Mutagenetix > Incidental Mutations

Incidental Mutation 'R1658:Tbc1d2'

186514

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

039694-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R1658 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46614207 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 625 (R625C)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084621
AA Change: R625C

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

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: R625C

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,178,100	S604A	probably benign	Het
Apbb1	G	A	7: 105,574,084	P107S	probably damaging	Het
Baz2a	T	A	10: 128,124,383	M1489K	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdca2	A	G	14: 67,677,699	S704P	possibly damaging	Het
Chfr	T	C	5: 110,153,169	I312T	probably damaging	Het
Csmd1	A	G	8: 16,081,725	V1662A	possibly damaging	Het
Dgkd	T	A	1: 87,926,268	L611Q	probably damaging	Het
Dicer1	A	G	12: 104,700,414	V1376A	probably benign	Het
Elp2	C	T	18: 24,617,413	T269M	probably benign	Het
Ephb6	T	A	6: 41,614,245	V112E	probably damaging	Het
Fbxo11	A	T	17: 88,012,658	Y209N	probably benign	Het
Frem1	C	T	4: 83,001,808	R437Q	probably damaging	Het
G6pc2	A	T	2: 69,227,069	K353M	probably damaging	Het
Gabbr1	A	G	17: 37,047,507	T46A	probably damaging	Het
Gbp9	T	A	5: 105,094,468	Q135L	probably damaging	Het
Gstp1	A	T	19: 4,037,375	M20K	probably damaging	Het
Heatr6	A	G	11: 83,758,367	R183G	probably damaging	Het
Ints11	A	G	4: 155,887,728	K397E	probably damaging	Het
Intu	A	G	3: 40,692,781	T695A	probably benign	Het
Kif21b	T	C	1: 136,171,285	V1437A	probably damaging	Het
Klhl24	T	A	16: 20,107,092	Y123*	probably null	Het
Lipm	C	T	19: 34,116,447	L255F	probably benign	Het
Max	A	T	12: 76,938,581	M121K	probably benign	Het
Mga	A	T	2: 119,941,689	I1677L	possibly damaging	Het
Msantd1	C	A	5: 34,921,561	L147M	probably damaging	Het
Msantd1	T	A	5: 34,921,562	L147Q	probably benign	Het
Mylk4	T	C	13: 32,712,789	D363G	possibly damaging	Het
Naaa	T	C	5: 92,272,441		probably null	Het
Ninl	A	G	2: 150,964,159	Y381H	probably damaging	Het
Nwd2	A	G	5: 63,807,246	N1391S	probably damaging	Het
Olfr1537	C	T	9: 39,237,959	C155Y	probably benign	Het
Olfr421-ps1	G	A	1: 174,152,223	A236T	probably damaging	Het
Phip	A	G	9: 82,871,498	V1731A	probably benign	Het
Plxnb1	T	A	9: 109,102,871	C488*	probably null	Het
Rgs7	T	C	1: 175,079,554	I374V	probably benign	Het
Rin2	A	T	2: 145,876,456	M574L	probably benign	Het
Rps18	A	T	17: 33,952,418	D92E	probably benign	Het
Scrn1	T	A	6: 54,520,806	I267L	probably benign	Het
Stard9	T	C	2: 120,701,542	V67A	probably benign	Het
Syne1	T	G	10: 5,367,616	M493L	probably benign	Het
Tcerg1l	A	G	7: 138,394,180	S200P	probably damaging	Het
Tet3	A	T	6: 83,369,057	V1331E	probably benign	Het
Ticrr	A	T	7: 79,695,549	I1721F	possibly damaging	Het
Tjp2	T	C	19: 24,112,947	D577G	probably damaging	Het
Tmem2	T	C	19: 21,801,879	V351A	probably damaging	Het
Tmem38b	A	G	4: 53,840,713	M43V	probably benign	Het
Trabd	T	A	15: 89,085,866		probably null	Het
Trpv5	C	A	6: 41,674,282	D277Y	probably damaging	Het
Tubb1	A	C	2: 174,456,623	D67A	probably damaging	Het
Ubxn7	A	G	16: 32,381,236		probably null	Het
Ugp2	G	A	11: 21,333,774	P98S	probably benign	Het
Vmn2r66	G	T	7: 85,007,747	P150Q	probably benign	Het
Zbtb11	A	T	16: 55,974,225	H55L	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
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
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
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'- GTTCCTAAGACCCGCCAGACATTC -3'
(R):5'- TGCCAGACTACGAGATGGAAGACC -3'

Sequencing Primer
(F):5'- AAGAGAGGGCTGTGTTCTCAC -3'
(R):5'- CTACGAGATGGAAGACCTAAAACTG -3'

Posted On

2014-05-09