Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00589:Tbc1d2b'

14383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00589

Quality Score

Status

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90108262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 430 (T430A)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

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

AlphaFold

Q3U0J8

Predicted Effect

probably benign
Transcript: ENSMUST00000041767
AA Change: T430A

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

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: T430A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot9	A	T	X: 154,078,236 (GRCm39)	I261L	possibly damaging	Het
Adcy8	A	T	15: 64,659,216 (GRCm39)	F525I	probably damaging	Het
Ahr	A	T	12: 35,554,096 (GRCm39)	Y674*	probably null	Het
Baz1b	A	G	5: 135,225,346 (GRCm39)	E43G	possibly damaging	Het
Ccz1	T	C	5: 143,949,713 (GRCm39)	T72A	probably damaging	Het
Chd9	G	A	8: 91,742,474 (GRCm39)	R1629H	probably damaging	Het
Ell3	A	T	2: 121,270,761 (GRCm39)	D257E	probably benign	Het
Fbxw26	T	C	9: 109,547,016 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,566,332 (GRCm39)	D94N	probably damaging	Het
Mettl13	A	T	1: 162,369,960 (GRCm39)	S392R	probably damaging	Het
Ms4a1	T	A	19: 11,231,923 (GRCm39)	T151S	probably benign	Het
Nphp1	A	G	2: 127,605,769 (GRCm39)	I352T	probably damaging	Het
Or1e1	T	A	11: 73,244,869 (GRCm39)	C97S	probably damaging	Het
Pds5a	T	C	5: 65,813,687 (GRCm39)	D266G	probably damaging	Het
Rnf103	T	C	6: 71,486,067 (GRCm39)	Y233H	probably benign	Het
Rwdd4a	A	T	8: 47,997,219 (GRCm39)	E146V	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Slc17a5	T	C	9: 78,485,816 (GRCm39)	I90V	probably benign	Het
Slc38a3	G	A	9: 107,535,876 (GRCm39)	L86F	probably damaging	Het
Utrn	C	T	10: 12,554,362 (GRCm39)	V1576M	possibly damaging	Het
Vwa8	T	A	14: 79,275,635 (GRCm39)	L806Q	probably damaging	Het

Other mutations in Tbc1d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06