Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Tbc1d2'

503314

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

044343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46614068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 671 (T671I)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

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

AlphaFold

B1AVH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000084621
AA Change: T671I

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

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: T671I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	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
R0347:Tbc1d2	UTSW	4	46,620,574 (GRCm39)	missense	possibly damaging	0.82
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
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'- GCCTGGGTTCTGAGATAAGAAAC -3'
(R):5'- ACTGCTAGCCAAGATCCAGG -3'

Sequencing Primer
(F):5'- TTCTGAGATAAGAAACGGAGGCAC -3'
(R):5'- TAGCCAAGATCCAGGCCTTG -3'

Posted On

2018-02-27