Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Tbc1d15'

22265

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R0140 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

115197872-115251467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115220219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 283 (I283F)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020339
AA Change: I283F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: I283F

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

Meta Mutation Damage Score

0.3782

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
9330161L09Rik	T	C	12: 103,407,328		probably benign	Het
Abca2	T	G	2: 25,438,085		probably null	Het
Adgrf3	T	C	5: 30,196,381	K13R	probably benign	Het
Arhgap15	C	A	2: 44,322,767	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,448,245	T746R	probably benign	Het
Aspm	C	T	1: 139,480,641	T2422I	probably benign	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
AY358078	T	A	14: 51,825,942	D348E	probably benign	Het
Blnk	A	T	19: 40,940,224	S285T	probably damaging	Het
Calr3	C	T	8: 72,434,888		probably benign	Het
Camsap2	A	T	1: 136,280,382	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,264,299	G1122S	probably benign	Het
Ccdc69	C	A	11: 55,050,499	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,080,413	N141T	probably benign	Het
Cdk4	T	C	10: 127,064,345	V37A	probably damaging	Het
Celsr2	C	T	3: 108,397,933	R2110K	probably benign	Het
Clcn7	A	G	17: 25,153,754	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,702,275	F1917S	probably damaging	Het
Cps1	T	G	1: 67,180,116	S872A	probably benign	Het
Crebbp	G	T	16: 4,117,499	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,492,483	V234I	probably benign	Het
Fam227b	T	C	2: 126,124,603	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,605,414	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,608,184	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,127,427		probably benign	Het
Hrnr	C	T	3: 93,331,493	Q3013*	probably null	Het
Il12rb1	T	C	8: 70,819,771		probably benign	Het
Lepr	A	T	4: 101,768,067	D473V	probably damaging	Het
Myof	A	T	19: 37,951,556	Y820*	probably null	Het
Nfil3	G	A	13: 52,967,645	Q408*	probably null	Het
Nolc1	G	A	19: 46,081,378		probably benign	Het
Npbwr1	A	C	1: 5,916,621	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,761,815		probably benign	Het
Ntrk1	A	C	3: 87,778,568	L749R	probably damaging	Het
Olfr1115	A	G	2: 87,252,625	I229M	probably damaging	Het
Olfr1261	T	A	2: 89,994,119	V242D	probably damaging	Het
Olfr222	A	G	11: 59,570,978	L254P	probably damaging	Het
Olfr628	A	G	7: 103,732,142	D72G	probably damaging	Het
Olfr801	G	T	10: 129,669,688	T277N	probably damaging	Het
Paox	A	T	7: 140,134,058	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,402,961	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,258,083		probably null	Het
Phkg1	T	A	5: 129,864,608	I334F	probably benign	Het
Phtf1	A	T	3: 103,987,560	R208W	probably null	Het
Pnliprp2	A	T	19: 58,766,363	I280F	probably benign	Het
Pnmal1	A	G	7: 16,960,222	M1V	probably null	Het
Prcp	A	G	7: 92,928,611	T328A	probably damaging	Het
Pxdn	A	G	12: 29,982,754	E179G	probably benign	Het
Racgap1	A	T	15: 99,623,651	N541K	probably benign	Het
Rnf103	T	A	6: 71,509,331	F315L	possibly damaging	Het
Sept2	A	G	1: 93,501,639	R237G	probably damaging	Het
Setd6	T	A	8: 95,716,109	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,396,200	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,672,704		probably benign	Het
Slk	G	A	19: 47,622,335	D815N	probably damaging	Het
Stx1a	T	C	5: 135,045,585		probably benign	Het
Tenm4	T	C	7: 96,896,052	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,120,185	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,766,251		probably benign	Het
Tmem268	G	A	4: 63,577,859	R179H	possibly damaging	Het
Tmem9	A	G	1: 136,034,162	K165R	probably damaging	Het
Trpm6	A	G	19: 18,819,194		probably null	Het
Tufm	C	T	7: 126,489,831	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,193,289	I216T	probably damaging	Het
Urad	T	G	5: 147,322,331	M1L	probably benign	Het
Utp6	A	G	11: 79,956,725		probably benign	Het
Vav2	C	T	2: 27,273,676		probably benign	Het
Vmn2r55	G	T	7: 12,668,177	Q395K	possibly damaging	Het
Wwox	T	G	8: 114,706,287	V231G	probably damaging	Het
Zfp646	T	A	7: 127,883,506	N1618K	probably benign	Het
Zzef1	G	A	11: 72,899,551	M2110I	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTTCTGCGCTCCACAAAACAACTG -3'
(R):5'- TTCACCACTGGAGAGTAAGCCCTG -3'

Sequencing Primer
(F):5'- CAAAACAACTGCCAGAAGATGAG -3'
(R):5'- AGAGTAAGCCCTGTGTGCATTC -3'

Posted On

2013-04-16