Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Tbc1d1'

487616

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d1

Ensembl Gene

ENSMUSG00000029174

Gene Name

TBC1 domain family, member 1

Synonyms

Nob1, Nobq1, 1110062G02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64156305-64351486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64275425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 439 (N439D)

Ref Sequence

ENSEMBL: ENSMUSP00000112493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043893] [ENSMUST00000101195] [ENSMUST00000119756] [ENSMUST00000121370]

AlphaFold

Q60949

Predicted Effect

probably damaging
Transcript: ENSMUST00000043893
AA Change: N439D

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

SMART Domains

Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: N439D

Domain	Start	End	E-Value	Type
PTB	16	164	3.29e-9	SMART
PTB	168	378	5.93e-34	SMART
low complexity region	519	540	N/A	INTRINSIC
Blast:TBC	541	635	2e-27	BLAST
low complexity region	640	663	N/A	INTRINSIC
Pfam:DUF3350	777	832	2.5e-25	PFAM
TBC	884	1104	3.84e-89	SMART
Blast:TBC	1129	1186	5e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000101195
AA Change: N439D

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

SMART Domains

Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: N439D

Domain	Start	End	E-Value	Type
PTB	16	164	3.29e-9	SMART
PTB	168	378	5.93e-34	SMART
low complexity region	519	540	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
Pfam:DUF3350	684	739	4e-29	PFAM
TBC	791	1011	3.84e-89	SMART
Blast:TBC	1036	1093	4e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000119756
AA Change: N310D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: N310D

Domain	Start	End	E-Value	Type
PTB	39	249	5.93e-34	SMART
low complexity region	390	411	N/A	INTRINSIC
low complexity region	427	438	N/A	INTRINSIC
Pfam:DUF3350	555	610	2.9e-29	PFAM
TBC	662	882	3.84e-89	SMART
Blast:TBC	907	964	4e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000121370
AA Change: N439D

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

SMART Domains

Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: N439D

Domain	Start	End	E-Value	Type
PTB	16	164	3.29e-9	SMART
PTB	168	378	5.93e-34	SMART
low complexity region	519	540	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
Pfam:DUF3350	684	739	4e-29	PFAM
TBC	791	1011	3.84e-89	SMART
Blast:TBC	1036	1093	4e-12	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000147348
AA Change: N2D

SMART Domains

Protein: ENSMUSP00000119710
Gene: ENSMUSG00000029174
AA Change: N2D

Domain	Start	End	E-Value	Type
PTB	16	164	3.29e-9	SMART
PTB	168	378	5.93e-34	SMART
low complexity region	519	540	N/A	INTRINSIC
Blast:TBC	541	635	1e-27	BLAST
low complexity region	640	663	N/A	INTRINSIC
Pfam:DUF3350	777	832	3.3e-29	PFAM
TBC	884	1086	2.13e-32	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Tbc1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Tbc1d1	APN	5	64256992	missense	probably damaging	1.00
IGL02341:Tbc1d1	APN	5	64275407	missense	probably damaging	1.00
IGL02353:Tbc1d1	APN	5	64256836	missense	probably damaging	1.00
IGL02360:Tbc1d1	APN	5	64256836	missense	probably damaging	1.00
IGL02963:Tbc1d1	APN	5	64264366	missense	probably damaging	1.00
IGL03003:Tbc1d1	APN	5	64316438	missense	probably damaging	1.00
Betrayal	UTSW	5	64173484	missense	probably damaging	1.00
Perfidy	UTSW	5	64335277	critical splice acceptor site	probably null
R0035:Tbc1d1	UTSW	5	64256737	missense	probably damaging	1.00
R0084:Tbc1d1	UTSW	5	64324454	missense	probably damaging	0.96
R0321:Tbc1d1	UTSW	5	64339594	missense	probably damaging	1.00
R0559:Tbc1d1	UTSW	5	64173793	missense	probably damaging	1.00
R1296:Tbc1d1	UTSW	5	64264432	missense	probably damaging	1.00
R1922:Tbc1d1	UTSW	5	64311221	missense	probably damaging	1.00
R1928:Tbc1d1	UTSW	5	64345300	missense	probably damaging	1.00
R2095:Tbc1d1	UTSW	5	64316501	missense	probably benign	0.01
R2107:Tbc1d1	UTSW	5	64284705	missense	probably benign	0.19
R2253:Tbc1d1	UTSW	5	64284800	missense	probably benign	0.00
R3545:Tbc1d1	UTSW	5	64286007	missense	probably damaging	1.00
R3546:Tbc1d1	UTSW	5	64286007	missense	probably damaging	1.00
R3547:Tbc1d1	UTSW	5	64286007	missense	probably damaging	1.00
R4039:Tbc1d1	UTSW	5	64316428	missense	probably damaging	0.99
R4289:Tbc1d1	UTSW	5	64260428	missense	probably damaging	1.00
R4380:Tbc1d1	UTSW	5	64333548	missense	probably benign	0.29
R4405:Tbc1d1	UTSW	5	64173670	missense	possibly damaging	0.93
R4564:Tbc1d1	UTSW	5	64173484	missense	probably damaging	1.00
R4722:Tbc1d1	UTSW	5	64263557	missense	probably damaging	1.00
R4779:Tbc1d1	UTSW	5	64278046	critical splice donor site	probably null
R5256:Tbc1d1	UTSW	5	64282009	missense	probably damaging	1.00
R5268:Tbc1d1	UTSW	5	64324567	missense	probably damaging	0.99
R5510:Tbc1d1	UTSW	5	64333395	missense	probably damaging	1.00
R5547:Tbc1d1	UTSW	5	64324544	missense	possibly damaging	0.73
R5620:Tbc1d1	UTSW	5	64173712	missense	probably benign	0.44
R5680:Tbc1d1	UTSW	5	64324544	missense	possibly damaging	0.73
R5874:Tbc1d1	UTSW	5	64349930	makesense	probably null
R6002:Tbc1d1	UTSW	5	64333433	missense	probably damaging	1.00
R6058:Tbc1d1	UTSW	5	64278009	missense	probably damaging	1.00
R6092:Tbc1d1	UTSW	5	64349899	missense	probably benign	0.00
R6118:Tbc1d1	UTSW	5	64284037	missense	probably damaging	0.98
R6447:Tbc1d1	UTSW	5	64333493	missense	probably damaging	1.00
R6824:Tbc1d1	UTSW	5	64256902	missense	probably benign	0.02
R6913:Tbc1d1	UTSW	5	64311109	missense	probably benign	0.26
R7039:Tbc1d1	UTSW	5	64284757	missense	probably benign	0.08
R7150:Tbc1d1	UTSW	5	64173484	missense	probably damaging	1.00
R7154:Tbc1d1	UTSW	5	64173813	missense	possibly damaging	0.56
R7316:Tbc1d1	UTSW	5	64335277	critical splice acceptor site	probably null
R7621:Tbc1d1	UTSW	5	64264330	missense	probably damaging	1.00
R7653:Tbc1d1	UTSW	5	64256790	missense	probably benign	0.21
R7684:Tbc1d1	UTSW	5	64316486	missense	probably benign	0.13
R7816:Tbc1d1	UTSW	5	64349752	missense	probably damaging	0.98
R8832:Tbc1d1	UTSW	5	64284677	splice site	probably benign
R9027:Tbc1d1	UTSW	5	64257006	missense	probably benign	0.01
R9287:Tbc1d1	UTSW	5	64278021	missense	probably damaging	1.00
X0064:Tbc1d1	UTSW	5	64275452	missense	probably benign	0.04
Z1088:Tbc1d1	UTSW	5	64275393	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCACTCTTAGGGTGACTG -3'
(R):5'- CCGAAATGTCTCTCGCCATC -3'

Sequencing Primer
(F):5'- CACTCTTAGGGTGACTGGTGCC -3'
(R):5'- TCTCCAGCTGTGCAACAATG -3'

Posted On

2017-10-10