Mutagenetix > Incidental Mutation

Incidental Mutation 'R6550:Bin2'

521541

Institutional Source

Beutler Lab

Gene Symbol

Bin2

Ensembl Gene

ENSMUSG00000098112

Gene Name

bridging integrator 2

Synonyms

MMRRC Submission

044675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100538963-100567384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100543358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 243 (V243A)

Ref Sequence

ENSEMBL: ENSMUSP00000138673 (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: V103A

SMART Domains

Protein: ENSMUSP00000138316
Gene: ENSMUSG00000098112
AA Change: V103A

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

unknown
Transcript: ENSMUST00000182574
AA Change: V185A

SMART Domains

Protein: ENSMUSP00000138102
Gene: ENSMUSG00000098112
AA Change: V185A

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: V243A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138673
Gene: ENSMUSG00000098112
AA Change: V243A

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 benign
Transcript: ENSMUST00000182814
AA Change: V248A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138158
Gene: ENSMUSG00000098112
AA Change: V248A

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 benign
Transcript: ENSMUST00000183211
AA Change: V275A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138523
Gene: ENSMUSG00000098112
AA Change: V275A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	A	G	2: 22,748,245 (GRCm39)	D355G	probably damaging	Het
Asz1	T	C	6: 18,051,380 (GRCm39)	D433G	probably damaging	Het
Atl3	A	G	19: 7,499,503 (GRCm39)	T256A	probably benign	Het
Atp8b4	T	A	2: 126,266,113 (GRCm39)	T183S	probably damaging	Het
Bahcc1	C	T	11: 120,167,477 (GRCm39)	H1293Y	possibly damaging	Het
Camta1	A	C	4: 151,222,832 (GRCm39)	F908L	probably damaging	Het
Cbx2	T	C	11: 118,919,851 (GRCm39)	V472A	possibly damaging	Het
Cd22	T	C	7: 30,576,977 (GRCm39)	D110G	probably benign	Het
Cfap69	A	T	5: 5,631,220 (GRCm39)	D764E	probably benign	Het
Col2a1	A	G	15: 97,874,674 (GRCm39)	I1321T	unknown	Het
Cyp2c67	G	T	19: 39,605,854 (GRCm39)	Y347*	probably null	Het
D630044L22Rik	A	T	17: 26,180,628 (GRCm39)	R66S	possibly damaging	Het
Defa27	A	C	8: 21,806,340 (GRCm39)	R46S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,886 (GRCm39)	M58V	probably benign	Het
Efhb	G	T	17: 53,728,968 (GRCm39)	H574N	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin1	A	T	19: 44,025,602 (GRCm39)		probably null	Het
Gm10912	C	T	2: 103,896,996 (GRCm39)	T45I	possibly damaging	Het
Hsh2d	C	A	8: 72,952,297 (GRCm39)	T156K	probably benign	Het
Lrrc49	G	T	9: 60,584,430 (GRCm39)	Q139K	probably benign	Het
Map3k21	A	G	8: 126,664,031 (GRCm39)	S531G	probably damaging	Het
Mcm2	A	G	6: 88,863,941 (GRCm39)		probably null	Het
Mtarc2	C	A	1: 184,551,539 (GRCm39)	R299L	probably damaging	Het
Myo9a	T	C	9: 59,775,482 (GRCm39)	F1031S	probably damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2n1d	C	T	17: 38,646,896 (GRCm39)	P283S	possibly damaging	Het
Pmfbp1	T	C	8: 110,246,839 (GRCm39)	V237A	possibly damaging	Het
Polrmt	C	A	10: 79,575,514 (GRCm39)	Q672H	probably damaging	Het
Pp2d1	T	C	17: 53,822,604 (GRCm39)	D154G	probably damaging	Het
Rars1	T	C	11: 35,724,010 (GRCm39)	I57V	probably benign	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Slc8b1	A	G	5: 120,662,082 (GRCm39)	E257G	probably damaging	Het
Spata31e3	G	A	13: 50,399,482 (GRCm39)	P948L	probably benign	Het
Tasor2	A	G	13: 3,640,519 (GRCm39)	V206A	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem87b	T	A	2: 128,666,385 (GRCm39)	H77Q	possibly damaging	Het
Tpr	C	T	1: 150,299,728 (GRCm39)	L1200F	probably damaging	Het
Trir	G	T	8: 85,756,549 (GRCm39)	V154L	probably damaging	Het
Wdfy3	A	G	5: 102,101,032 (GRCm39)	V195A	probably benign	Het
Zdhhc5	T	C	2: 84,526,685 (GRCm39)	I96V	probably benign	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
R5150:Bin2	UTSW	15	100,543,244 (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
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'- CTCTGACGAGCTTGTTTCTGAC -3'
(R):5'- CAAGCTTACCTAACAGTTGTACC -3'

Sequencing Primer
(F):5'- TGACTGGGCTTCATCCGC -3'
(R):5'- GTTGTACCCACTCTATAAACGCC -3'

Posted On

2018-06-06