Mutagenetix > Incidental Mutation

Incidental Mutation 'R5150:Bin2'

395318

Institutional Source

Beutler Lab

Gene Symbol

Bin2

Ensembl Gene

ENSMUSG00000098112

Gene Name

bridging integrator 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100538963-100567384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100543244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 313 (E313G)

Ref Sequence

ENSEMBL: ENSMUSP00000138523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182068] [ENSMUST00000182574] [ENSMUST00000182775] [ENSMUST00000182814] [ENSMUST00000183211]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000182068
AA Change: E141G

SMART Domains

Protein: ENSMUSP00000138316
Gene: ENSMUSG00000098112
AA Change: E141G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:BAR	17	98	5.8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182494

Predicted Effect

probably benign
Transcript: ENSMUST00000182574

SMART Domains

Protein: ENSMUSP00000138102
Gene: ENSMUSG00000098112

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:BAR	17	150	1.2e-25	PFAM
low complexity region	162	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182775
AA Change: E281G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138673
Gene: ENSMUSG00000098112
AA Change: E281G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
BAR	16	205	2.92e-51	SMART
low complexity region	220	270	N/A	INTRINSIC
low complexity region	292	321	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	393	409	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182814
AA Change: E286G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138158
Gene: ENSMUSG00000098112
AA Change: E286G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
BAR	16	210	3.28e-54	SMART
low complexity region	225	275	N/A	INTRINSIC
low complexity region	297	326	N/A	INTRINSIC
low complexity region	347	358	N/A	INTRINSIC
low complexity region	398	414	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183193

Predicted Effect

probably damaging
Transcript: ENSMUST00000183211
AA Change: E313G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138523
Gene: ENSMUSG00000098112
AA Change: E313G

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
BAR	16	237	2.32e-77	SMART
low complexity region	252	302	N/A	INTRINSIC
low complexity region	324	353	N/A	INTRINSIC
low complexity region	374	385	N/A	INTRINSIC
low complexity region	425	441	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183874

Meta Mutation Damage Score

0.2286

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

93% (57/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,895,117 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,988,268 (GRCm39)	V3184A	possibly damaging	Het
Aoc1	A	G	6: 48,883,084 (GRCm39)	N320S	possibly damaging	Het
Brd10	C	A	19: 29,782,950 (GRCm39)	A109S	probably damaging	Het
C9orf72	A	G	4: 35,193,270 (GRCm39)	S228P	possibly damaging	Het
Ccdc47	T	C	11: 106,096,265 (GRCm39)	D253G	possibly damaging	Het
Ccdc73	A	G	2: 104,822,384 (GRCm39)	T778A	probably benign	Het
Cops3	C	A	11: 59,710,839 (GRCm39)	D377Y	probably damaging	Het
Cyp4a14	A	C	4: 115,350,806 (GRCm39)	V156G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Disp1	C	A	1: 182,871,063 (GRCm39)	M452I	probably damaging	Het
Fam210b	T	C	2: 172,193,468 (GRCm39)	Y94H	probably damaging	Het
Fbxo45	C	A	16: 32,065,524 (GRCm39)		probably benign	Het
Flrt2	T	A	12: 95,745,977 (GRCm39)	M105K	possibly damaging	Het
Gm26558	G	A	2: 70,491,656 (GRCm39)		probably benign	Het
Gpr83	T	G	9: 14,772,101 (GRCm39)	L91R	probably damaging	Het
Greb1l	TTTAATAACTT	TTT	18: 10,555,950 (GRCm39)		probably null	Het
Hmces	T	A	6: 87,910,217 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ksr2	A	C	5: 117,693,074 (GRCm39)	E174A	probably damaging	Het
Lats1	A	G	10: 7,588,415 (GRCm39)	T1011A	probably benign	Het
Lrrc46	T	C	11: 96,926,957 (GRCm39)	D120G	probably damaging	Het
Ncstn	C	A	1: 171,895,151 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,059,130 (GRCm39)	T6118A	probably benign	Het
Nipsnap2	A	C	5: 129,834,175 (GRCm39)	M272L	probably benign	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or13c7c	A	G	4: 43,836,301 (GRCm39)	L63P	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or4f15	T	A	2: 111,814,366 (GRCm39)	T18S	probably benign	Het
Or4f61	T	A	2: 111,922,880 (GRCm39)	L55F	possibly damaging	Het
Or4g17	T	A	2: 111,209,598 (GRCm39)	D84E	probably damaging	Het
Or5b118	A	T	19: 13,448,794 (GRCm39)	Q153H	probably benign	Het
Pold1	A	G	7: 44,185,256 (GRCm39)	V750A	possibly damaging	Het
Prdm11	C	T	2: 92,805,817 (GRCm39)	E378K	probably damaging	Het
Ptpn9	A	G	9: 56,943,954 (GRCm39)	D276G	probably benign	Het
Rlf	A	T	4: 121,005,369 (GRCm39)	F1204I	probably damaging	Het
Robo1	C	A	16: 72,769,192 (GRCm39)	T537K	possibly damaging	Het
Sec31b	T	A	19: 44,508,970 (GRCm39)	M670L	probably benign	Het
Sephs1	T	A	2: 4,904,321 (GRCm39)	V233E	possibly damaging	Het
Serpinb2	T	C	1: 107,450,939 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,550,008 (GRCm39)	Q670R	possibly damaging	Het
Slc8a2	A	C	7: 15,879,101 (GRCm39)	D529A	possibly damaging	Het
Sva	A	G	6: 42,019,093 (GRCm39)	N88D	probably benign	Het
Tcf15	G	T	2: 151,986,051 (GRCm39)	R169L	probably damaging	Het
Tfr2	A	G	5: 137,572,752 (GRCm39)	T188A	probably benign	Het
Tshz1	T	A	18: 84,031,340 (GRCm39)	K1023*	probably null	Het
Ttc28	A	G	5: 111,373,555 (GRCm39)	N966S	probably damaging	Het
Unc5c	T	A	3: 141,463,554 (GRCm39)	I225N	probably damaging	Het
Ush2a	T	C	1: 188,184,067 (GRCm39)	L1457S	possibly damaging	Het
Zbtb34	G	T	2: 33,301,133 (GRCm39)	H469Q	probably damaging	Het
Zfp692	T	C	11: 58,198,413 (GRCm39)	M1T	probably null	Het

Other mutations in Bin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4852:Bin2	UTSW	15	100,543,169 (GRCm39)	missense	probably damaging	0.96
R5236:Bin2	UTSW	15	100,560,415 (GRCm39)	missense	probably damaging	1.00
R5418:Bin2	UTSW	15	100,547,027 (GRCm39)	missense	probably damaging	1.00
R5502:Bin2	UTSW	15	100,543,286 (GRCm39)	missense	probably benign	0.02
R5993:Bin2	UTSW	15	100,542,901 (GRCm39)	frame shift	probably null
R6082:Bin2	UTSW	15	100,543,029 (GRCm39)	missense	possibly damaging	0.73
R6550:Bin2	UTSW	15	100,543,358 (GRCm39)	missense	probably benign	0.41
R6650:Bin2	UTSW	15	100,567,301 (GRCm39)	missense	probably damaging	1.00
R6665:Bin2	UTSW	15	100,554,676 (GRCm39)	missense	probably damaging	1.00
R7618:Bin2	UTSW	15	100,542,894 (GRCm39)	missense	probably damaging	0.99
R9169:Bin2	UTSW	15	100,554,631 (GRCm39)	missense	possibly damaging	0.79
R9573:Bin2	UTSW	15	100,560,433 (GRCm39)	missense	probably damaging	1.00
R9632:Bin2	UTSW	15	100,549,915 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GGAGTATCCTTCCCTGTCTGAC -3'
(R):5'- GTGACCCTTGTGAATTTGAATATCC -3'

Sequencing Primer
(F):5'- AGAGCTTCCTCCTGGGATC -3'
(R):5'- TTCCTTCCACAGCAGCAG -3'

Posted On

2016-06-21