Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Ston1'

578816

Institutional Source

Beutler Lab

Gene Symbol

Ston1

Ensembl Gene

ENSMUSG00000033855

Gene Name

stonin 1

Synonyms

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88597684-88662586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88635901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 245 (M245K)

Ref Sequence

ENSEMBL: ENSMUSP00000131703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064035] [ENSMUST00000137138] [ENSMUST00000150023] [ENSMUST00000163588]

AlphaFold

Q8CDJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000064035
AA Change: M245K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067027
Gene: ENSMUSG00000033855
AA Change: M245K

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: ENSMUST00000137138

SMART Domains

Protein: ENSMUSP00000118522
Gene: ENSMUSG00000033855

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150023
AA Change: M245K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000122928
Gene: ENSMUSG00000033855
AA Change: M245K

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: ENSMUST00000163588
AA Change: M245K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000131703
Gene: ENSMUSG00000033855
AA Change: M245K

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741 (GRCm38)	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437 (GRCm38)		probably benign	Het
Amer3	A	G	1: 34,587,993 (GRCm38)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261 (GRCm38)		probably null	Het
Art4	G	T	6: 136,854,850 (GRCm38)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604 (GRCm38)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105 (GRCm38)	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706 (GRCm38)		probably null	Het
Cd180	A	T	13: 102,704,995 (GRCm38)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174 (GRCm38)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855 (GRCm38)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983 (GRCm38)		probably null	Het
Cfap77	G	T	2: 28,955,613 (GRCm38)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973 (GRCm38)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650 (GRCm38)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386 (GRCm38)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128 (GRCm38)	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407 (GRCm38)	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885 (GRCm38)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416 (GRCm38)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785 (GRCm38)	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331 (GRCm38)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484 (GRCm38)		probably null	Het
Ephb2	C	T	4: 136,659,065 (GRCm38)	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983 (GRCm38)	Y22C	probably benign	Het
F5	C	T	1: 164,193,328 (GRCm38)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471 (GRCm38)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432 (GRCm38)	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569 (GRCm38)	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207 (GRCm38)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779 (GRCm38)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616 (GRCm38)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849 (GRCm38)	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420 (GRCm38)		probably benign	Het
Ippk	T	C	13: 49,432,467 (GRCm38)		probably null	Het
Klc4	T	A	17: 46,639,910 (GRCm38)	I258F	probably benign	Het
Manba	C	A	3: 135,542,393 (GRCm38)	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789 (GRCm38)	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892 (GRCm38)	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986 (GRCm38)	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220 (GRCm38)	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147 (GRCm38)	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396 (GRCm38)	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316 (GRCm38)	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380 (GRCm38)	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922 (GRCm38)	C182*	probably null	Het
Pam	A	T	1: 97,842,247 (GRCm38)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884 (GRCm38)	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468 (GRCm38)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157 (GRCm38)	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438 (GRCm38)	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844 (GRCm38)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602 (GRCm38)	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467 (GRCm38)	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057 (GRCm38)	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008 (GRCm38)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484 (GRCm38)		probably null	Het
Rfc1	A	T	5: 65,275,426 (GRCm38)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957 (GRCm38)	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167 (GRCm38)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266 (GRCm38)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404 (GRCm38)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502 (GRCm38)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239 (GRCm38)	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346 (GRCm38)	L1096P	probably damaging	Het
Swap70	T	A	7: 110,274,772 (GRCm38)	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186 (GRCm38)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563 (GRCm38)	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758 (GRCm38)	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885 (GRCm38)	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477 (GRCm38)	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480 (GRCm38)	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582 (GRCm38)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511 (GRCm38)	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773 (GRCm38)	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618 (GRCm38)	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484 (GRCm38)		probably null	Het
Zfp503	T	C	14: 21,986,011 (GRCm38)	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762 (GRCm38)	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807 (GRCm38)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531 (GRCm38)	V459A	probably damaging	Het

Other mutations in Ston1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Ston1	APN	17	88,644,443 (GRCm38)	missense	probably benign	0.00
IGL01593:Ston1	APN	17	88,637,010 (GRCm38)	missense	probably null	1.00
BB010:Ston1	UTSW	17	88,636,144 (GRCm38)	missense	probably benign	0.10
BB020:Ston1	UTSW	17	88,636,144 (GRCm38)	missense	probably benign	0.10
FR4449:Ston1	UTSW	17	88,635,525 (GRCm38)	missense	probably benign	0.38
R0610:Ston1	UTSW	17	88,635,281 (GRCm38)	missense	possibly damaging	0.49
R1421:Ston1	UTSW	17	88,635,793 (GRCm38)	missense	probably benign	0.02
R1620:Ston1	UTSW	17	88,635,816 (GRCm38)	missense	probably benign	0.01
R2002:Ston1	UTSW	17	88,635,529 (GRCm38)	missense	probably benign	0.01
R3108:Ston1	UTSW	17	88,636,155 (GRCm38)	nonsense	probably null
R3766:Ston1	UTSW	17	88,635,360 (GRCm38)	missense	probably damaging	1.00
R4222:Ston1	UTSW	17	88,636,771 (GRCm38)	missense	probably damaging	1.00
R4335:Ston1	UTSW	17	88,635,697 (GRCm38)	missense	probably damaging	1.00
R4355:Ston1	UTSW	17	88,637,008 (GRCm38)	missense	probably damaging	1.00
R4867:Ston1	UTSW	17	88,635,694 (GRCm38)	missense	probably damaging	1.00
R4902:Ston1	UTSW	17	88,645,252 (GRCm38)	missense	probably damaging	0.99
R5084:Ston1	UTSW	17	88,636,574 (GRCm38)	missense	probably benign	0.00
R5434:Ston1	UTSW	17	88,645,311 (GRCm38)	utr 3 prime	probably benign
R5700:Ston1	UTSW	17	88,644,339 (GRCm38)	missense	probably damaging	1.00
R5858:Ston1	UTSW	17	88,635,631 (GRCm38)	missense	possibly damaging	0.93
R5863:Ston1	UTSW	17	88,635,945 (GRCm38)	missense	possibly damaging	0.64
R6458:Ston1	UTSW	17	88,635,303 (GRCm38)	missense	probably benign	0.14
R6459:Ston1	UTSW	17	88,636,468 (GRCm38)	missense	probably benign	0.16
R7012:Ston1	UTSW	17	88,635,985 (GRCm38)	missense	probably damaging	1.00
R7825:Ston1	UTSW	17	88,636,453 (GRCm38)	missense	possibly damaging	0.78
R7933:Ston1	UTSW	17	88,636,144 (GRCm38)	missense	probably benign	0.10
R8505:Ston1	UTSW	17	88,635,589 (GRCm38)	missense	probably benign	0.35
R8876:Ston1	UTSW	17	88,635,172 (GRCm38)	missense	probably benign
R9050:Ston1	UTSW	17	88,636,800 (GRCm38)	missense	probably benign	0.00
R9429:Ston1	UTSW	17	88,635,606 (GRCm38)	missense	probably benign
R9798:Ston1	UTSW	17	88,637,044 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGACCATTGTGCTTTCTCC -3'
(R):5'- TAGTACATCTGCAGAATCCCTCC -3'

Sequencing Primer
(F):5'- AAGATGAAGGTAGCGCTTCCCC -3'
(R):5'- GGAATCCTCAGCATGAAG -3'

Posted On

2019-10-07