Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Tbc1d2b'

460016

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90101197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 598 (I598V)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

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

AlphaFold

Q3U0J8

Predicted Effect

probably benign
Transcript: ENSMUST00000041767
AA Change: I598V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: I598V

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

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,537,159 (GRCm39)	I475L	probably benign	Het
Abcc2	C	T	19: 43,807,797 (GRCm39)	R813W	probably damaging	Het
Adam34	T	C	8: 44,105,067 (GRCm39)	T193A	probably benign	Het
Adgb	T	C	10: 10,254,531 (GRCm39)	D1118G	probably damaging	Het
Adprh	A	C	16: 38,267,746 (GRCm39)	S180A	probably benign	Het
Atad5	A	T	11: 79,985,003 (GRCm39)	D30V	probably damaging	Het
Best3	G	A	10: 116,843,532 (GRCm39)	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,235,595 (GRCm39)		probably benign	Het
Btc	A	T	5: 91,514,004 (GRCm39)	V86E	probably damaging	Het
Cacna2d4	G	T	6: 119,258,659 (GRCm39)	A582S	probably benign	Het
Carm1	A	G	9: 21,486,598 (GRCm39)		probably benign	Het
Catsperg1	A	T	7: 28,906,040 (GRCm39)	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,575,047 (GRCm39)	H547Q	probably benign	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cd44	C	T	2: 102,654,648 (GRCm39)	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,718,861 (GRCm39)	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,881,832 (GRCm39)	Q1122K	probably benign	Het
Cep290	A	G	10: 100,387,692 (GRCm39)	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,492,811 (GRCm39)	P512S	possibly damaging	Het
Chrdl2	A	T	7: 99,659,200 (GRCm39)		probably benign	Het
Cibar1	A	G	4: 12,171,919 (GRCm39)		probably benign	Het
Clec7a	A	T	6: 129,442,430 (GRCm39)	F199Y	probably damaging	Het
Cracd	A	C	5: 76,989,581 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,101,002 (GRCm39)	K1182E	probably benign	Het
Dnah11	G	T	12: 117,878,371 (GRCm39)		probably null	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Ecpas	A	T	4: 58,849,948 (GRCm39)	M425K	possibly damaging	Het
Egfem1	T	C	3: 29,637,077 (GRCm39)	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,138,728 (GRCm39)		probably null	Het
Exosc9	T	A	3: 36,609,774 (GRCm39)		probably benign	Het
Fbxw18	T	A	9: 109,529,149 (GRCm39)	T135S	probably damaging	Het
Fbxw21	T	C	9: 108,972,893 (GRCm39)	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,256,874 (GRCm39)	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,410,179 (GRCm39)	Q46K	probably benign	Het
Gm6741	A	G	17: 91,544,528 (GRCm39)	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,732,349 (GRCm39)	L532S	probably damaging	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Helz2	A	T	2: 180,872,177 (GRCm39)	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 65,061,122 (GRCm39)	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,474,648 (GRCm39)	D4746E	possibly damaging	Het
Il17rb	C	A	14: 29,726,232 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,653,587 (GRCm39)	I252F	probably damaging	Het
Khnyn	C	T	14: 56,123,344 (GRCm39)	R33C	probably damaging	Het
Ksr1	G	A	11: 78,950,545 (GRCm39)	P20L	probably damaging	Het
Lamc3	T	C	2: 31,811,721 (GRCm39)	Y903H	probably benign	Het
Miga2	T	C	2: 30,258,875 (GRCm39)		probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Ncoa4	T	C	14: 31,888,678 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,912,996 (GRCm39)	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,024,055 (GRCm39)	L420R	probably damaging	Het
Onecut1	A	G	9: 74,770,066 (GRCm39)	N163S	probably benign	Het
Or5ac21	G	A	16: 59,123,521 (GRCm39)	E2K	probably damaging	Het
Or5d47	T	A	2: 87,804,380 (GRCm39)	S210C	probably benign	Het
Or7e166	A	T	9: 19,625,049 (GRCm39)	T309S	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Per2	C	T	1: 91,372,373 (GRCm39)	V234I	probably damaging	Het
Pign	A	G	1: 105,485,792 (GRCm39)	V735A	possibly damaging	Het
Plekha7	T	C	7: 115,727,809 (GRCm39)	K85R	probably benign	Het
Pnma2	C	T	14: 67,154,323 (GRCm39)	T249I	probably benign	Het
Polr2b	A	G	5: 77,493,189 (GRCm39)	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,576,186 (GRCm39)	L519H	probably damaging	Het
Ptar1	T	C	19: 23,695,277 (GRCm39)	I248T	probably benign	Het
Ptprh	A	C	7: 4,576,507 (GRCm39)	L251R	probably damaging	Het
Purg	T	C	8: 33,876,980 (GRCm39)	M206T	probably benign	Het
Pwp2	A	T	10: 78,018,290 (GRCm39)	F134I	probably damaging	Het
Riok3	T	A	18: 12,286,075 (GRCm39)	H434Q	probably benign	Het
Sorbs2	A	G	8: 46,216,220 (GRCm39)	I187V	probably damaging	Het
Tdg	T	A	10: 82,477,204 (GRCm39)	V85E	probably benign	Het
Tfb1m	C	T	17: 3,593,422 (GRCm39)	V166I	probably benign	Het
Tmem163	A	T	1: 127,419,383 (GRCm39)	M274K	probably damaging	Het
Tpr	T	C	1: 150,303,878 (GRCm39)	I1343T	probably benign	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Tut7	G	A	13: 59,969,880 (GRCm39)	A5V	probably benign	Het
Usp34	A	G	11: 23,386,040 (GRCm39)	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,260,487 (GRCm39)	T176S	possibly damaging	Het
Vps52	C	T	17: 34,180,100 (GRCm39)	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,473,514 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,966,272 (GRCm39)	F169L	probably benign	Het
Zfyve16	T	C	13: 92,658,625 (GRCm39)	R429G	probably benign	Het
Zzef1	A	G	11: 72,803,678 (GRCm39)	E2504G	probably damaging	Het

Other mutations in Tbc1d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Tbc1d2b	APN	9	90,108,262 (GRCm39)	missense	probably benign
IGL00791:Tbc1d2b	APN	9	90,109,481 (GRCm39)	missense	probably benign	0.18
IGL01457:Tbc1d2b	APN	9	90,087,144 (GRCm39)	missense	probably damaging	1.00
IGL01535:Tbc1d2b	APN	9	90,097,526 (GRCm39)	splice site	probably benign
IGL02089:Tbc1d2b	APN	9	90,104,412 (GRCm39)	missense	possibly damaging	0.80
IGL02409:Tbc1d2b	APN	9	90,104,405 (GRCm39)	missense	probably benign	0.00
IGL02799:Tbc1d2b	APN	9	90,105,487 (GRCm39)	splice site	probably benign
IGL03198:Tbc1d2b	APN	9	90,104,510 (GRCm39)	missense	probably damaging	1.00
Leone	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
ocelot	UTSW	9	90,089,937 (GRCm39)	missense	probably damaging	1.00
panthera	UTSW	9	90,108,301 (GRCm39)	missense	probably benign
pardo	UTSW	9	90,101,197 (GRCm39)	missense	probably benign	0.13
pardus	UTSW	9	90,101,063 (GRCm39)	nonsense	probably null
roar	UTSW	9	90,100,975 (GRCm39)	nonsense	probably null
R0062:Tbc1d2b	UTSW	9	90,104,355 (GRCm39)	splice site	probably benign
R0062:Tbc1d2b	UTSW	9	90,104,355 (GRCm39)	splice site	probably benign
R0671:Tbc1d2b	UTSW	9	90,104,558 (GRCm39)	splice site	probably benign
R0682:Tbc1d2b	UTSW	9	90,131,915 (GRCm39)	missense	probably benign	0.01
R1074:Tbc1d2b	UTSW	9	90,104,393 (GRCm39)	missense	possibly damaging	0.68
R1075:Tbc1d2b	UTSW	9	90,104,393 (GRCm39)	missense	possibly damaging	0.68
R1140:Tbc1d2b	UTSW	9	90,108,429 (GRCm39)	missense	possibly damaging	0.91
R1892:Tbc1d2b	UTSW	9	90,100,996 (GRCm39)	missense	probably damaging	0.98
R4064:Tbc1d2b	UTSW	9	90,100,975 (GRCm39)	nonsense	probably null
R4541:Tbc1d2b	UTSW	9	90,087,222 (GRCm39)	missense	probably damaging	1.00
R4590:Tbc1d2b	UTSW	9	90,152,553 (GRCm39)	missense	possibly damaging	0.81
R4651:Tbc1d2b	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
R4652:Tbc1d2b	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
R4971:Tbc1d2b	UTSW	9	90,100,923 (GRCm39)	missense	probably benign	0.00
R5086:Tbc1d2b	UTSW	9	90,109,510 (GRCm39)	missense	probably benign
R5131:Tbc1d2b	UTSW	9	90,091,812 (GRCm39)	missense	probably damaging	1.00
R5205:Tbc1d2b	UTSW	9	90,089,863 (GRCm39)	missense	probably damaging	1.00
R5502:Tbc1d2b	UTSW	9	90,109,496 (GRCm39)	missense	probably benign
R5509:Tbc1d2b	UTSW	9	90,101,022 (GRCm39)	missense	probably damaging	1.00
R5534:Tbc1d2b	UTSW	9	90,109,559 (GRCm39)	missense	possibly damaging	0.89
R5729:Tbc1d2b	UTSW	9	90,089,925 (GRCm39)	missense	probably benign	0.22
R5735:Tbc1d2b	UTSW	9	90,104,462 (GRCm39)	missense	possibly damaging	0.71
R5847:Tbc1d2b	UTSW	9	90,091,777 (GRCm39)	missense	probably damaging	1.00
R6595:Tbc1d2b	UTSW	9	90,108,145 (GRCm39)	missense	probably benign	0.02
R6766:Tbc1d2b	UTSW	9	90,108,262 (GRCm39)	missense	probably benign
R7563:Tbc1d2b	UTSW	9	90,108,301 (GRCm39)	missense	probably benign
R7563:Tbc1d2b	UTSW	9	90,101,063 (GRCm39)	nonsense	probably null
R8126:Tbc1d2b	UTSW	9	90,104,369 (GRCm39)	missense	probably benign	0.00
R8162:Tbc1d2b	UTSW	9	90,089,937 (GRCm39)	missense	probably damaging	1.00
R8928:Tbc1d2b	UTSW	9	90,108,190 (GRCm39)	missense	probably damaging	1.00
R9182:Tbc1d2b	UTSW	9	90,152,652 (GRCm39)	missense	probably damaging	0.99
R9210:Tbc1d2b	UTSW	9	90,087,183 (GRCm39)	missense	possibly damaging	0.74
R9212:Tbc1d2b	UTSW	9	90,087,183 (GRCm39)	missense	possibly damaging	0.74
R9381:Tbc1d2b	UTSW	9	90,101,139 (GRCm39)	missense	possibly damaging	0.63
R9494:Tbc1d2b	UTSW	9	90,152,563 (GRCm39)	missense	probably damaging	1.00
X0066:Tbc1d2b	UTSW	9	90,100,711 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGACGGTCAACACACCAC -3'
(R):5'- ACCCATCTGAAAGTGAATTTTCCTG -3'

Sequencing Primer
(F):5'- AATGCCTGCTCGGATCAG -3'
(R):5'- CCTGTACACTATGGAGAGTCGATC -3'

Posted On

2017-02-28