Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Tbc1d2'

298077

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: 0.145) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46649916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 40 (D40G)

Ref Sequence

ENSEMBL: ENSMUSP00000103379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107750]

AlphaFold

B1AVH7

Predicted Effect

probably benign
Transcript: ENSMUST00000084621
AA Change: D40G

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

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: D40G

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: ENSMUST00000107750
AA Change: D40G

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

SMART Domains

Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: D40G

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
low complexity region	220	231	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly damaging	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
IGL01863:Tbc1d2	APN	4	46607064	missense	possibly damaging	0.66
IGL02014:Tbc1d2	APN	4	46649778	missense	possibly damaging	0.83
IGL02025:Tbc1d2	APN	4	46620713	missense	probably damaging	1.00
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
R8690:Tbc1d2	UTSW	4	46615106	missense	possibly damaging	0.95
R9025:Tbc1d2	UTSW	4	46607062	missense	probably damaging	1.00
R9236:Tbc1d2	UTSW	4	46609029	missense	probably benign	0.08
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

2015-04-16