Mutagenetix > Incidental Mutations

Incidental Mutation 'R7618:Bin2'

589024

Institutional Source

Beutler Lab

Gene Symbol

Bin2

Ensembl Gene

ENSMUSG00000098112

Gene Name

bridging integrator 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100641077-100669553 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100645013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 430 (R430W)

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

probably benign
Transcript: ENSMUST00000182068

SMART Domains

Protein: ENSMUSP00000138316
Gene: ENSMUSG00000098112

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

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 damaging
Transcript: ENSMUST00000182775
AA Change: R398W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138673
Gene: ENSMUSG00000098112
AA Change: R398W

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: R403W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138158
Gene: ENSMUSG00000098112
AA Change: R403W

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

probably damaging
Transcript: ENSMUST00000183211
AA Change: R430W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138523
Gene: ENSMUSG00000098112
AA Change: R430W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,584,550	C602W	possibly damaging	Het
4930432K21Rik	A	G	8: 84,166,870	Q222R	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Ankrd60	T	C	2: 173,571,041		probably null	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Fam124b	G	A	1: 80,213,837		probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Phf12	A	G	11: 78,026,134	N272S	unknown	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	probably benign	Het

Other mutations in Bin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4852:Bin2	UTSW	15	100645288	missense	probably damaging	0.96
R5150:Bin2	UTSW	15	100645363	missense	probably damaging	0.96
R5236:Bin2	UTSW	15	100662534	missense	probably damaging	1.00
R5418:Bin2	UTSW	15	100649146	missense	probably damaging	1.00
R5502:Bin2	UTSW	15	100645405	missense	probably benign	0.02
R5993:Bin2	UTSW	15	100645020	frame shift	probably null
R6082:Bin2	UTSW	15	100645148	missense	possibly damaging	0.73
R6550:Bin2	UTSW	15	100645477	missense	probably benign	0.41
R6650:Bin2	UTSW	15	100669420	missense	probably damaging	1.00
R6665:Bin2	UTSW	15	100656795	missense	probably damaging	1.00
R9169:Bin2	UTSW	15	100656750	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GCTCTTCTGGGCCTGAACTT -3'
(R):5'- CGGATGAAGCCCAGTCAGAA -3'

Sequencing Primer
(F):5'- TCTGGGCCTGAACTTCCAGC -3'
(R):5'- GAAGAGCCTCTACCAGCCTG -3'

Posted On

2019-10-24