Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Bin1'

647938

Institutional Source

Beutler Lab

Gene Symbol

Bin1

Ensembl Gene

ENSMUSG00000024381

Gene Name

bridging integrator 1

Synonyms

Amphiphysin 2, Amphl

MMRRC Submission

067522-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32510283-32568790 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 32562236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025239 (fasta)

Gene Model

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,383 (GRCm39)	V768I	probably benign	Het
Abcc8	G	A	7: 45,757,780 (GRCm39)	T1323I	probably benign	Het
Adamtsl2	A	G	2: 26,994,809 (GRCm39)	M828V	probably benign	Het
Agmo	A	G	12: 37,397,306 (GRCm39)	D153G	probably benign	Het
Akap13	T	A	7: 75,260,340 (GRCm39)	V185D	possibly damaging	Het
Asic1	A	G	15: 99,595,968 (GRCm39)	N414D	probably damaging	Het
Ccar1	C	A	10: 62,626,770 (GRCm39)	M1I	probably null	Het
Cdh26	T	A	2: 178,099,370 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,532,603 (GRCm39)	D1620N		Het
Dennd4a	A	T	9: 64,756,457 (GRCm39)	N204I	probably damaging	Het
Dgkb	G	A	12: 38,234,949 (GRCm39)	S438N	probably damaging	Het
Dmxl1	T	C	18: 50,021,897 (GRCm39)	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,684,971 (GRCm39)	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,902,771 (GRCm39)	T86M	probably damaging	Het
Idua	T	A	5: 108,829,646 (GRCm39)	M503K	probably damaging	Het
Ift70b	T	C	2: 75,767,647 (GRCm39)	T369A	possibly damaging	Het
Ighm	T	C	12: 113,384,854 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,740,750 (GRCm39)	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Map3k13	T	C	16: 21,722,567 (GRCm39)	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,157,417 (GRCm39)	T350A	probably benign	Het
Nalcn	A	T	14: 123,537,372 (GRCm39)	W1175R	probably damaging	Het
Or10u4	A	T	10: 129,802,566 (GRCm39)	M1K	probably null	Het
Or5h27	T	G	16: 59,006,073 (GRCm39)	I258L	unknown	Het
Or8g26	T	A	9: 39,095,927 (GRCm39)	V148E	probably damaging	Het
Pacsin2	A	G	15: 83,263,897 (GRCm39)	I380T	probably benign	Het
Plcd1	A	C	9: 118,905,060 (GRCm39)	C214G	possibly damaging	Het
Poglut3	C	T	9: 53,307,262 (GRCm39)	A402V	probably benign	Het
Ptprm	C	A	17: 66,990,483 (GRCm39)	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,530,013 (GRCm39)	Q64*	probably null	Het
Rasa2	G	T	9: 96,435,177 (GRCm39)	H604Q	probably benign	Het
Rasal1	G	A	5: 120,809,643 (GRCm39)	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,804,056 (GRCm39)	I120L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs12	T	C	5: 35,177,692 (GRCm39)	I742T	probably damaging	Het
Scyl3	A	G	1: 163,763,996 (GRCm39)	T121A	possibly damaging	Het
Six5	T	G	7: 18,828,797 (GRCm39)	F79C	probably damaging	Het
Tbx3	G	A	5: 119,818,634 (GRCm39)	R423H	probably damaging	Het
Terf2ip	C	T	8: 112,738,424 (GRCm39)	T104M	probably benign	Het
Tmem135	A	G	7: 88,805,703 (GRCm39)	C234R	probably damaging	Het
Tnxb	C	G	17: 34,891,763 (GRCm39)	A702G	unknown	Het
Tspan1	T	C	4: 116,021,532 (GRCm39)	K83R	probably null	Het
Ttn	C	T	2: 76,728,406 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,797,373 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,194 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,803,807 (GRCm39)	T256I	probably benign	Het
Zfp831	T	A	2: 174,486,717 (GRCm39)	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,346,659 (GRCm39)	H232N	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
R5768:Bin1	UTSW	18	32,559,264 (GRCm39)	splice 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
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'- GATCTCATCTTGGCTGGGAG -3'
(R):5'- TAGTCCTGAGGCTGATGAGC -3'

Sequencing Primer
(F):5'- GTAAAAGCAAAACAAAACCAAATCTG -3'
(R):5'- CCATGGGCACTGCTGGG -3'

Posted On

2020-09-14