lama1 A G 17: 68,074,028 (GRCm39) T935A probably benign Het
Lrrk1 G T 7: 66,031,286 (GRCm39) T4K probably benign Het
Lrrn1 G A 6: 107,545,327 (GRCm39) C375Y probably damaging Het
Maip1 T C 1: 57,449,144 (GRCm39) probably null Het
Mecom A T 3: 30,041,237 (GRCm39) I119N probably damaging Het
Mrpl2 G A 17: 46,958,425 (GRCm39) R69H probably benign Het
Muc16 A G 9: 18,421,773 (GRCm39) V8246A possibly damaging Het
Myh3 C T 11: 66,979,562 (GRCm39) probably benign Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Myot A T 18: 44,470,125 (GRCm39) Q34L possibly damaging Het
Nlrp5 A G 7: 23,118,064 (GRCm39) D596G probably damaging Het
Npas2 T C 1: 39,372,993 (GRCm39) S415P possibly damaging Het
Obox2 A G 7: 15,130,966 (GRCm39) E66G probably benign Het
Or4f59 G T 2: 111,872,591 (GRCm39) T262K probably benign Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Phactr1 G T 13: 43,248,373 (GRCm39) V356L probably damaging Het
Pparg A T 6: 115,450,242 (GRCm39) I414L probably benign Het
Rapgef6 A T 11: 54,517,420 (GRCm39) I371L possibly damaging Het
Rc3h1 T C 1: 160,782,543 (GRCm39) V674A probably benign Het
Rps6ka4 T C 19: 6,815,517 (GRCm39) Y159C probably damaging Het
Sf3b6 T C 12: 4,876,808 (GRCm39) I67T possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spata17 T C 1: 186,915,412 (GRCm39) probably benign Het
Tank A G 2: 61,480,442 (GRCm39) D326G possibly damaging Het
Tbc1d9 T A 8: 83,976,224 (GRCm39) N594K probably damaging Het
Tfpi2 T A 6: 3,965,507 (GRCm39) T102S probably benign Het
Ulk4 T G 9: 121,033,871 (GRCm39) E589D possibly damaging Het
Usp40 A T 1: 87,921,947 (GRCm39) H305Q probably damaging Het
Vmn1r170 A G 7: 23,305,754 (GRCm39) K52R probably benign Het
Vmn1r194 A G 13: 22,429,133 (GRCm39) D250G probably damaging Het
Wdr6 A T 9: 108,451,854 (GRCm39) D676E possibly damaging Het
Xirp2 T A 2: 67,341,179 (GRCm39) V1140E probably damaging Het
Other mutations in Ston1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Ston1 APN 17 88,951,871 (GRCm39) missense probably benign 0.00
IGL01593:Ston1 APN 17 88,944,438 (GRCm39) missense probably null 1.00
BB010:Ston1 UTSW 17 88,943,572 (GRCm39) missense probably benign 0.10
BB020:Ston1 UTSW 17 88,943,572 (GRCm39) missense probably benign 0.10
FR4449:Ston1 UTSW 17 88,942,953 (GRCm39) missense probably benign 0.38
R0610:Ston1 UTSW 17 88,942,709 (GRCm39) missense possibly damaging 0.49
R1421:Ston1 UTSW 17 88,943,221 (GRCm39) missense probably benign 0.02
R2002:Ston1 UTSW 17 88,942,957 (GRCm39) missense probably benign 0.01
R3108:Ston1 UTSW 17 88,943,583 (GRCm39) nonsense probably null
R3766:Ston1 UTSW 17 88,942,788 (GRCm39) missense probably damaging 1.00
R4222:Ston1 UTSW 17 88,944,199 (GRCm39) missense probably damaging 1.00
R4335:Ston1 UTSW 17 88,943,125 (GRCm39) missense probably damaging 1.00
R4355:Ston1 UTSW 17 88,944,436 (GRCm39) missense probably damaging 1.00
R4867:Ston1 UTSW 17 88,943,122 (GRCm39) missense probably damaging 1.00
R4902:Ston1 UTSW 17 88,952,680 (GRCm39) missense probably damaging 0.99
R5084:Ston1 UTSW 17 88,944,002 (GRCm39) missense probably benign 0.00
R5434:Ston1 UTSW 17 88,952,739 (GRCm39) utr 3 prime probably benign
R5700:Ston1 UTSW 17 88,951,767 (GRCm39) missense probably damaging 1.00
R5858:Ston1 UTSW 17 88,943,059 (GRCm39) missense possibly damaging 0.93
R5863:Ston1 UTSW 17 88,943,373 (GRCm39) missense possibly damaging 0.64
R6458:Ston1 UTSW 17 88,942,731 (GRCm39) missense probably benign 0.14
R6459:Ston1 UTSW 17 88,943,896 (GRCm39) missense probably benign 0.16
R7012:Ston1 UTSW 17 88,943,413 (GRCm39) missense probably damaging 1.00
R7466:Ston1 UTSW 17 88,943,329 (GRCm39) missense probably benign 0.03
R7825:Ston1 UTSW 17 88,943,881 (GRCm39) missense possibly damaging 0.78
R7933:Ston1 UTSW 17 88,943,572 (GRCm39) missense probably benign 0.10
R8505:Ston1 UTSW 17 88,943,017 (GRCm39) missense probably benign 0.35
R8876:Ston1 UTSW 17 88,942,600 (GRCm39) missense probably benign
R9050:Ston1 UTSW 17 88,944,228 (GRCm39) missense probably benign 0.00
R9429:Ston1 UTSW 17 88,943,034 (GRCm39) missense probably benign
R9798:Ston1 UTSW 17 88,944,472 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCATGTATCGTTACCCAGTAGCCAC -3'
(R):5'- TCAGCATGAAGGACCATCCAGCTC -3'

Sequencing Primer
(F):5'- CTCGGTTTTACAGAAGACGC -3'
(R):5'- AGCTCTGGGCTGACTCC -3'
Posted On 2014-04-24