Mutagenetix > Incidental Mutation

Incidental Mutation 'R5318:Tbc1d15'

405935

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

042901-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R5318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115197872-115251467 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115208969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 509 (Y509*)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably null
Transcript: ENSMUST00000020339
AA Change: Y509*

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: Y509*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217886

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	A	17: 35,567,986	E74K	possibly damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Ankfn1	A	G	11: 89,391,928	S298P	probably damaging	Het
Arfgef2	A	C	2: 166,873,971	K1393N	probably damaging	Het
Atp4a	T	A	7: 30,715,329	V181E	probably damaging	Het
Bin3	A	G	14: 70,134,512	D134G	possibly damaging	Het
Cabs1	A	G	5: 87,980,566	T359A	possibly damaging	Het
Cblb	A	T	16: 52,186,198	K754N	possibly damaging	Het
Ccdc153	A	T	9: 44,245,765	R135*	probably null	Het
Cel	T	C	2: 28,557,708	E398G	possibly damaging	Het
Clip1	G	A	5: 123,613,084		probably benign	Het
Dnase2b	C	A	3: 146,582,455	R295L	probably benign	Het
Dnm3	G	A	1: 162,011,807	Q194*	probably null	Het
Dtx2	T	A	5: 136,012,100	S120T	possibly damaging	Het
Fat3	A	T	9: 16,376,629	S533T	probably damaging	Het
Foxred2	T	C	15: 77,952,398	I306V	probably benign	Het
Gdpd5	A	T	7: 99,453,027	T278S	probably benign	Het
Gli2	T	A	1: 118,844,470	T502S	probably damaging	Het
Gm10436	A	T	12: 88,176,228	C207S	probably benign	Het
Gm21830	A	T	2: 67,432,814		probably null	Het
Gm38394	A	G	1: 133,658,115	S495P	possibly damaging	Het
Gm5617	T	A	9: 48,495,911	I115N	possibly damaging	Het
Gpr75	G	T	11: 30,892,459	A455S	probably benign	Het
Grik3	A	G	4: 125,694,136	E683G	probably damaging	Het
Grin2b	T	C	6: 135,733,918	I877V	probably damaging	Het
Gsg1l2	G	T	11: 67,782,521	C109F	possibly damaging	Het
H2-Q4	G	A	17: 35,383,311	V341I	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kif5c	A	G	2: 49,671,828	K68R	probably benign	Het
Lct	T	A	1: 128,304,372	H580L	probably damaging	Het
Lrrtm4	A	G	6: 80,022,512	I302M	probably damaging	Het
Mef2b	A	T	8: 70,166,843	R228W	probably damaging	Het
Mtus2	T	A	5: 148,076,572	D58E	probably benign	Het
Myh15	T	G	16: 49,110,471	S603A	probably damaging	Het
Olfr26	C	T	9: 38,855,448	P129S	probably damaging	Het
Olfr283	A	G	15: 98,378,642	I156T	possibly damaging	Het
Olfr54	T	C	11: 51,027,593	V197A	probably benign	Het
P2rx4	G	A	5: 122,719,148	C149Y	probably null	Het
Proca1	T	A	11: 78,201,857	V43E	possibly damaging	Het
Rftn1	G	T	17: 49,994,458	N454K	probably benign	Het
Rrp15	T	C	1: 186,721,546	T235A	probably benign	Het
Serpina6	T	C	12: 103,653,962	E176G	possibly damaging	Het
Shprh	T	G	10: 11,166,557	I761M	probably benign	Het
Smg1	A	T	7: 118,160,204		probably benign	Het
Snupn	T	C	9: 56,957,061	S15P	probably damaging	Het
Tcf4	T	C	18: 69,465,430	V72A	probably benign	Het
Tdrd3	T	C	14: 87,477,463		probably null	Het
Tm9sf4	T	A	2: 153,187,656	V175D	probably benign	Het
Vmn1r201	T	C	13: 22,474,922	L102P	probably damaging	Het
Wdfy4	T	A	14: 33,078,343	N1788I	possibly damaging	Het
Xpc	A	C	6: 91,493,010	V744G	probably damaging	Het
Xrcc6	T	C	15: 82,037,507	F178L	probably damaging	Het
Zfyve26	A	G	12: 79,270,850	V1196A	probably benign	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
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
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'- CCAAGAGTTGCACCTAGAGC -3'
(R):5'- AAGTTACCCTGTACATTTCAGTTGC -3'

Sequencing Primer
(F):5'- GAGTTGCACCTAGAGCTATCAGC -3'
(R):5'- GTACATTTCAGTTGCTTCCTTGATTG -3'

Posted On

2016-07-22