Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03198:Tbc1d2b'

412891

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03198

Quality Score

Status

Chromosome

Chromosomal Location

90202027-90270804 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90222457 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 544 (Y544C)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041767
AA Change: Y544C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: Y544C

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,549,952		probably benign	Het
Atp6v0a2	T	C	5: 124,712,361		probably null	Het
Brca1	G	T	11: 101,512,711		probably benign	Het
Cd55	A	T	1: 130,440,371	C372S	probably benign	Het
Clip2	A	T	5: 134,498,082		probably benign	Het
Dgkb	A	G	12: 38,136,616	N262D	probably damaging	Het
Fam227b	C	T	2: 126,124,579		probably null	Het
Foxj2	G	A	6: 122,833,007		probably null	Het
Gm4297	T	A	X: 24,552,571		probably benign	Het
Grik3	A	G	4: 125,659,762	D429G	probably benign	Het
Hcfc1	T	C	X: 73,951,329	I924V	possibly damaging	Het
Lrrk1	A	G	7: 66,306,894	V411A	probably damaging	Het
Mdh1	A	T	11: 21,564,168	V83E	probably damaging	Het
Pa2g4	A	G	10: 128,565,778	V17A	probably damaging	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Polg	A	G	7: 79,451,722	V1079A	probably damaging	Het
Polr2a	G	T	11: 69,747,281		probably null	Het
Ptk2	C	T	15: 73,236,216	S722N	probably damaging	Het
Rock2	A	G	12: 16,975,507	D1243G	probably benign	Het
Sirt4	T	C	5: 115,483,002	D37G	probably benign	Het
Slc35d1	T	C	4: 103,184,888	Y249C	probably damaging	Het
Snrnp27	A	T	6: 86,682,986		probably null	Het
Srek1	T	C	13: 103,744,935		probably null	Het
Sspo	A	T	6: 48,477,582	I2951F	probably benign	Het
Stxbp3	A	G	3: 108,827,089	F40L	probably damaging	Het
Sympk	T	C	7: 19,044,996	V604A	possibly damaging	Het
Tnpo2	C	T	8: 85,051,718	T592I	possibly damaging	Het
Txndc16	T	C	14: 45,151,484		probably benign	Het
Ubr5	A	T	15: 38,045,720	L120Q	probably damaging	Het
Wdfy4	A	T	14: 33,125,887	M836K	probably damaging	Het
Wdr48	A	G	9: 119,912,413	N141S	probably benign	Het
Zc3h7a	A	T	16: 11,162,664	Y28*	probably null	Het
Zfp423	T	C	8: 87,781,676	D659G	possibly 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
Leone	UTSW	9	90207887	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
R5509:Tbc1d2b	UTSW	9	90218969	missense	probably damaging	1.00
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
X0066:Tbc1d2b	UTSW	9	90218658	critical splice donor site	probably null

Posted On

2016-08-02