Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Ston1'

53047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ston1

Ensembl Gene

ENSMUSG00000033855

Gene Name

stonin 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

88597684-88662586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88644443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 674 (E674G)

Ref Sequence

ENSEMBL: ENSMUSP00000131703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064035] [ENSMUST00000150023] [ENSMUST00000163588]

AlphaFold

Q8CDJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000064035
AA Change: E674G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: E674G

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000150023
AA Change: E674G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: E674G

Domain	Start	End	E-Value	Type
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: E674G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: E674G

Domain	Start	End	E-Value	Type
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Ston1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Ston1	APN	17	88637010	missense	probably null	1.00
BB010:Ston1	UTSW	17	88636144	missense	probably benign	0.10
BB020:Ston1	UTSW	17	88636144	missense	probably benign	0.10
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
R7933:Ston1	UTSW	17	88636144	missense	probably benign	0.10
R8505:Ston1	UTSW	17	88635589	missense	probably benign	0.35
R8876:Ston1	UTSW	17	88635172	missense	probably benign
R9050:Ston1	UTSW	17	88636800	missense	probably benign	0.00
R9429:Ston1	UTSW	17	88635606	missense	probably benign

Posted On

2013-06-21