Mutagenetix > Incidental Mutation

Incidental Mutation 'R8690:Tbc1d2'

668293

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

068544-MU

Accession Numbers

Essential gene?

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

Stock #

R8690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46615106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 526 (E526K)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

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

AlphaFold

B1AVH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084621
AA Change: E526K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: E526K

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	A	12: 55,107,957 (GRCm39)	T81S	possibly damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Acbd5	T	A	2: 22,979,710 (GRCm39)	S210T	probably benign	Het
Adam10	T	A	9: 70,655,505 (GRCm39)	F324L	probably damaging	Het
Ak6	A	G	13: 100,791,857 (GRCm39)	N100S	possibly damaging	Het
Angptl3	G	T	4: 98,925,759 (GRCm39)	V362L	probably benign	Het
Ano9	C	A	7: 140,684,220 (GRCm39)	W514L	probably benign	Het
Asb8	T	C	15: 98,034,108 (GRCm39)	Y149C	probably damaging	Het
Bcl6b	C	A	11: 70,117,447 (GRCm39)	A392S	probably damaging	Het
Cad	T	A	5: 31,232,500 (GRCm39)	I1855N	possibly damaging	Het
Calm5	G	A	13: 3,904,277 (GRCm39)	G4R	probably damaging	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Ccnl1	A	T	3: 65,855,165 (GRCm39)	S399R	possibly damaging	Het
Cdh17	T	A	4: 11,783,163 (GRCm39)	I168N	probably benign	Het
Ces2g	C	T	8: 105,693,605 (GRCm39)	R429C	probably benign	Het
Chd3	T	C	11: 69,246,648 (GRCm39)		probably benign	Het
Cmtr2	T	A	8: 110,948,977 (GRCm39)	M429K	probably benign	Het
Cnga1	T	G	5: 72,761,835 (GRCm39)	I560L	probably benign	Het
Col6a5	A	G	9: 105,759,796 (GRCm39)	Y1975H	probably damaging	Het
Copb1	T	C	7: 113,849,463 (GRCm39)	I47V	probably benign	Het
Crbn	G	A	6: 106,777,010 (GRCm39)		probably benign	Het
Ddx41	A	G	13: 55,680,939 (GRCm39)	L324P	probably damaging	Het
Dhx57	A	G	17: 80,577,794 (GRCm39)		probably benign	Het
Dlgap2	A	T	8: 14,793,430 (GRCm39)	I475F	probably benign	Het
Dock2	T	A	11: 34,618,287 (GRCm39)	K110*	probably null	Het
Dpp7	T	C	2: 25,245,645 (GRCm39)	D147G	probably damaging	Het
Dync2h1	G	T	9: 7,075,824 (GRCm39)	D3014E	probably damaging	Het
Efcab5	A	T	11: 76,994,115 (GRCm39)	F1291I	probably damaging	Het
Endov	T	A	11: 119,382,736 (GRCm39)	V61D	probably benign	Het
Etv3	C	A	3: 87,443,786 (GRCm39)	P457T	possibly damaging	Het
Fam185a	T	A	5: 21,638,766 (GRCm39)	H199Q	probably benign	Het
Fat3	T	A	9: 15,878,397 (GRCm39)	E3361D	probably benign	Het
Fbn1	T	C	2: 125,186,015 (GRCm39)		probably benign	Het
Gm17079	A	T	14: 51,932,787 (GRCm39)	W37R		Het
Gpr68	T	C	12: 100,845,292 (GRCm39)	H84R	probably benign	Het
Gramd1b	A	T	9: 40,215,674 (GRCm39)	S725R	probably damaging	Het
Greb1	T	A	12: 16,746,548 (GRCm39)	T1241S	probably benign	Het
Hcn4	T	C	9: 58,751,193 (GRCm39)	M273T	probably benign	Het
Hdlbp	A	G	1: 93,341,640 (GRCm39)	V973A	probably damaging	Het
Ighv8-11	A	T	12: 115,531,164 (GRCm39)		probably benign	Het
Itpkb	A	T	1: 180,249,346 (GRCm39)	Q907L	probably benign	Het
Lmo7	T	A	14: 102,168,644 (GRCm39)	N1634K	unknown	Het
Lrrk1	C	A	7: 65,952,477 (GRCm39)	L486F	probably benign	Het
Mdfic	G	A	6: 15,799,653 (GRCm39)	C260Y	probably damaging	Het
Mdh2	T	C	5: 135,814,882 (GRCm39)	I140T	probably benign	Het
Myo9a	T	C	9: 59,782,657 (GRCm39)	V1775A	probably benign	Het
Or1j14	T	C	2: 36,418,207 (GRCm39)	V261A	probably benign	Het
Or51d1	C	A	7: 102,348,028 (GRCm39)	D194E	probably damaging	Het
Or52n3	T	C	7: 104,530,762 (GRCm39)	Y283H	probably damaging	Het
P2rx2	C	T	5: 110,490,380 (GRCm39)	V112I	probably damaging	Het
Psme4	T	A	11: 30,787,319 (GRCm39)	V1038E	probably benign	Het
Rab25	T	A	3: 88,452,388 (GRCm39)	R73S	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,308,955 (GRCm39)	Y729H		Het
Rnf213	A	G	11: 119,332,038 (GRCm39)	T2417A		Het
Rnft2	C	A	5: 118,366,935 (GRCm39)	A268S	probably benign	Het
Samhd1	T	C	2: 156,971,794 (GRCm39)	D116G	probably benign	Het
Sema6d	T	A	2: 124,506,937 (GRCm39)	V915E	probably benign	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Srcin1	C	A	11: 97,414,368 (GRCm39)	R1045L	probably damaging	Het
St18	T	A	1: 6,872,788 (GRCm39)	N174K	probably benign	Het
Stac3	G	A	10: 127,339,494 (GRCm39)	C130Y	probably damaging	Het
Stum	G	C	1: 180,310,740 (GRCm39)	P52R	probably damaging	Het
Tiam1	A	G	16: 89,694,900 (GRCm39)	S186P	probably damaging	Het
Tiparp	G	C	3: 65,460,963 (GRCm39)	V651L	probably benign	Het
Tmem19	C	T	10: 115,179,765 (GRCm39)	G244S	probably damaging	Het
Trip11	A	T	12: 101,839,656 (GRCm39)	V1658D	possibly damaging	Het
Ttyh3	A	C	5: 140,612,944 (GRCm39)	Y453D	probably damaging	Het
Ttyh3	G	T	5: 140,612,945 (GRCm39)	S452R	probably benign	Het
Ube2h	C	T	6: 30,262,338 (GRCm39)		probably benign	Het
Zbtb4	T	C	11: 69,667,618 (GRCm39)	S308P	probably damaging	Het
Zfyve1	T	C	12: 83,597,681 (GRCm39)	E672G	probably damaging	Het
Zswim5	G	A	4: 116,842,002 (GRCm39)	D861N	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
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
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'- ATCCTATGTGCCTGAGCCTG -3'
(R):5'- TCTATCTGCAGGTCCAGGAGAG -3'

Sequencing Primer
(F):5'- TGCCTGAGCCTGGGGAG -3'
(R):5'- TCCAGGAGAGGGGTGGGC -3'

Posted On

2021-04-30