Mutagenetix > Incidental Mutation

Incidental Mutation 'R9169:Bin1'

696311

Institutional Source

Beutler Lab

Gene Symbol

Bin1

Ensembl Gene

ENSMUSG00000024381

Gene Name

bridging integrator 1

Synonyms

Amphiphysin 2, Amphl

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32510283-32568790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 32562251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 379 (F379L)

Ref Sequence

ENSEMBL: ENSMUSP00000025239 (fasta)

Gene Model

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

AlphaFold

O08539

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025239
AA Change: F379L

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025239
Gene: ENSMUSG00000024381
AA Change: F379L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	T	7: 41,261,109 (GRCm39)		probably benign	Het
9330182O14Rik	A	T	15: 40,005,632 (GRCm39)	K17*	probably null	Het
Adamtsl3	A	C	7: 82,223,188 (GRCm39)	I990L	probably damaging	Het
Add1	T	A	5: 34,788,122 (GRCm39)	S724T	possibly damaging	Het
Afdn	A	G	17: 14,072,627 (GRCm39)	N865S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ap1m2	T	A	9: 21,223,523 (GRCm39)	I8F	probably benign	Het
Atp8a1	T	C	5: 67,824,944 (GRCm39)	T811A		Het
Axin2	A	G	11: 108,822,378 (GRCm39)	D310G	probably damaging	Het
Bin2	C	A	15: 100,554,631 (GRCm39)	S91I	possibly damaging	Het
Birc5	A	G	11: 117,743,599 (GRCm39)	N111S	probably benign	Het
Blk	T	A	14: 63,620,130 (GRCm39)	N137Y	probably damaging	Het
Cacna1d	G	A	14: 29,796,873 (GRCm39)	A1534V	probably damaging	Het
Cacna2d1	T	C	5: 16,451,757 (GRCm39)	V207A	probably damaging	Het
Ccr3	A	G	9: 123,828,949 (GRCm39)	I95V	probably benign	Het
Celsr2	T	C	3: 108,309,862 (GRCm39)	D1579G	probably benign	Het
Cfap36	C	A	11: 29,196,541 (GRCm39)	K19N	probably benign	Het
Cfap52	C	T	11: 67,844,860 (GRCm39)	V70M	possibly damaging	Het
Chid1	A	T	7: 141,093,722 (GRCm39)	I298N	probably damaging	Het
Clstn1	G	T	4: 149,731,322 (GRCm39)	R888L	possibly damaging	Het
Col6a5	T	A	9: 105,822,596 (GRCm39)	T254S	unknown	Het
Coro6	C	T	11: 77,359,329 (GRCm39)	P301S	probably damaging	Het
Cstdc2	A	G	2: 148,692,589 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,422,114 (GRCm39)	D102G	probably damaging	Het
Dnah14	T	C	1: 181,433,381 (GRCm39)	F353L	probably benign	Het
Dnajc10	A	T	2: 80,163,315 (GRCm39)	I344L	probably benign	Het
Dst	T	C	1: 34,303,652 (GRCm39)	V4026A	probably damaging	Het
Exo1	A	G	1: 175,715,203 (GRCm39)	E114G	possibly damaging	Het
Fabp7	A	G	10: 57,662,439 (GRCm39)	I109V	probably benign	Het
Fars2	T	C	13: 36,416,109 (GRCm39)	F206S	probably damaging	Het
Gbp8	C	T	5: 105,179,155 (GRCm39)	A115T	possibly damaging	Het
Gm17067	T	C	7: 42,357,627 (GRCm39)	T292A	probably benign	Het
Gp2	T	C	7: 119,041,929 (GRCm39)	D532G	probably benign	Het
Gtf2i	C	A	5: 134,271,534 (GRCm39)	A917S	probably damaging	Het
Guca1b	A	G	17: 47,702,827 (GRCm39)	E169G	possibly damaging	Het
Hdac1	A	T	4: 129,428,499 (GRCm39)	Y24N	probably damaging	Het
Hepacam	T	C	9: 37,293,693 (GRCm39)	F251L	probably damaging	Het
Hmcn1	G	T	1: 150,506,092 (GRCm39)	N3811K	probably damaging	Het
Htra4	A	T	8: 25,520,133 (GRCm39)	M391K	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Ints1	T	G	5: 139,748,586 (GRCm39)	T1074P	probably benign	Het
Itga6	A	T	2: 71,647,015 (GRCm39)	Q75L	possibly damaging	Het
Mapk14	A	C	17: 28,960,814 (GRCm39)	N272T	probably benign	Het
Meikin	A	T	11: 54,285,517 (GRCm39)	T185S	possibly damaging	Het
Moxd2	C	T	6: 40,860,490 (GRCm39)	G318D	possibly damaging	Het
Mtmr3	G	A	11: 4,437,739 (GRCm39)	T905I	probably benign	Het
Muc16	A	G	9: 18,567,824 (GRCm39)	I1565T	unknown	Het
Myh14	A	G	7: 44,271,281 (GRCm39)	S1500P	possibly damaging	Het
Nfkb1	T	C	3: 135,310,874 (GRCm39)	E475G	probably benign	Het
Ngef	C	A	1: 87,473,581 (GRCm39)	R67L	probably benign	Het
Olr1	T	C	6: 129,470,528 (GRCm39)	E213G	probably damaging	Het
Or13c3	T	A	4: 52,856,052 (GRCm39)	I154F	probably damaging	Het
Or5b124	A	G	19: 13,610,903 (GRCm39)	I143V	probably benign	Het
Or8g21	A	G	9: 38,906,573 (GRCm39)	S53P	probably benign	Het
Or9r3	A	C	10: 129,947,723 (GRCm39)	I312R	probably benign	Het
Pcdhga3	C	T	18: 37,809,088 (GRCm39)	L514F	probably damaging	Het
Pcnt	A	G	10: 76,221,572 (GRCm39)	M2018T	possibly damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3ca	T	C	3: 32,503,755 (GRCm39)		probably null	Het
Psapl1	A	G	5: 36,362,880 (GRCm39)	S491G	possibly damaging	Het
Psmf1	A	T	2: 151,577,457 (GRCm39)	D73E	probably benign	Het
Ptprcap	A	G	19: 4,206,358 (GRCm39)	D147G	probably benign	Het
Ramacl	T	C	13: 67,056,063 (GRCm39)	F19L	probably damaging	Het
Rdh8	T	A	9: 20,736,935 (GRCm39)	V309E	possibly damaging	Het
Rhobtb3	T	A	13: 76,041,121 (GRCm39)	T396S	probably benign	Het
Rpa1	A	T	11: 75,200,999 (GRCm39)	L475*	probably null	Het
Rtkn	T	A	6: 83,129,190 (GRCm39)	S562T	probably damaging	Het
Saxo5	A	T	8: 3,525,967 (GRCm39)	Y40F	possibly damaging	Het
Scamp1	C	T	13: 94,389,533 (GRCm39)	D35N	probably benign	Het
Scarb1	C	T	5: 125,371,146 (GRCm39)	A309T	probably damaging	Het
Scube1	G	A	15: 83,543,298 (GRCm39)	T180M	possibly damaging	Het
Sez6	T	G	11: 77,868,473 (GRCm39)	F945V	probably damaging	Het
Sf3a1	C	T	11: 4,116,681 (GRCm39)	T124M	probably benign	Het
Smchd1	T	C	17: 71,722,659 (GRCm39)	K759E	probably damaging	Het
Sort1	C	A	3: 108,247,994 (GRCm39)	C446*	probably null	Het
Sun1	T	A	5: 139,219,273 (GRCm39)	S360T	probably benign	Het
Supv3l1	A	G	10: 62,268,238 (GRCm39)	F536L	probably damaging	Het
Taar6	A	C	10: 23,861,273 (GRCm39)	V91G	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Thoc2l	T	A	5: 104,666,348 (GRCm39)	L290H	probably damaging	Het
Tmc2	T	A	2: 130,083,516 (GRCm39)	I491N	probably damaging	Het
Trmt112	T	C	19: 6,888,187 (GRCm39)	I113T	probably damaging	Het
Ttc14	C	T	3: 33,857,071 (GRCm39)	Q183*	probably null	Het
Txndc16	T	A	14: 45,373,385 (GRCm39)	D748V	probably damaging	Het
Xkr6	A	G	14: 63,844,067 (GRCm39)	D30G	possibly damaging	Het
Zc3h14	C	T	12: 98,745,505 (GRCm39)	S498L	probably damaging	Het
Zc3h7b	A	C	15: 81,661,184 (GRCm39)	D341A	probably benign	Het
Zfp108	T	A	7: 23,960,923 (GRCm39)	C505S	probably damaging	Het
Zfp354c	A	C	11: 50,706,088 (GRCm39)	L329R	probably damaging	Het
Zfyve16	T	A	13: 92,657,871 (GRCm39)	D680V	probably damaging	Het
Znfx1	A	G	2: 166,897,185 (GRCm39)	F580L	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
R8089:Bin1	UTSW	18	32,562,236 (GRCm39)	splice site	probably null
R8342:Bin1	UTSW	18	32,546,166 (GRCm39)	missense	probably benign
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'- ATAGAGGTGATCTCATCTTGGC -3'
(R):5'- TGGTTCATACAAGCACAAGGC -3'

Sequencing Primer
(F):5'- ATCTCATCTTGGCTGGGAGGAAC -3'
(R):5'- ACAAGGCTTAGTCCTGAGGC -3'

Posted On

2022-02-07