Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Bin1'

168912

Institutional Source

Beutler Lab

Gene Symbol

Bin1

Ensembl Gene

ENSMUSG00000024381

Gene Name

bridging integrator 1

Synonyms

Amphiphysin 2, Amphl

MMRRC Submission

039547-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32510283-32568790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32545757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 103 (I103T)

Ref Sequence

ENSEMBL: ENSMUSP00000089590 (fasta)

Gene Model

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

AlphaFold

O08539

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025239
AA Change: I103T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: I103T

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 damaging
Transcript: ENSMUST00000091967
AA Change: I103T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089590
Gene: ENSMUSG00000024381
AA Change: I103T

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

0.2624

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,221,552 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,041,489 (GRCm39)	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,266,298 (GRCm39)	L832Q	probably damaging	Het
Acan	T	A	7: 78,750,552 (GRCm39)	H1774Q	probably benign	Het
Adss2	T	C	1: 177,599,760 (GRCm39)	T275A	probably benign	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Araf	G	T	X: 20,725,943 (GRCm39)	R522L	probably damaging	Het
Arhgef28	C	T	13: 98,102,054 (GRCm39)	V807I	possibly damaging	Het
C4b	C	T	17: 34,958,995 (GRCm39)	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,568,047 (GRCm39)	P1015S	probably benign	Het
Capn1	A	G	19: 6,057,528 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,374,828 (GRCm39)	Q1358R	probably damaging	Het
Cfap126	T	C	1: 170,953,386 (GRCm39)		probably benign	Het
Chn1	T	C	2: 73,509,951 (GRCm39)		probably benign	Het
Cldn8	T	C	16: 88,359,289 (GRCm39)	E212G	probably benign	Het
Cpb1	T	C	3: 20,317,696 (GRCm39)	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,639,412 (GRCm39)	I138F	probably benign	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,021,422 (GRCm39)	M538T	probably benign	Het
Dhrs4	T	G	14: 55,725,107 (GRCm39)	L201V	probably damaging	Het
Dnah12	C	T	14: 26,431,403 (GRCm39)	A407V	probably benign	Het
Elavl3	T	A	9: 21,937,461 (GRCm39)		probably benign	Het
Elp4	T	C	2: 105,662,506 (GRCm39)	H88R	probably benign	Het
Ercc3	T	C	18: 32,394,350 (GRCm39)		probably benign	Het
Eri1	A	G	8: 35,936,335 (GRCm39)	S329P	possibly damaging	Het
Erich2	A	T	2: 70,343,117 (GRCm39)		probably benign	Het
Esyt1	A	G	10: 128,348,297 (GRCm39)	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,557,588 (GRCm39)	E141G	probably damaging	Het
Fat1	A	G	8: 45,486,427 (GRCm39)	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,151,415 (GRCm39)	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,887,094 (GRCm39)	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,495,372 (GRCm39)	D194G	probably damaging	Het
Gpr89	A	G	3: 96,812,526 (GRCm39)	I5T	probably benign	Het
Gpx6	A	T	13: 21,503,090 (GRCm39)	H168L	probably benign	Het
Gusb	T	C	5: 130,027,385 (GRCm39)	T307A	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,477,193 (GRCm39)	D118G	probably benign	Het
Ipcef1	A	T	10: 6,885,173 (GRCm39)		probably null	Het
Kbtbd3	A	T	9: 4,330,276 (GRCm39)	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,374,880 (GRCm39)	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,213,674 (GRCm39)	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Map1lc3b	C	T	8: 122,323,339 (GRCm39)	R70C	possibly damaging	Het
Meiob	T	A	17: 25,032,026 (GRCm39)	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330 (GRCm39)	Y183*	probably null	Het
Mrs2	T	C	13: 25,189,017 (GRCm39)	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,396,387 (GRCm39)	K151R	probably benign	Het
Neb	T	G	2: 52,218,746 (GRCm39)	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,797,944 (GRCm39)	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,893,417 (GRCm39)	T122I	probably damaging	Het
Nuggc	A	T	14: 65,861,582 (GRCm39)	N476I	probably damaging	Het
Obscn	T	A	11: 58,921,862 (GRCm39)	H5978L	probably benign	Het
Oc90	G	T	15: 65,748,370 (GRCm39)	A412D	probably damaging	Het
Or2l13b	T	A	16: 19,349,133 (GRCm39)	D179V	possibly damaging	Het
Or3a4	A	G	11: 73,944,650 (GRCm39)	*312Q	probably null	Het
Or4a76	A	G	2: 89,460,358 (GRCm39)	S295P	possibly damaging	Het
Or5w18	T	G	2: 87,633,212 (GRCm39)	S160A	probably benign	Het
Or7a42	T	A	10: 78,791,682 (GRCm39)	S214R	probably benign	Het
Or8k33	A	T	2: 86,384,096 (GRCm39)	V124E	probably damaging	Het
Pdzrn3	A	T	6: 101,127,930 (GRCm39)	V912E	probably benign	Het
Phactr1	T	A	13: 43,248,466 (GRCm39)	Y387N	probably damaging	Het
Picalm	T	A	7: 89,779,859 (GRCm39)	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,891,077 (GRCm39)	I314F	possibly damaging	Het
Pold2	T	C	11: 5,824,175 (GRCm39)	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,523 (GRCm39)		probably benign	Het
Rac1	G	T	5: 143,493,093 (GRCm39)	A165E	probably damaging	Het
Rpap3	G	T	15: 97,584,364 (GRCm39)	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,357,232 (GRCm39)	T1012I	probably benign	Het
Sdad1	A	G	5: 92,457,682 (GRCm39)	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,903,127 (GRCm39)	K180T	probably damaging	Het
Sgpl1	T	C	10: 60,938,368 (GRCm39)	N475S	probably damaging	Het
Shroom3	T	C	5: 93,090,693 (GRCm39)	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,026,442 (GRCm39)	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489 (GRCm39)	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,251,997 (GRCm39)	I36V	probably benign	Het
Smarca2	C	G	19: 26,608,501 (GRCm39)	P263A	possibly damaging	Het
Sp100	T	C	1: 85,591,242 (GRCm39)		probably benign	Het
Spag6l	A	G	16: 16,598,478 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,071,498 (GRCm39)	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,245,115 (GRCm39)	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,845,719 (GRCm39)	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,668,313 (GRCm39)		probably null	Het
Tnfrsf9	T	A	4: 151,017,561 (GRCm39)		probably null	Het
Tnni3k	T	C	3: 154,645,295 (GRCm39)	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,989,934 (GRCm39)	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,780,714 (GRCm39)	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,782,071 (GRCm39)	H541P	probably damaging	Het
Zfp84	A	G	7: 29,476,039 (GRCm39)	I244V	possibly damaging	Het
Zyx	A	G	6: 42,333,246 (GRCm39)	Y393C	probably damaging	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
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
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'- GCTGCTAACTCTCTGAGGTTCCAC -3'
(R):5'- GGTCAGTGTGACAAGTACCAGAAGC -3'

Sequencing Primer
(F):5'- ACCTATCTGGCTTCTGTTAAAGG -3'
(R):5'- GTACCAGAAGCACAGACTGC -3'

Posted On

2014-04-13