Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Bin1'

155983

Institutional Source

Beutler Lab

Gene Symbol

Bin1

Ensembl Gene

ENSMUSG00000024381

Gene Name

bridging integrator 1

Synonyms

Amphiphysin 2, Amphl

MMRRC Submission

039434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1370 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

32510283-32568790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32562756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 416 (I416V)

Ref Sequence

ENSEMBL: ENSMUSP00000025239 (fasta)

Gene Model

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

AlphaFold

O08539

Predicted Effect

probably benign
Transcript: ENSMUST00000025239
AA Change: I416V

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: I416V

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

Meta Mutation Damage Score

0.0769

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Adgra3	T	C	5: 50,118,129 (GRCm39)	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,717,798 (GRCm39)		probably null	Het
Afap1	A	G	5: 36,092,944 (GRCm39)	D16G	unknown	Het
AI593442	T	C	9: 52,589,308 (GRCm39)	K90E	probably damaging	Het
Aicda	A	T	6: 122,538,144 (GRCm39)	N101Y	probably benign	Het
Alx1	A	G	10: 102,864,353 (GRCm39)	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
Bptf	A	T	11: 106,937,920 (GRCm39)	S2724T	probably damaging	Het
Brf1	A	T	12: 112,924,728 (GRCm39)		probably null	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cdan1	A	G	2: 120,549,620 (GRCm39)		probably null	Het
Chaf1a	A	T	17: 56,371,032 (GRCm39)	H639L	probably benign	Het
Chd1	G	A	17: 17,607,742 (GRCm39)	G430D	probably benign	Het
Ciao3	A	G	17: 25,995,962 (GRCm39)	E62G	probably benign	Het
Clca3a2	T	C	3: 144,519,624 (GRCm39)		probably benign	Het
Clptm1	A	G	7: 19,367,797 (GRCm39)	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,521,451 (GRCm39)	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,729,747 (GRCm39)	I783N	probably damaging	Het
Dock10	A	G	1: 80,518,060 (GRCm39)	S1305P	probably damaging	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Gbp8	C	T	5: 105,164,442 (GRCm39)	A394T	possibly damaging	Het
H1f10	A	G	6: 87,958,133 (GRCm39)	I69T	probably damaging	Het
Herc2	T	A	7: 55,818,621 (GRCm39)	C2771S	probably benign	Het
Ism1	A	T	2: 139,573,994 (GRCm39)	I115F	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Klk1b11	A	G	7: 43,426,331 (GRCm39)	I22V	probably benign	Het
Krt6b	T	C	15: 101,585,987 (GRCm39)	D362G	probably damaging	Het
Lce1e	A	G	3: 92,615,150 (GRCm39)	S66P	unknown	Het
Letm1	A	T	5: 33,936,026 (GRCm39)		probably null	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mrpl12	A	G	11: 120,376,127 (GRCm39)	S46G	probably benign	Het
Ndrg3	T	C	2: 156,780,570 (GRCm39)	E198G	probably damaging	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,705,737 (GRCm39)	I521T	probably benign	Het
Pdzph1	T	C	17: 59,281,082 (GRCm39)	D400G	possibly damaging	Het
Per2	A	T	1: 91,373,279 (GRCm39)	S170T	possibly damaging	Het
Pramel25	T	A	4: 143,521,874 (GRCm39)	L497I	possibly damaging	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rerg	A	T	6: 137,034,799 (GRCm39)		probably benign	Het
Sel1l3	G	T	5: 53,357,559 (GRCm39)	H144Q	possibly damaging	Het
Septin2	G	T	1: 93,426,828 (GRCm39)	V146L	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Sh3bp4	A	T	1: 89,071,494 (GRCm39)	Y114F	probably benign	Het
Slc44a5	C	A	3: 153,948,796 (GRCm39)	T188K	probably benign	Het
Slco6d1	A	C	1: 98,350,819 (GRCm39)	I100L	probably benign	Het
Slfn4	G	T	11: 83,079,632 (GRCm39)	D441Y	probably damaging	Het
Smg1	T	C	7: 117,758,975 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,907,086 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Stard9	T	C	2: 120,527,958 (GRCm39)	V1405A	probably benign	Het
Syt1	A	G	10: 108,526,783 (GRCm39)	L42P	probably damaging	Het
Tarbp1	T	C	8: 127,175,069 (GRCm39)	D789G	probably benign	Het
Tbcel	A	T	9: 42,361,358 (GRCm39)	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,695,490 (GRCm39)		probably benign	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,675,104 (GRCm39)		probably benign	Het
Tsga10	G	T	1: 37,874,534 (GRCm39)	T117K	probably damaging	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Ttn	G	T	2: 76,677,495 (GRCm39)		probably benign	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		probably benign	Het
Zbtb37	C	T	1: 160,859,592 (GRCm39)	E238K	probably benign	Het
Zfp354c	A	G	11: 50,706,667 (GRCm39)	I136T	probably benign	Het
Zfp384	G	A	6: 125,013,416 (GRCm39)	A479T	probably benign	Het
Zfp646	T	A	7: 127,479,036 (GRCm39)	N404K	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
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
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'- GCTTGACTTCCTTCGGATGGAGAAC -3'
(R):5'- TGAGCTACCAAGGAGCCCCATTAC -3'

Sequencing Primer
(F):5'- GGGCACATGTCATAACCTCTG -3'
(R):5'- TTACCAAGGTCCTGATAACGAG -3'

Posted On

2014-02-11