Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Tbc1d15'

294501

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

115197872-115251467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115229206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 158 (V158D)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020339]

AlphaFold

Q9CXF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020339
AA Change: V158D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: V158D

Domain	Start	End	E-Value	Type
Pfam:DUF3548	6	224	1.3e-87	PFAM
TBC	326	564	1.14e-50	SMART
Blast:TBC	602	671	5e-23	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219274

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Tbc1d15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Tbc1d15	APN	10	115209641	nonsense	probably null
IGL01161:Tbc1d15	APN	10	115202530	missense	probably benign	0.01
IGL03145:Tbc1d15	APN	10	115202516	missense	probably benign	0.03
R0140:Tbc1d15	UTSW	10	115220219	missense	probably damaging	0.99
R0466:Tbc1d15	UTSW	10	115219172	missense	probably damaging	1.00
R0617:Tbc1d15	UTSW	10	115239299	missense	probably damaging	1.00
R0633:Tbc1d15	UTSW	10	115220310	missense	probably benign	0.00
R1526:Tbc1d15	UTSW	10	115203230	missense	probably benign	0.38
R1699:Tbc1d15	UTSW	10	115220314	missense	probably benign	0.05
R1727:Tbc1d15	UTSW	10	115210225	missense	probably damaging	1.00
R2063:Tbc1d15	UTSW	10	115229173	missense	probably benign
R2111:Tbc1d15	UTSW	10	115240914	missense	possibly damaging	0.88
R4751:Tbc1d15	UTSW	10	115202587	missense	probably damaging	1.00
R5318:Tbc1d15	UTSW	10	115208969	nonsense	probably null
R5480:Tbc1d15	UTSW	10	115233218	missense	probably damaging	1.00
R5746:Tbc1d15	UTSW	10	115210279	missense	probably damaging	1.00
R5891:Tbc1d15	UTSW	10	115220308	missense	probably benign	0.20
R6012:Tbc1d15	UTSW	10	115219207	missense	probably damaging	1.00
R6306:Tbc1d15	UTSW	10	115233243	missense	possibly damaging	0.91
R6989:Tbc1d15	UTSW	10	115209569	missense	probably damaging	1.00
R7792:Tbc1d15	UTSW	10	115221587	missense	possibly damaging	0.91
R8134:Tbc1d15	UTSW	10	115209569	missense	probably damaging	1.00
R8231:Tbc1d15	UTSW	10	115229140	missense	probably damaging	1.00
R8507:Tbc1d15	UTSW	10	115202502	critical splice donor site	probably null
R8682:Tbc1d15	UTSW	10	115210290	missense	probably benign	0.04
R9336:Tbc1d15	UTSW	10	115208961	missense	probably damaging	1.00

Posted On

2015-04-16