Mutagenetix > Incidental Mutation

Incidental Mutation 'R6304:Bin3'

509212

Institutional Source

Beutler Lab

Gene Symbol

Bin3

Ensembl Gene

ENSMUSG00000022089

Gene Name

bridging integrator 3

Synonyms

1700015F07Rik

MMRRC Submission

044380-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R6304 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70337538-70375413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70374625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 218 (D218G)

Ref Sequence

ENSEMBL: ENSMUSP00000022680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]

AlphaFold

Q9JI08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022680
AA Change: D218G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: D218G

Domain	Start	End	E-Value	Type
BAR	5	225	2.05e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035612

SMART Domains

Protein: ENSMUSP00000036924
Gene: ENSMUSG00000033712

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:S1-like	55	112	1.3e-29	PFAM
DBC1	339	462	8.48e-73	SMART
low complexity region	496	507	N/A	INTRINSIC
low complexity region	534	545	N/A	INTRINSIC
low complexity region	563	601	N/A	INTRINSIC
low complexity region	627	640	N/A	INTRINSIC
low complexity region	647	660	N/A	INTRINSIC
SCOP:d2mysb_	703	747	2e-3	SMART
Blast:HDc	704	758	7e-7	BLAST
coiled coil region	828	898	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228049

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop juvenile cataracts characterized by defects in cytoskeletal filamentous actin organization, show a higher incidence of spontaneous lymphomas during aging, and display a greater sensitivity to lung adenocarcinoma formation in response to radiation or carcinogen treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Cbll1	A	G	12: 31,544,588 (GRCm39)		probably null	Het
Cped1	A	T	6: 22,016,922 (GRCm39)	R90S	probably benign	Het
Csmd1	A	T	8: 16,108,688 (GRCm39)	L1905Q	probably damaging	Het
Dnai4	T	C	4: 102,944,553 (GRCm39)	E266G	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
G6pc1	A	G	11: 101,258,735 (GRCm39)	D38G	probably damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Igsf9b	C	T	9: 27,253,871 (GRCm39)	R1354W	probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kcnh7	A	T	2: 62,594,960 (GRCm39)	Y703*	probably null	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Kdm6b	G	T	11: 69,295,084 (GRCm39)	T1061K	unknown	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lpar1	T	C	4: 58,487,013 (GRCm39)	Y86C	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Miip	T	C	4: 147,947,540 (GRCm39)	M207V	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Osbpl3	A	G	6: 50,289,654 (GRCm39)	S604P	probably damaging	Het
Pcdhb6	C	T	18: 37,468,974 (GRCm39)	R632*	probably null	Het
Pcdhb9	T	A	18: 37,534,420 (GRCm39)	V138E	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Pomt1	T	A	2: 32,140,802 (GRCm39)	L478Q	probably damaging	Het
Robo2	T	A	16: 73,755,196 (GRCm39)	Y779F	probably damaging	Het
Sesn3	A	T	9: 14,233,857 (GRCm39)		probably null	Het
Sh3gl1	A	T	17: 56,343,431 (GRCm39)	F10Y	probably benign	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spsb1	C	T	4: 149,991,188 (GRCm39)	V127I	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Ttn	G	T	2: 76,746,079 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,721,443 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Vmn2r51	T	C	7: 9,832,164 (GRCm39)	Q474R	probably benign	Het

Other mutations in Bin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Bin3	APN	14	70,372,275 (GRCm39)	missense	possibly damaging	0.67
IGL02311:Bin3	APN	14	70,361,666 (GRCm39)	missense	probably benign	0.00
IGL02871:Bin3	APN	14	70,366,354 (GRCm39)	nonsense	probably null
R0504:Bin3	UTSW	14	70,361,336 (GRCm39)	splice site	probably null
R1564:Bin3	UTSW	14	70,372,218 (GRCm39)	missense	probably damaging	0.97
R2012:Bin3	UTSW	14	70,372,222 (GRCm39)	missense	probably damaging	1.00
R4328:Bin3	UTSW	14	70,356,054 (GRCm39)	missense	probably benign	0.03
R4711:Bin3	UTSW	14	70,366,288 (GRCm39)	splice site	probably null
R4857:Bin3	UTSW	14	70,366,344 (GRCm39)	missense	probably benign	0.29
R5318:Bin3	UTSW	14	70,371,961 (GRCm39)	missense	possibly damaging	0.89
R6269:Bin3	UTSW	14	70,374,611 (GRCm39)	missense	probably benign
R6303:Bin3	UTSW	14	70,374,625 (GRCm39)	missense	possibly damaging	0.90
R6345:Bin3	UTSW	14	70,374,676 (GRCm39)	missense	probably benign
R7365:Bin3	UTSW	14	70,371,976 (GRCm39)	missense	probably damaging	1.00
R8429:Bin3	UTSW	14	70,374,598 (GRCm39)	missense	probably damaging	1.00
R8804:Bin3	UTSW	14	70,361,296 (GRCm39)	missense	probably damaging	1.00
R9670:Bin3	UTSW	14	70,367,009 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTAGACTGCTGAGGGATAGATAG -3'
(R):5'- CATGAATCCATGCCCGCTAG -3'

Sequencing Primer
(F):5'- TCTAAGAGGCAGTGATGGAAC -3'
(R):5'- CCGCTAGGAGCAAAGCCTATAG -3'

Posted On

2018-04-02