Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Bin1'

462739

Institutional Source

Beutler Lab

Gene Symbol

Bin1

Ensembl Gene

ENSMUSG00000024381

Gene Name

bridging integrator 1

Synonyms

Amphiphysin 2, Amphl

MMRRC Submission

043368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32510283-32568790 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 32559264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025239] [ENSMUST00000091967]

AlphaFold

O08539

Predicted Effect

probably null
Transcript: ENSMUST00000025239

SMART Domains

Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381

Domain	Start	End	E-Value	Type
BAR	17	269	3.04e-81	SMART
low complexity region	296	305	N/A	INTRINSIC
PDB:1MV3\|A	306	378	3e-31	PDB
Blast:BAR	395	506	4e-48	BLAST
SH3	518	588	5.4e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000091967

SMART Domains

Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381

Domain	Start	End	E-Value	Type
BAR	17	238	3.92e-84	SMART
low complexity region	265	274	N/A	INTRINSIC
low complexity region	309	315	N/A	INTRINSIC
Blast:BAR	319	395	2e-8	BLAST
SH3	407	477	5.4e-13	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,177,426 (GRCm39)	T561I	probably benign	Het
Akp3	T	C	1: 87,054,844 (GRCm39)	I393T	probably damaging	Het
Atxn10	A	T	15: 85,277,621 (GRCm39)	I363F	probably benign	Het
BC004004	A	T	17: 29,501,709 (GRCm39)	S83C	probably damaging	Het
Cacna1c	A	G	6: 118,674,641 (GRCm39)	I541T	probably damaging	Het
Cand1	A	G	10: 119,046,910 (GRCm39)	V860A	probably benign	Het
Ccdc69	T	C	11: 54,945,856 (GRCm39)	N50S	possibly damaging	Het
Cd209d	T	A	8: 3,921,968 (GRCm39)	T235S	probably benign	Het
Cdhr3	G	T	12: 33,096,685 (GRCm39)	T591K	possibly damaging	Het
Cherp	C	T	8: 73,216,957 (GRCm39)	D658N	probably damaging	Het
Clip4	T	A	17: 72,113,494 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,492,242 (GRCm39)	V195M	probably damaging	Het
Cst11	A	T	2: 148,612,387 (GRCm39)	Y83*	probably null	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,412,901 (GRCm39)	L4M	probably damaging	Het
Dip2b	C	A	15: 100,055,826 (GRCm39)	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,935,660 (GRCm39)		probably null	Het
Elf5	C	T	2: 103,279,367 (GRCm39)	S196L	probably damaging	Het
Eps15	C	G	4: 109,220,373 (GRCm39)		probably null	Het
Fra10ac1	T	C	19: 38,195,734 (GRCm39)	E163G	probably benign	Het
Gc	T	C	5: 89,589,125 (GRCm39)	T213A	probably damaging	Het
Grpel1	A	T	5: 36,622,503 (GRCm39)		probably benign	Het
Gsdme	G	A	6: 50,196,280 (GRCm39)	Q377*	probably null	Het
Hira	T	C	16: 18,753,768 (GRCm39)		probably benign	Het
Hsd11b1	T	A	1: 192,922,554 (GRCm39)	I168F	probably damaging	Het
Htr6	G	A	4: 138,789,015 (GRCm39)	R347W	probably damaging	Het
Ipp	A	C	4: 116,367,967 (GRCm39)	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,886,509 (GRCm39)	R99Q	probably benign	Het
Madd	T	A	2: 90,998,174 (GRCm39)	I649F	probably damaging	Het
Map2k7	T	A	8: 4,295,757 (GRCm39)	D368E	probably benign	Het
Mppe1	T	G	18: 67,358,889 (GRCm39)	T360P	possibly damaging	Het
Msi2	A	G	11: 88,608,564 (GRCm39)	F2L	probably damaging	Het
Nectin3	T	C	16: 46,279,180 (GRCm39)	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,532,883 (GRCm39)	H691R	probably benign	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or4c117	T	C	2: 88,955,793 (GRCm39)	E94G	probably benign	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Papss2	G	A	19: 32,638,119 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,172,736 (GRCm39)	K549E	probably benign	Het
Plekha6	A	G	1: 133,208,116 (GRCm39)	T596A	probably benign	Het
Polr2f	A	G	15: 79,035,845 (GRCm39)	D117G	probably damaging	Het
Psd	T	C	19: 46,301,178 (GRCm39)	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,602,976 (GRCm39)	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649 (GRCm39)	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,583,442 (GRCm39)	M2810V	probably benign	Het
Sdk1	C	A	5: 142,129,626 (GRCm39)	L1616I	probably benign	Het
Spock2	T	A	10: 59,962,029 (GRCm39)	F215I	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tchh	A	T	3: 93,353,488 (GRCm39)	E976V	unknown	Het
Tgfbr3	T	C	5: 107,297,761 (GRCm39)	E213G	probably benign	Het
Tmed1	T	C	9: 21,420,619 (GRCm39)	D71G	probably benign	Het
Tmtc4	T	A	14: 123,170,565 (GRCm39)	K527N	possibly damaging	Het
Zfhx2	T	C	14: 55,311,822 (GRCm39)	T291A	probably benign	Het

Other mutations in Bin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Bin1	APN	18	32,553,160 (GRCm39)	missense	probably damaging	1.00
IGL00972:Bin1	APN	18	32,557,887 (GRCm39)	missense	probably benign	0.01
IGL01551:Bin1	APN	18	32,510,511 (GRCm39)	missense	probably benign	0.44
IGL01609:Bin1	APN	18	32,552,978 (GRCm39)	missense	probably damaging	1.00
R1370:Bin1	UTSW	18	32,562,756 (GRCm39)	missense	probably benign	0.05
R1496:Bin1	UTSW	18	32,545,757 (GRCm39)	missense	probably damaging	0.99
R1688:Bin1	UTSW	18	32,558,025 (GRCm39)	splice site	probably benign
R1688:Bin1	UTSW	18	32,552,988 (GRCm39)	splice site	probably benign
R2483:Bin1	UTSW	18	32,547,280 (GRCm39)	missense	probably damaging	1.00
R3941:Bin1	UTSW	18	32,539,211 (GRCm39)	missense	probably damaging	1.00
R5026:Bin1	UTSW	18	32,552,983 (GRCm39)	critical splice donor site	probably null
R6770:Bin1	UTSW	18	32,539,202 (GRCm39)	missense	probably damaging	1.00
R6906:Bin1	UTSW	18	32,554,978 (GRCm39)	missense	probably benign	0.00
R7239:Bin1	UTSW	18	32,539,224 (GRCm39)	missense	probably damaging	1.00
R7593:Bin1	UTSW	18	32,552,932 (GRCm39)	nonsense	probably null
R7885:Bin1	UTSW	18	32,552,896 (GRCm39)	missense	probably damaging	1.00
R8050:Bin1	UTSW	18	32,539,198 (GRCm39)	missense	probably damaging	1.00
R8089:Bin1	UTSW	18	32,562,236 (GRCm39)	splice site	probably null
R8342:Bin1	UTSW	18	32,546,166 (GRCm39)	missense	probably benign
R9169:Bin1	UTSW	18	32,562,251 (GRCm39)	missense	possibly damaging	0.45
R9378:Bin1	UTSW	18	32,552,921 (GRCm39)	missense	probably damaging	0.98
R9531:Bin1	UTSW	18	32,510,539 (GRCm39)	missense	probably benign	0.11
X0011:Bin1	UTSW	18	32,559,332 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTGAACCGCCTGTCTTGG -3'
(R):5'- AGACCATGCATGCTCTGAGAG -3'

Sequencing Primer
(F):5'- CGCCTGTCTTGGGGTCTC -3'
(R):5'- CATGCTCTGAGAGAAAGAGTAATATC -3'

Posted On

2017-03-01