Mutagenetix > Incidental Mutation

Incidental Mutation 'R5434:Ston1'

428234

Institutional Source

Beutler Lab

Gene Symbol

Ston1

Ensembl Gene

ENSMUSG00000033855

Gene Name

stonin 1

Synonyms

4921524J06Rik

MMRRC Submission

042999-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88905043-88955293 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 88952739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131703 (fasta)

Gene Model

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

AlphaFold

Q8CDJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000064035

SMART Domains

Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855

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

SMART Domains

Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855

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

SMART Domains

Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	G	T	9: 20,786,821 (GRCm39)	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,344,013 (GRCm39)	Y323C	probably damaging	Het
Arid5b	T	A	10: 67,932,719 (GRCm39)	H818L	possibly damaging	Het
Atg13	G	T	2: 91,515,110 (GRCm39)		probably null	Het
Bltp1	A	C	3: 36,929,665 (GRCm39)	D94A	probably damaging	Het
Bop1	T	C	15: 76,339,611 (GRCm39)	M245V	probably benign	Het
Ces2a	T	A	8: 105,464,041 (GRCm39)	F224L	probably damaging	Het
Cntnap5b	A	G	1: 99,999,926 (GRCm39)	H228R	probably benign	Het
Col9a2	A	T	4: 120,898,162 (GRCm39)	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744 (GRCm39)	T137N	probably benign	Het
Dennd4c	A	G	4: 86,729,693 (GRCm39)	N765S	probably benign	Het
Dnah12	A	G	14: 26,581,256 (GRCm39)	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,010,756 (GRCm39)	C123F	possibly damaging	Het
Flvcr1	C	A	1: 190,758,206 (GRCm39)	A29S	probably benign	Het
Frmd3	A	T	4: 74,106,033 (GRCm39)	I560F	probably damaging	Het
Galnt15	G	A	14: 31,771,800 (GRCm39)	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,006,405 (GRCm39)	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464 (GRCm39)	Y218*	probably null	Het
Hmcn2	C	A	2: 31,310,375 (GRCm39)	T3323N	probably damaging	Het
Idh1	T	A	1: 65,214,495 (GRCm39)	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,322,813 (GRCm39)		noncoding transcript	Het
Kcnj10	T	A	1: 172,197,047 (GRCm39)	V187E	probably damaging	Het
Khnyn	A	G	14: 56,124,957 (GRCm39)	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,660,880 (GRCm39)	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,500,862 (GRCm39)	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mgp	T	A	6: 136,849,772 (GRCm39)	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,448,588 (GRCm39)	H40Q	probably benign	Het
Necab3	A	G	2: 154,389,379 (GRCm39)	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,332,372 (GRCm39)	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861 (GRCm39)	R486W	probably damaging	Het
Nwd2	A	G	5: 63,964,991 (GRCm39)	K1525R	probably benign	Het
Odad2	T	C	18: 7,222,550 (GRCm39)	K573R	probably benign	Het
Pbrm1	G	T	14: 30,806,968 (GRCm39)	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,237,783 (GRCm39)	S872P	possibly damaging	Het
Retsat	A	G	6: 72,578,518 (GRCm39)	I77V	probably damaging	Het
Rpl32	A	G	6: 115,783,996 (GRCm39)	F77L	probably benign	Het
Ryr3	A	T	2: 112,624,814 (GRCm39)	V2202D	probably damaging	Het
Sars2	G	A	7: 28,449,716 (GRCm39)	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,006,263 (GRCm39)	T275N	probably benign	Het
Sf3a1	C	A	11: 4,124,041 (GRCm39)	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,025,744 (GRCm39)		probably benign	Het
St3gal3	A	G	4: 117,797,247 (GRCm39)	L332P	probably damaging	Het
Syne2	T	A	12: 76,018,649 (GRCm39)	S3383T	probably damaging	Het
Tektl1	A	T	10: 78,584,484 (GRCm39)	L346*	probably null	Het
Tnfsf14	A	G	17: 57,499,592 (GRCm39)	S87P	probably benign	Het
Trap1	T	C	16: 3,862,529 (GRCm39)	D583G	probably benign	Het
Ube3d	A	T	9: 86,309,460 (GRCm39)	I212N	possibly damaging	Het
Usp34	T	A	11: 23,362,271 (GRCm39)	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,628,387 (GRCm39)	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,767,470 (GRCm39)	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	C	T	3: 159,639,976 (GRCm39)	R536C	probably damaging	Het
Zfhx3	A	G	8: 109,519,031 (GRCm39)	D51G	probably damaging	Het

Other mutations in Ston1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1620:Ston1	UTSW	17	88,943,244 (GRCm39)	missense	probably benign	0.01
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
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'- TCGTCAGGATAAGCAGTCCAGAG -3'
(R):5'- TACCCTTCAGTCAAACTGGCC -3'

Sequencing Primer
(F):5'- TCCAGAGAGCTGCTGTCCTTG -3'
(R):5'- TCTTGCATCAGATAGCAGCG -3'

Posted On

2016-09-01