Mutagenetix > Incidental Mutations

Incidental Mutation 'R8135:Tbc1d2'

632214

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2

Ensembl Gene

ENSMUSG00000039813

Gene Name

TBC1 domain family, member 2

Synonyms

PARIS-1, A630005A06Rik, LOC381605, PARIS1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R8135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46609071 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 722 (D722G)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084621
AA Change: D722G

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: D722G

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,696,995	I420V	probably benign	Het
Adam7	A	T	14: 68,516,573	M359K	probably damaging	Het
Adra1d	C	T	2: 131,561,772	A133T	probably damaging	Het
B3galnt2	T	A	13: 13,970,869		probably null	Het
Camk1g	A	G	1: 193,354,027	V175A	possibly damaging	Het
Cfi	A	G	3: 129,855,000	N178D	probably benign	Het
Csf2rb	T	A	15: 78,348,119	I542K	possibly damaging	Het
Ctsz	T	C	2: 174,429,153	T183A	probably benign	Het
Dhx8	A	G	11: 101,738,264	D213G	unknown	Het
Dph7	T	C	2: 24,969,544	I271T	probably benign	Het
Edem1	G	T	6: 108,829,061	E108*	probably null	Het
Enpp4	T	C	17: 44,101,335	T328A	probably benign	Het
Fasl	A	G	1: 161,787,128	V122A	probably benign	Het
Fut2	T	C	7: 45,651,142	T69A	probably damaging	Het
Gaa	T	C	11: 119,278,384		probably null	Het
Galnt5	T	A	2: 58,014,868	V481D	probably damaging	Het
Gsdma2	A	G	11: 98,652,046	I211V	probably benign	Het
H2-M10.4	T	C	17: 36,461,770	T107A	probably benign	Het
Iqcg	T	A	16: 33,029,024	K297N	probably benign	Het
Map2	A	G	1: 66,413,669	T573A	probably damaging	Het
Nhsl1	A	G	10: 18,531,432	D1438G	probably damaging	Het
Nipal2	A	T	15: 34,678,573	Y41N	possibly damaging	Het
Obscn	A	T	11: 59,031,877	S5878T	possibly damaging	Het
Pde6a	T	C	18: 61,285,925	F791L	probably damaging	Het
Phip	A	T	9: 82,930,374	N308K	probably benign	Het
Pigc	A	G	1: 161,970,565	K39E	possibly damaging	Het
Robo2	T	G	16: 73,933,160	I1050L	probably benign	Het
Rps2	A	G	17: 24,720,435	K54E	probably benign	Het
Set	T	A	2: 30,069,427	D137E	probably benign	Het
Sipa1l1	A	G	12: 82,341,301	I100M	probably benign	Het
Spdye4b	T	C	5: 143,195,022	V81A	probably damaging	Het
Tecpr1	T	A	5: 144,198,602	D1011V	probably damaging	Het
Unc80	A	T	1: 66,509,287	I573F	possibly damaging	Het
Vmn1r74	T	A	7: 11,847,603	C277S	probably benign	Het
Vwa1	T	A	4: 155,772,894	D149V	probably damaging	Het
Zfp397	T	A	18: 23,956,507	V23E	probably damaging	Het
Zmynd8	T	C	2: 165,812,426	D722G	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CAAAGGCCACTGTTGTGTTGG -3'
(R):5'- GTGAGCATCCTCCAAACCTC -3'

Sequencing Primer
(F):5'- TGTTGGAGAGGCAGAGTCCC -3'
(R):5'- GGGCGCCATGACTACCAG -3'

Posted On

2020-06-30