Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Tbc1d15'

58093

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R0633 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115197872-115251467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115220310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 252 (H252Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably benign
Transcript: ENSMUST00000020339
AA Change: H252Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: H252Q

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: ENSMUST00000217843

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,325,701	I82L	probably benign	Het
4921530L21Rik	T	G	14: 95,881,943	N45K	probably damaging	Het
4933408B17Rik	A	G	18: 34,586,266	V167A	possibly damaging	Het
Adamts8	A	T	9: 30,943,511	R18S	probably damaging	Het
Adgb	G	A	10: 10,391,729	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,400,222	V416A	probably damaging	Het
Alox5	C	T	6: 116,420,384	G280R	probably damaging	Het
Anapc5	A	T	5: 122,800,632	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,558,963	V685I	probably damaging	Het
Apc2	C	A	10: 80,307,455	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,855,387	W1170*	probably null	Het
Atat1	G	A	17: 35,901,423	R305C	probably damaging	Het
Cars2	T	C	8: 11,550,511	D56G	probably benign	Het
Cdc42bpb	T	C	12: 111,345,555	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,980	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,550,743	L148P	probably damaging	Het
Cntn4	A	G	6: 106,679,248		probably null	Het
Cpe	G	A	8: 64,609,203	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,531,782	D19G	probably benign	Het
Ddx25	C	A	9: 35,545,972	R349L	probably damaging	Het
Depdc7	T	C	2: 104,722,881	D446G	probably benign	Het
Det1	T	A	7: 78,843,935	N107I	probably benign	Het
Dock6	A	T	9: 21,844,417	D170E	probably benign	Het
Dvl1	C	T	4: 155,858,295	L673F	probably damaging	Het
Gucy1b1	A	T	3: 82,045,460	I222K	probably benign	Het
Hfm1	T	C	5: 106,917,601	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,769,223	E310G	probably damaging	Het
Impg1	T	C	9: 80,394,155	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,374,456	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,490,256	G360D	probably benign	Het
Kif14	C	T	1: 136,527,305	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,302,685	H568Q	unknown	Het
Lgi2	A	G	5: 52,554,460	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,081,991	Y225S	probably benign	Het
Lpin3	A	G	2: 160,903,974	H675R	probably damaging	Het
Lrp2	C	A	2: 69,448,120	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,684,575	D13E	possibly damaging	Het
Map1a	T	C	2: 121,308,014	V2753A	probably damaging	Het
Mitf	C	A	6: 98,003,904	N97K	probably damaging	Het
Msh2	A	G	17: 87,672,810		probably null	Het
Msr1	T	C	8: 39,620,000	E170G	probably damaging	Het
Myrip	C	A	9: 120,388,236	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782		probably null	Het
Neto1	C	T	18: 86,404,729	R104*	probably null	Het
Nom1	A	C	5: 29,451,100	K821T	probably damaging	Het
Nrxn1	A	G	17: 90,704,181	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,396,597	I334F	probably benign	Het
Olfr1043	T	A	2: 86,162,091	N286I	probably damaging	Het
Olfr1065	C	T	2: 86,445,129	M284I	probably benign	Het
Olfr1247	T	C	2: 89,609,374	M243V	probably benign	Het
Olfr1489	T	C	19: 13,633,336	V75A	probably damaging	Het
Olfr382	A	G	11: 73,516,927	S91P	probably benign	Het
Olfr705	T	C	7: 106,713,977	K235E	probably benign	Het
Padi4	A	G	4: 140,757,585	S322P	probably damaging	Het
Peli3	A	G	19: 4,941,782	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,907,903	S163P	probably damaging	Het
Prom2	T	C	2: 127,539,525	D227G	probably benign	Het
Ptgfr	C	T	3: 151,801,763	R321H	probably benign	Het
Rgs3	G	A	4: 62,625,906	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,844,107	N3T	possibly damaging	Het
Rif1	T	C	2: 52,112,563	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690	F408L	probably damaging	Het
Rtn3	T	G	19: 7,457,593	T326P	probably benign	Het
Slc18b1	A	C	10: 23,806,038	M167L	probably benign	Het
Slc22a26	A	G	19: 7,788,210		probably null	Het
Slitrk6	T	C	14: 110,751,885	D130G	probably damaging	Het
Snap47	A	G	11: 59,428,613	V233A	probably benign	Het
Sumf1	A	C	6: 108,144,671	Y158D	probably damaging	Het
Thsd7b	T	C	1: 130,188,526	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 57,049,414	I56V	probably benign	Het
Ttc21b	A	G	2: 66,236,233	S359P	probably benign	Het
Ttc27	T	C	17: 74,729,977	I215T	probably benign	Het
Ttn	C	T	2: 76,724,195	V30759I	possibly damaging	Het
Vdac3	T	C	8: 22,580,388	N168S	probably damaging	Het
Wdr7	T	C	18: 63,865,300	V1106A	probably benign	Het
Wrap73	T	A	4: 154,142,491	F16Y	probably damaging	Het
Zfat	C	A	15: 68,180,803	D381Y	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
IGL02458:Tbc1d15	APN	10	115229206	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTCTACTGCAACGCCAAGAC -3'
(R):5'- GAGAGTAAGCCCTGTGTGCATTCTG -3'

Sequencing Primer
(F):5'- GCCAAGACCTAGACCACTTTAGTC -3'
(R):5'- CAATCAGTAGCATTGATTTGTCGTC -3'

Posted On

2013-07-11