Mutagenetix > Incidental Mutation

Incidental Mutation 'R0347:Tbc1d2'

38432

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2

Ensembl Gene

ENSMUSG00000039813

Gene Name

TBC1 domain family, member 2

Synonyms

PARIS-1, LOC381605, PARIS1, A630005A06Rik

MMRRC Submission

038554-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R0347 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46620574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 412 (D412G)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

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

AlphaFold

B1AVH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084621
AA Change: D412G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: D412G

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

Meta Mutation Damage Score

0.0915

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,913,748 (GRCm39)	E908G	probably benign	Het
Abcb5	T	A	12: 118,928,986 (GRCm39)		probably benign	Het
Adhfe1	T	A	1: 9,623,655 (GRCm39)	F102Y	probably benign	Het
Aff4	A	G	11: 53,290,915 (GRCm39)	Y625C	probably benign	Het
Alox5	T	C	6: 116,390,513 (GRCm39)	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,243,753 (GRCm39)	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,423,979 (GRCm39)	*1084R	probably null	Het
Apol10a	A	T	15: 77,372,891 (GRCm39)	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,750,797 (GRCm39)	T70I	unknown	Het
Arid2	A	G	15: 96,268,833 (GRCm39)	N982S	probably benign	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camsap3	A	G	8: 3,652,029 (GRCm39)	D291G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,196,361 (GRCm39)	G162V	probably damaging	Het
Cep44	T	G	8: 56,998,510 (GRCm39)	E56A	probably damaging	Het
Cfap410	A	T	10: 77,820,256 (GRCm39)	I209F	probably damaging	Het
Cfap65	A	G	1: 74,965,603 (GRCm39)	L469P	probably damaging	Het
Cilp	T	A	9: 65,187,435 (GRCm39)	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,630,211 (GRCm39)	P7S	probably damaging	Het
Cyp11a1	T	C	9: 57,923,543 (GRCm39)		probably benign	Het
Cyp3a11	C	T	5: 145,802,735 (GRCm39)	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,158,327 (GRCm39)	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,280,104 (GRCm39)	S2678T	probably damaging	Het
Dock1	T	C	7: 134,365,596 (GRCm39)	I428T	probably damaging	Het
Fam83f	A	G	15: 80,556,458 (GRCm39)	D114G	probably damaging	Het
Flt3	T	A	5: 147,294,802 (GRCm39)	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,383,824 (GRCm39)	F31L	probably damaging	Het
Glrx3	G	A	7: 137,039,430 (GRCm39)	E10K	unknown	Het
Gm12185	T	C	11: 48,806,009 (GRCm39)	E394G	probably benign	Het
Gpatch1	C	T	7: 34,997,056 (GRCm39)	V381M	probably benign	Het
Grm8	T	C	6: 27,981,221 (GRCm39)	S230G	probably benign	Het
Heyl	A	T	4: 123,127,733 (GRCm39)	D25V	probably benign	Het
Junb	G	A	8: 85,705,107 (GRCm39)		probably benign	Het
Klhl29	C	A	12: 5,134,354 (GRCm39)	V747F	probably damaging	Het
Krt77	T	C	15: 101,768,304 (GRCm39)	H569R	unknown	Het
Ldhb	T	C	6: 142,439,859 (GRCm39)	N227S	probably benign	Het
Megf6	A	G	4: 154,339,092 (GRCm39)	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,101,519 (GRCm39)	Q136L	probably benign	Het
Myh2	C	T	11: 67,076,130 (GRCm39)		probably benign	Het
Nadk2	T	A	15: 9,084,287 (GRCm39)	D133E	probably benign	Het
Neurod4	G	A	10: 130,106,980 (GRCm39)	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,378,210 (GRCm39)	T465K	probably damaging	Het
Nipbl	A	G	15: 8,380,216 (GRCm39)	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,415 (GRCm39)	K439E	possibly damaging	Het
Or10q3	A	T	19: 11,847,797 (GRCm39)	L261H	probably damaging	Het
Or1e32	C	T	11: 73,705,137 (GRCm39)	G257D	probably damaging	Het
Or2a20	T	C	6: 43,194,296 (GRCm39)	F150L	probably benign	Het
Pds5b	T	A	5: 150,659,892 (GRCm39)		probably benign	Het
Pira13	A	T	7: 3,825,873 (GRCm39)	V332E	probably damaging	Het
Plch1	A	G	3: 63,660,737 (GRCm39)	M282T	probably damaging	Het
Plch2	C	A	4: 155,071,178 (GRCm39)	R1067L	possibly damaging	Het
Polr1has	T	A	17: 37,276,207 (GRCm39)	M114K	probably damaging	Het
Pou2f2	A	C	7: 24,797,126 (GRCm39)	F206V	probably damaging	Het
Prss50	A	G	9: 110,691,418 (GRCm39)	I49V	probably damaging	Het
Rexo5	T	A	7: 119,423,119 (GRCm39)		probably null	Het
Rgl2	C	T	17: 34,151,712 (GRCm39)	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,268,253 (GRCm39)	K1280*	probably null	Het
Rpl24	T	A	16: 55,790,540 (GRCm39)		probably null	Het
Satb1	T	A	17: 52,046,934 (GRCm39)	K763*	probably null	Het
Scart2	T	A	7: 139,877,767 (GRCm39)	H800Q	probably damaging	Het
Sema6a	T	A	18: 47,424,196 (GRCm39)	R237S	probably damaging	Het
Spg11	T	C	2: 121,927,850 (GRCm39)	T645A	probably damaging	Het
Srrt	T	A	5: 137,297,938 (GRCm39)		probably benign	Het
Tanc1	T	C	2: 59,673,335 (GRCm39)	V1480A	probably benign	Het
Tecrl	T	C	5: 83,442,479 (GRCm39)	E198G	probably damaging	Het
Tigd4	A	G	3: 84,501,167 (GRCm39)	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,269,213 (GRCm39)	L226V	probably benign	Het
Ttll13	T	C	7: 79,910,253 (GRCm39)	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,817,515 (GRCm39)	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,832,702 (GRCm39)	H98Q	probably damaging	Het
Zbtb47	C	T	9: 121,592,168 (GRCm39)	P198S	probably damaging	Het
Zfp959	T	A	17: 56,204,180 (GRCm39)	Y69*	probably null	Het

Other mutations in Tbc1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Tbc1d2	APN	4	46,649,745 (GRCm39)	missense	probably benign	0.04
IGL01748:Tbc1d2	APN	4	46,616,306 (GRCm39)	missense	probably damaging	0.99
IGL01863:Tbc1d2	APN	4	46,607,064 (GRCm39)	missense	possibly damaging	0.66
IGL02014:Tbc1d2	APN	4	46,649,778 (GRCm39)	missense	possibly damaging	0.83
IGL02025:Tbc1d2	APN	4	46,620,713 (GRCm39)	missense	probably damaging	1.00
IGL02551:Tbc1d2	APN	4	46,649,916 (GRCm39)	missense	probably benign
IGL02571:Tbc1d2	APN	4	46,628,370 (GRCm39)	missense	probably benign	0.00
IGL03149:Tbc1d2	APN	4	46,637,619 (GRCm39)	missense	probably benign	0.31
R0374:Tbc1d2	UTSW	4	46,649,913 (GRCm39)	missense	possibly damaging	0.95
R0522:Tbc1d2	UTSW	4	46,649,806 (GRCm39)	missense	probably damaging	1.00
R0883:Tbc1d2	UTSW	4	46,609,003 (GRCm39)	nonsense	probably null
R1227:Tbc1d2	UTSW	4	46,620,629 (GRCm39)	missense	probably benign	0.00
R1464:Tbc1d2	UTSW	4	46,606,491 (GRCm39)	missense	possibly damaging	0.51
R1464:Tbc1d2	UTSW	4	46,606,491 (GRCm39)	missense	possibly damaging	0.51
R1658:Tbc1d2	UTSW	4	46,614,207 (GRCm39)	missense	probably damaging	1.00
R1959:Tbc1d2	UTSW	4	46,606,419 (GRCm39)	missense	probably benign	0.44
R2108:Tbc1d2	UTSW	4	46,637,652 (GRCm39)	missense	possibly damaging	0.62
R3864:Tbc1d2	UTSW	4	46,620,484 (GRCm39)	missense	probably benign	0.01
R4475:Tbc1d2	UTSW	4	46,609,080 (GRCm39)	missense	possibly damaging	0.92
R5112:Tbc1d2	UTSW	4	46,606,503 (GRCm39)	missense	probably damaging	1.00
R5127:Tbc1d2	UTSW	4	46,633,639 (GRCm39)	intron	probably benign
R5215:Tbc1d2	UTSW	4	46,614,006 (GRCm39)	missense	probably benign	0.42
R5475:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5550:Tbc1d2	UTSW	4	46,646,138 (GRCm39)	missense	probably benign	0.00
R5558:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5564:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5599:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5600:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5699:Tbc1d2	UTSW	4	46,616,298 (GRCm39)	missense	probably benign	0.31
R5866:Tbc1d2	UTSW	4	46,637,715 (GRCm39)	missense	possibly damaging	0.80
R5909:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5911:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R5980:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6194:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6195:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6209:Tbc1d2	UTSW	4	46,614,068 (GRCm39)	missense	probably damaging	1.00
R6211:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6232:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6242:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6261:Tbc1d2	UTSW	4	46,637,692 (GRCm39)	missense	possibly damaging	0.47
R6273:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6274:Tbc1d2	UTSW	4	46,629,912 (GRCm39)	missense	probably benign	0.01
R6285:Tbc1d2	UTSW	4	46,615,045 (GRCm39)	missense	possibly damaging	0.49
R6333:Tbc1d2	UTSW	4	46,620,736 (GRCm39)	missense	possibly damaging	0.64
R6369:Tbc1d2	UTSW	4	46,614,420 (GRCm39)	missense	probably benign	0.41
R6912:Tbc1d2	UTSW	4	46,649,712 (GRCm39)	missense	probably damaging	1.00
R7428:Tbc1d2	UTSW	4	46,649,965 (GRCm39)	missense	probably benign	0.02
R7775:Tbc1d2	UTSW	4	46,637,746 (GRCm39)	splice site	probably null
R7824:Tbc1d2	UTSW	4	46,637,746 (GRCm39)	splice site	probably null
R8069:Tbc1d2	UTSW	4	46,649,737 (GRCm39)	missense	possibly damaging	0.81
R8135:Tbc1d2	UTSW	4	46,609,071 (GRCm39)	missense	probably benign	0.31
R8203:Tbc1d2	UTSW	4	46,606,476 (GRCm39)	missense	probably damaging	1.00
R8271:Tbc1d2	UTSW	4	46,649,791 (GRCm39)	missense	possibly damaging	0.88
R8690:Tbc1d2	UTSW	4	46,615,106 (GRCm39)	missense	possibly damaging	0.95
R9025:Tbc1d2	UTSW	4	46,607,062 (GRCm39)	missense	probably damaging	1.00
R9236:Tbc1d2	UTSW	4	46,609,029 (GRCm39)	missense	probably benign	0.08
R9622:Tbc1d2	UTSW	4	46,609,065 (GRCm39)	missense	probably damaging	1.00
R9776:Tbc1d2	UTSW	4	46,650,007 (GRCm39)	missense	probably benign	0.00
X0023:Tbc1d2	UTSW	4	46,615,037 (GRCm39)	missense	probably benign	0.00
X0063:Tbc1d2	UTSW	4	46,606,492 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d2	UTSW	4	46,650,016 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGACTAGAAGTCCACTCATGGCAC -3'
(R):5'- ATCATCCTACACAAGGCCCTGGAG -3'

Sequencing Primer
(F):5'- GAGGGGCCTATCTTGAAGC -3'
(R):5'- AGAAGCGAGCCTCCAGTG -3'

Posted On

2013-05-23