Mutagenetix > Incidental Mutation

Incidental Mutation 'R6012:Tbc1d15'

479821

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

044188-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R6012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115033777-115087372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115055112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 310 (D310G)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020339
AA Change: D310G

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

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: D310G

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

0.7423

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

100% (55/55)

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
Abat	T	A	16: 8,400,691 (GRCm39)	Y97N	probably damaging	Het
Adrm1b	C	A	3: 92,336,791 (GRCm39)		probably null	Het
Akr1b10	A	T	6: 34,364,715 (GRCm39)	I59F	probably damaging	Het
Als2	A	T	1: 59,224,374 (GRCm39)	D1076E	probably damaging	Het
Bank1	T	C	3: 135,919,598 (GRCm39)	D266G	probably benign	Het
Bmp2k	T	A	5: 97,211,467 (GRCm39)		probably null	Het
Cdc42bpa	A	G	1: 179,892,655 (GRCm39)	Y273C	probably damaging	Het
Chfr	G	T	5: 110,292,517 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,909,476 (GRCm39)	Q1363L	probably benign	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Ect2	T	C	3: 27,152,474 (GRCm39)		probably benign	Het
Efcab10	A	C	12: 33,448,592 (GRCm39)	D107A	probably damaging	Het
Fcgr4	G	A	1: 170,853,233 (GRCm39)	G146D	possibly damaging	Het
Fgd5	A	G	6: 91,966,322 (GRCm39)	T694A	possibly damaging	Het
Ghr	T	C	15: 3,370,409 (GRCm39)	D152G	probably damaging	Het
Gli2	A	C	1: 118,765,445 (GRCm39)	L902R	probably damaging	Het
Glis2	G	A	16: 4,429,172 (GRCm39)	G125D	possibly damaging	Het
Gmcl1	A	G	6: 86,698,394 (GRCm39)	Y168H	probably damaging	Het
Golga4	A	G	9: 118,388,764 (GRCm39)	K1962R	possibly damaging	Het
Hebp1	T	A	6: 135,145,055 (GRCm39)	E14V	probably damaging	Het
Hhla1	A	C	15: 65,820,339 (GRCm39)	I137S	probably damaging	Het
Hivep1	A	G	13: 42,337,934 (GRCm39)	H2671R	possibly damaging	Het
Hltf	A	G	3: 20,113,098 (GRCm39)	Y19C	probably damaging	Het
Hsd3b2	A	T	3: 98,619,333 (GRCm39)	M204K	probably benign	Het
Hspa4l	A	T	3: 40,736,031 (GRCm39)	I551F	probably benign	Het
Itpkc	A	T	7: 26,927,490 (GRCm39)	D141E	probably damaging	Het
Kcnc3	A	G	7: 44,248,296 (GRCm39)	D757G	probably benign	Het
Mettl16	A	T	11: 74,678,474 (GRCm39)	Y141F	probably damaging	Het
Mfng	G	A	15: 78,640,840 (GRCm39)	R302C	probably damaging	Het
Mogs	T	A	6: 83,094,363 (GRCm39)	S393R	probably damaging	Het
Mrps28	A	G	3: 8,965,044 (GRCm39)		probably null	Het
Nfat5	T	C	8: 108,093,765 (GRCm39)	S150P	probably benign	Het
Or2w1	T	C	13: 21,316,978 (GRCm39)	V11A	probably benign	Het
Or7d10	A	T	9: 19,832,237 (GRCm39)	H244L	probably damaging	Het
Pcdh12	A	G	18: 38,416,805 (GRCm39)	S107P	probably damaging	Het
Phf21a	G	A	2: 92,182,120 (GRCm39)	D463N	probably damaging	Het
Picalm	A	C	7: 89,844,908 (GRCm39)	I567L	probably benign	Het
Pla2g4a	T	A	1: 149,808,428 (GRCm39)	D5V	possibly damaging	Het
Sspo	C	T	6: 48,428,305 (GRCm39)	T222M	probably benign	Het
Stard9	T	C	2: 120,535,067 (GRCm39)	S3775P	probably damaging	Het
Stk31	A	T	6: 49,446,243 (GRCm39)	D982V	probably damaging	Het
Tas2r113	C	T	6: 132,870,644 (GRCm39)	T224I	probably damaging	Het
Tcf12	G	T	9: 71,766,229 (GRCm39)	T468K	possibly damaging	Het
Tenm4	A	G	7: 96,171,640 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,172,542 (GRCm39)	Y1907H	possibly damaging	Het
Thsd7a	T	C	6: 12,379,388 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Trp53bp1	T	C	2: 121,087,083 (GRCm39)	Y191C	probably benign	Het
Ugcg	T	A	4: 59,220,272 (GRCm39)	I355N	probably damaging	Het
Vmn1r21	A	T	6: 57,820,891 (GRCm39)	D184E	probably damaging	Het
Vsig10l	T	A	7: 43,117,439 (GRCm39)	D575E	probably damaging	Het
Zan	G	A	5: 137,462,791 (GRCm39)	T796I	unknown	Het
Zfp639	A	G	3: 32,573,271 (GRCm39)	D61G	probably damaging	Het

Other mutations in Tbc1d15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Tbc1d15	APN	10	115,045,546 (GRCm39)	nonsense	probably null
IGL01161:Tbc1d15	APN	10	115,038,435 (GRCm39)	missense	probably benign	0.01
IGL02458:Tbc1d15	APN	10	115,065,111 (GRCm39)	missense	probably damaging	0.99
IGL03145:Tbc1d15	APN	10	115,038,421 (GRCm39)	missense	probably benign	0.03
R0140:Tbc1d15	UTSW	10	115,056,124 (GRCm39)	missense	probably damaging	0.99
R0466:Tbc1d15	UTSW	10	115,055,077 (GRCm39)	missense	probably damaging	1.00
R0617:Tbc1d15	UTSW	10	115,075,204 (GRCm39)	missense	probably damaging	1.00
R0633:Tbc1d15	UTSW	10	115,056,215 (GRCm39)	missense	probably benign	0.00
R1526:Tbc1d15	UTSW	10	115,039,135 (GRCm39)	missense	probably benign	0.38
R1699:Tbc1d15	UTSW	10	115,056,219 (GRCm39)	missense	probably benign	0.05
R1727:Tbc1d15	UTSW	10	115,046,130 (GRCm39)	missense	probably damaging	1.00
R2063:Tbc1d15	UTSW	10	115,065,078 (GRCm39)	missense	probably benign
R2111:Tbc1d15	UTSW	10	115,076,819 (GRCm39)	missense	possibly damaging	0.88
R4751:Tbc1d15	UTSW	10	115,038,492 (GRCm39)	missense	probably damaging	1.00
R5318:Tbc1d15	UTSW	10	115,044,874 (GRCm39)	nonsense	probably null
R5480:Tbc1d15	UTSW	10	115,069,123 (GRCm39)	missense	probably damaging	1.00
R5746:Tbc1d15	UTSW	10	115,046,184 (GRCm39)	missense	probably damaging	1.00
R5891:Tbc1d15	UTSW	10	115,056,213 (GRCm39)	missense	probably benign	0.20
R6306:Tbc1d15	UTSW	10	115,069,148 (GRCm39)	missense	possibly damaging	0.91
R6989:Tbc1d15	UTSW	10	115,045,474 (GRCm39)	missense	probably damaging	1.00
R7792:Tbc1d15	UTSW	10	115,057,492 (GRCm39)	missense	possibly damaging	0.91
R8134:Tbc1d15	UTSW	10	115,045,474 (GRCm39)	missense	probably damaging	1.00
R8231:Tbc1d15	UTSW	10	115,065,045 (GRCm39)	missense	probably damaging	1.00
R8507:Tbc1d15	UTSW	10	115,038,407 (GRCm39)	critical splice donor site	probably null
R8682:Tbc1d15	UTSW	10	115,046,195 (GRCm39)	missense	probably benign	0.04
R9336:Tbc1d15	UTSW	10	115,044,866 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACATCTGCAAACTCAGCAC -3'
(R):5'- ATGGAGGAGCAGTAACGCTC -3'

Sequencing Primer
(F):5'- GCACTCGGCACTGTAAGC -3'
(R):5'- CCTGCCTGAGAAACAGTGTCTTAG -3'

Posted On

2017-06-26