Mutagenetix > Incidental Mutation

Incidental Mutation 'R5600:Tbc1d2'

438976

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

043152-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R5600 (G1)

Quality Score

142

Status

Not validated

Chromosome

Chromosomal Location

46604390-46650209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46629912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 252 (G252R)

Ref Sequence

ENSEMBL: ENSMUSP00000081670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107750]

AlphaFold

B1AVH7

Predicted Effect

probably benign
Transcript: ENSMUST00000084621
AA Change: G252R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: G252R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107750

SMART Domains

Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813

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
low complexity region	220	231	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	A	C	15: 77,635,088	M264R	probably damaging	Het
Asprv1	G	T	6: 86,629,062	E297*	probably null	Het
Atp6v1c1	T	C	15: 38,686,863	V234A	probably benign	Het
Ccp110	G	A	7: 118,729,725		probably null	Het
Fgfrl1	T	C	5: 108,705,302	C173R	probably damaging	Het
Gm5431	G	A	11: 48,894,756	T264M	possibly damaging	Het
Golga1	T	C	2: 39,020,099	E637G	probably damaging	Het
Gpr158	A	G	2: 21,827,235	T1049A	probably benign	Het
Hcn4	T	A	9: 58,859,293		probably null	Het
Krt86	G	A	15: 101,476,505	V260I	probably benign	Het
Ktn1	A	T	14: 47,690,033	Q548L	probably damaging	Het
Lingo4	A	T	3: 94,401,913	I53F	probably benign	Het
Lrrk1	A	C	7: 66,307,215	I336S	probably benign	Het
Magel2	G	T	7: 62,379,766	G806V	unknown	Het
Mrc2	T	A	11: 105,333,666	S501T	probably damaging	Het
Mrps18a	T	A	17: 46,125,649	L128*	probably null	Het
Mtor	G	T	4: 148,491,470	L1360F	probably damaging	Het
Mtpap	A	G	18: 4,379,674	E88G	probably damaging	Het
Myo5c	A	G	9: 75,289,154	K1294R	probably benign	Het
Olfr118	G	A	17: 37,672,285	M87I	possibly damaging	Het
Pik3c3	G	A	18: 30,311,293	V520M	probably damaging	Het
Pptc7	T	A	5: 122,320,855	V305E	probably damaging	Het
Ptgfrn	T	C	3: 101,056,250	D682G	probably damaging	Het
Rfx6	A	T	10: 51,723,061	Q538L	probably damaging	Het
Sbk1	G	A	7: 126,292,243	R283H	probably damaging	Het
Sfswap	T	C	5: 129,513,158	F240L	probably damaging	Het
Siglec1	T	A	2: 131,085,583	H101L	probably benign	Het
Smg1	A	G	7: 118,167,884		probably benign	Het
Spink5	A	G	18: 44,018,711	T986A	probably damaging	Het
Stat1	T	A	1: 52,148,942	S496T	probably benign	Het
Tenm2	C	T	11: 36,163,714		probably null	Het
Tiam1	G	T	16: 89,865,365	R622S	probably damaging	Het
Vmn2r109	C	A	17: 20,540,927	D723Y	probably damaging	Het
Vmn2r70	G	T	7: 85,563,727	Q491K	probably benign	Het
Wdr66	T	C	5: 123,288,698	V383A	possibly damaging	Het
Wnk1	A	C	6: 119,949,358	S1297R	probably damaging	Het
Zan	C	T	5: 137,386,971	V5067I	unknown	Het
Zfp108	A	G	7: 24,260,586	S201G	probably benign	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
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
R9025:Tbc1d2	UTSW	4	46607062	missense	probably damaging	1.00
R9236:Tbc1d2	UTSW	4	46609029	missense	probably benign	0.08
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'- AACCTGAGTCAGCCTGGG -3'
(R):5'- CTGAGGCCAGAGCTCTGCA -3'

Sequencing Primer
(F):5'- CAGCCCCATGATAGGATTAGTGTC -3'
(R):5'- AGAGCTCTGCAGGCAGC -3'

Posted On

2016-10-26