Mutagenetix > Incidental Mutations

Incidental Mutation 'R5509:Tbc1d2b'

431080

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

MMRRC Submission

043070-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90202027-90270804 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90218969 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 656 (E656G)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041767
AA Change: E656G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: E656G

Domain	Start	End	E-Value	Type
PH	35	141	2.66e-9	SMART
low complexity region	324	334	N/A	INTRINSIC
low complexity region	343	356	N/A	INTRINSIC
Blast:TBC	358	601	2e-25	BLAST
TBC	661	881	3.75e-60	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120385

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
Abcc10	G	C	17: 46,324,259	Q273E	probably benign	Het
Acly	C	T	11: 100,514,979	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,573,617	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,681,357	I515N	probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,639,937	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,114,576	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,840,316	W496R	probably damaging	Het
Cflar	T	C	1: 58,752,392	F285L	probably benign	Het
Cox16	T	C	12: 81,472,258	T176A	probably benign	Het
Cux1	G	T	5: 136,275,317	A1214D	probably benign	Het
Cyb5d1	C	A	11: 69,393,735		probably null	Het
Dennd6b	G	A	15: 89,185,022	P575S	probably damaging	Het
Fbxl2	A	T	9: 113,985,347		probably null	Het
Gfpt2	T	C	11: 49,827,146	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,445,022	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337	V281M	probably damaging	Het
Kif13a	G	A	13: 46,752,115	A784V	probably benign	Het
Kmt2d	T	C	15: 98,839,676		probably benign	Het
Lmod2	A	G	6: 24,603,889	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,500,535	K1355E	probably benign	Het
Magi3	A	T	3: 104,015,502	S1300T	probably benign	Het
Mdm2	A	C	10: 117,690,612	D307E	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,606,154	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,253,807		probably null	Het
Mug2	A	T	6: 122,084,381	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,884,320	Q459R	probably benign	Het
Nle1	T	C	11: 82,903,182	R343G	possibly damaging	Het
Npat	C	A	9: 53,570,242	N1083K	probably benign	Het
Nrp1	G	A	8: 128,425,915	G202R	possibly damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr1427	T	A	19: 12,098,977	I221F	possibly damaging	Het
Olfr1472	A	T	19: 13,453,968	L183Q	probably damaging	Het
Olfr32	T	A	2: 90,138,892	L82F	probably damaging	Het
Olfr935	T	C	9: 38,994,628	D269G	probably benign	Het
Podxl	A	T	6: 31,526,613	N264K	probably benign	Het
Ptprm	C	T	17: 66,689,358	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,210,784		probably null	Het
Ryr2	T	A	13: 11,745,601	Y1532F	probably damaging	Het
Senp2	T	C	16: 22,040,522	F441S	probably damaging	Het
Snap23	C	A	2: 120,594,865	P111T	probably benign	Het
Sox2	A	G	3: 34,650,789	D125G	probably damaging	Het
Syne2	T	C	12: 75,921,244	W923R	probably damaging	Het
Tbcd	A	G	11: 121,602,012	T892A	probably benign	Het
Tg	A	G	15: 66,827,293	I24V	probably benign	Het
Trpm3	A	T	19: 22,987,258	K1372N	probably damaging	Het
Ubc	A	T	5: 125,387,275	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,278,422	H409L	probably damaging	Het
Wdfy3	T	A	5: 101,861,448	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,915,401	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,779,087	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,246,521	R2027W	probably damaging	Het

Other mutations in Tbc1d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Tbc1d2b	APN	9	90226209	missense	probably benign
IGL00791:Tbc1d2b	APN	9	90227428	missense	probably benign	0.18
IGL01457:Tbc1d2b	APN	9	90205091	missense	probably damaging	1.00
IGL01535:Tbc1d2b	APN	9	90215473	splice site	probably benign
IGL02089:Tbc1d2b	APN	9	90222359	missense	possibly damaging	0.80
IGL02409:Tbc1d2b	APN	9	90222352	missense	probably benign	0.00
IGL02799:Tbc1d2b	APN	9	90223434	splice site	probably benign
IGL03198:Tbc1d2b	APN	9	90222457	missense	probably damaging	1.00
Leone	UTSW	9	90207887	missense	probably damaging	1.00
ocelot	UTSW	9	90207884	missense	probably damaging	1.00
panthera	UTSW	9	90226248	missense	probably benign
pardo	UTSW	9	90219144	missense	probably benign	0.13
pardus	UTSW	9	90219010	nonsense	probably null
roar	UTSW	9	90218922	nonsense	probably null
R0062:Tbc1d2b	UTSW	9	90222302	splice site	probably benign
R0062:Tbc1d2b	UTSW	9	90222302	splice site	probably benign
R0671:Tbc1d2b	UTSW	9	90222505	splice site	probably benign
R0682:Tbc1d2b	UTSW	9	90249862	missense	probably benign	0.01
R1074:Tbc1d2b	UTSW	9	90222340	missense	possibly damaging	0.68
R1075:Tbc1d2b	UTSW	9	90222340	missense	possibly damaging	0.68
R1140:Tbc1d2b	UTSW	9	90226376	missense	possibly damaging	0.91
R1892:Tbc1d2b	UTSW	9	90218943	missense	probably damaging	0.98
R4064:Tbc1d2b	UTSW	9	90218922	nonsense	probably null
R4541:Tbc1d2b	UTSW	9	90205169	missense	probably damaging	1.00
R4590:Tbc1d2b	UTSW	9	90270500	missense	possibly damaging	0.81
R4651:Tbc1d2b	UTSW	9	90207887	missense	probably damaging	1.00
R4652:Tbc1d2b	UTSW	9	90207887	missense	probably damaging	1.00
R4971:Tbc1d2b	UTSW	9	90218870	missense	probably benign	0.00
R5086:Tbc1d2b	UTSW	9	90227457	missense	probably benign
R5131:Tbc1d2b	UTSW	9	90209759	missense	probably damaging	1.00
R5205:Tbc1d2b	UTSW	9	90207810	missense	probably damaging	1.00
R5502:Tbc1d2b	UTSW	9	90227443	missense	probably benign
R5534:Tbc1d2b	UTSW	9	90227506	missense	possibly damaging	0.89
R5729:Tbc1d2b	UTSW	9	90207872	missense	probably benign	0.22
R5735:Tbc1d2b	UTSW	9	90222409	missense	possibly damaging	0.71
R5847:Tbc1d2b	UTSW	9	90209724	missense	probably damaging	1.00
R5928:Tbc1d2b	UTSW	9	90219144	missense	probably benign	0.13
R6595:Tbc1d2b	UTSW	9	90226092	missense	probably benign	0.02
R6766:Tbc1d2b	UTSW	9	90226209	missense	probably benign
R7563:Tbc1d2b	UTSW	9	90219010	nonsense	probably null
R7563:Tbc1d2b	UTSW	9	90226248	missense	probably benign
R8126:Tbc1d2b	UTSW	9	90222316	missense	probably benign	0.00
R8162:Tbc1d2b	UTSW	9	90207884	missense	probably damaging	1.00
X0066:Tbc1d2b	UTSW	9	90218658	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTCAGGCCTTGGCAGTAG -3'
(R):5'- TACGGGTTTAGGACTGTCCCTG -3'

Sequencing Primer
(F):5'- TGTATGCCCTCCGACGTG -3'
(R):5'- CTGTCCCTGATGATGATGAGGAAG -3'

Posted On

2016-10-05