Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Tbc1d2'

178425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d2

Ensembl Gene

ENSMUSG00000039813

Gene Name

TBC1 domain family, member 2

Synonyms

PARIS-1, A630005A06Rik, LOC381605, PARIS1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46607064 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 782 (I782T)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107756]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084621
AA Change: I782T

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: I782T

Domain	Start	End	E-Value	Type
PH	44	143	1.94e-11	SMART
low complexity region	147	159	N/A	INTRINSIC
low complexity region	165	180	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
coiled coil region	302	333	N/A	INTRINSIC
coiled coil region	362	394	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
Blast:TBC	454	491	3e-14	BLAST
low complexity region	526	539	N/A	INTRINSIC
Blast:TBC	557	591	3e-10	BLAST
TBC	616	834	1.63e-60	SMART
coiled coil region	869	906	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107756

SMART Domains

Protein: ENSMUSP00000103385
Gene: ENSMUSG00000028337

Domain	Start	End	E-Value	Type
DUF1899	5	69	3.93e-33	SMART
WD40	68	111	2.04e-5	SMART
WD40	121	161	1.58e-2	SMART
WD40	169	208	2.55e-6	SMART
DUF1900	261	397	9.15e-84	SMART
coiled coil region	488	521	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Tbc1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Tbc1d2	APN	4	46649745	missense	probably benign	0.04
IGL01748:Tbc1d2	APN	4	46616306	missense	probably damaging	0.99
IGL02014:Tbc1d2	APN	4	46649778	missense	possibly damaging	0.83
IGL02025:Tbc1d2	APN	4	46620713	missense	probably damaging	1.00
IGL02551:Tbc1d2	APN	4	46649916	missense	probably benign
IGL02571:Tbc1d2	APN	4	46628370	missense	probably benign	0.00
IGL03149:Tbc1d2	APN	4	46637619	missense	probably benign	0.31
R0347:Tbc1d2	UTSW	4	46620574	missense	possibly damaging	0.82
R0374:Tbc1d2	UTSW	4	46649913	missense	possibly damaging	0.95
R0522:Tbc1d2	UTSW	4	46649806	missense	probably damaging	1.00
R0883:Tbc1d2	UTSW	4	46609003	nonsense	probably null
R1227:Tbc1d2	UTSW	4	46620629	missense	probably benign	0.00
R1464:Tbc1d2	UTSW	4	46606491	missense	possibly damaging	0.51
R1464:Tbc1d2	UTSW	4	46606491	missense	possibly damaging	0.51
R1658:Tbc1d2	UTSW	4	46614207	missense	probably damaging	1.00
R1959:Tbc1d2	UTSW	4	46606419	missense	probably benign	0.44
R2108:Tbc1d2	UTSW	4	46637652	missense	possibly damaging	0.62
R3864:Tbc1d2	UTSW	4	46620484	missense	probably benign	0.01
R4475:Tbc1d2	UTSW	4	46609080	missense	possibly damaging	0.92
R5112:Tbc1d2	UTSW	4	46606503	missense	probably damaging	1.00
R5127:Tbc1d2	UTSW	4	46633639	intron	probably benign
R5215:Tbc1d2	UTSW	4	46614006	missense	probably benign	0.42
R5475:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5550:Tbc1d2	UTSW	4	46646138	missense	probably benign	0.00
R5558:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5564:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5599:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5600:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5699:Tbc1d2	UTSW	4	46616298	missense	probably benign	0.31
R5866:Tbc1d2	UTSW	4	46637715	missense	possibly damaging	0.80
R5909:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5911:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R5980:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6194:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6195:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6209:Tbc1d2	UTSW	4	46614068	missense	probably damaging	1.00
R6211:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6232:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6242:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6261:Tbc1d2	UTSW	4	46637692	missense	possibly damaging	0.47
R6273:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6274:Tbc1d2	UTSW	4	46629912	missense	probably benign	0.01
R6285:Tbc1d2	UTSW	4	46615045	missense	possibly damaging	0.49
R6333:Tbc1d2	UTSW	4	46620736	missense	possibly damaging	0.64
R6369:Tbc1d2	UTSW	4	46614420	missense	probably benign	0.41
R6912:Tbc1d2	UTSW	4	46649712	missense	probably damaging	1.00
R7428:Tbc1d2	UTSW	4	46649965	missense	probably benign	0.02
R7775:Tbc1d2	UTSW	4	46637746	splice site	probably null
R7824:Tbc1d2	UTSW	4	46637746	splice site	probably null
R8069:Tbc1d2	UTSW	4	46649737	missense	possibly damaging	0.81
R8135:Tbc1d2	UTSW	4	46609071	missense	probably benign	0.31
R8203:Tbc1d2	UTSW	4	46606476	missense	probably damaging	1.00
R8271:Tbc1d2	UTSW	4	46649791	missense	possibly damaging	0.88
X0023:Tbc1d2	UTSW	4	46615037	missense	probably benign	0.00
X0063:Tbc1d2	UTSW	4	46606492	missense	probably damaging	1.00
Z1177:Tbc1d2	UTSW	4	46650016	missense	probably benign

Posted On

2014-05-07