Mutagenetix > Incidental Mutation

Incidental Mutation 'R1140:Tbc1d2b'

102043

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

MMRRC Submission

039213-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1140 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90108429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 374 (V374A)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000144348]

AlphaFold

Q3U0J8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041767
AA Change: V374A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: V374A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144348

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,876,874 (GRCm39)	S161T	probably damaging	Het
Ahnak	T	A	19: 8,981,609 (GRCm39)	D964E	probably damaging	Het
Aldh18a1	T	C	19: 40,562,729 (GRCm39)	I215V	probably benign	Het
Arfgef3	T	A	10: 18,473,096 (GRCm39)	I1656F	possibly damaging	Het
Aurka	T	C	2: 172,199,149 (GRCm39)	D285G	probably damaging	Het
Cep83	A	G	10: 94,573,752 (GRCm39)	K214E	probably damaging	Het
Dis3l2	A	T	1: 86,749,160 (GRCm39)	T209S	probably benign	Het
Dock7	A	G	4: 98,953,643 (GRCm39)	M363T	possibly damaging	Het
Dsc2	C	A	18: 20,165,269 (GRCm39)	K901N	probably damaging	Het
Fam234b	A	T	6: 135,202,756 (GRCm39)	H370L	probably benign	Het
Fanca	A	C	8: 124,039,868 (GRCm39)		probably null	Het
Fastkd5	C	T	2: 130,458,135 (GRCm39)	V152I	probably benign	Het
Fndc1	T	C	17: 7,994,258 (GRCm39)	R337G	unknown	Het
Fsip2	T	A	2: 82,805,378 (GRCm39)	Y566N	probably damaging	Het
Gsc	A	T	12: 104,439,361 (GRCm39)	M5K	probably damaging	Het
Muc5b	A	G	7: 141,412,733 (GRCm39)	E1893G	unknown	Het
Myh7	T	C	14: 55,210,339 (GRCm39)	T1789A	probably damaging	Het
Npr2	A	G	4: 43,648,353 (GRCm39)	T884A	possibly damaging	Het
Or1e29	T	A	11: 73,667,680 (GRCm39)	M158L	probably benign	Het
Parg	T	C	14: 32,018,200 (GRCm39)	S432P	probably benign	Het
Ptdss1	T	C	13: 67,111,420 (GRCm39)	V162A	probably benign	Het
Samsn1	C	T	16: 75,685,630 (GRCm39)	E43K	possibly damaging	Het
Sis	C	T	3: 72,858,949 (GRCm39)	V361I	probably damaging	Het
Speg	A	T	1: 75,405,739 (GRCm39)	N2981I	probably damaging	Het
Stk32c	C	T	7: 138,705,095 (GRCm39)	R23Q	probably damaging	Het
Taok3	T	C	5: 117,366,118 (GRCm39)	S231P	possibly damaging	Het
Xxylt1	T	A	16: 30,826,666 (GRCm39)		probably null	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
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
R5928:Tbc1d2b	UTSW	9	90,101,197 (GRCm39)	missense	probably benign	0.13
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

Posted On

2014-01-15