Mutagenetix > Incidental Mutation

Incidental Mutation 'R5480:Tbc1d15'

434272

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

043041-MU

Accession Numbers

Essential gene?

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

Stock #

R5480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115033777-115087372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115069123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 82 (E82G)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020339
AA Change: E82G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: E82G

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

Meta Mutation Damage Score

0.6514

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

97% (56/58)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh7	A	G	17: 57,306,131 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,482,979 (GRCm39)	L343S	probably damaging	Het
Btbd10	T	A	7: 112,915,914 (GRCm39)	R392W	probably damaging	Het
Camkv	A	G	9: 107,824,074 (GRCm39)	D216G	probably damaging	Het
Col22a1	T	C	15: 71,836,460 (GRCm39)	D525G	probably damaging	Het
Dqx1	A	T	6: 83,041,784 (GRCm39)	D542V	probably damaging	Het
Epha8	T	C	4: 136,662,441 (GRCm39)	T539A	probably benign	Het
Faap100	T	C	11: 120,267,939 (GRCm39)	E278G	probably damaging	Het
Fat2	A	G	11: 55,200,912 (GRCm39)	S721P	probably damaging	Het
Fcgbpl1	T	A	7: 27,857,424 (GRCm39)	C2257*	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gfy	C	A	7: 44,826,657 (GRCm39)	V394F	probably benign	Het
Gipr	A	G	7: 18,894,579 (GRCm39)	L241P	probably damaging	Het
Gm5478	A	G	15: 101,552,100 (GRCm39)	S445P	probably damaging	Het
Ift140	G	T	17: 25,239,550 (GRCm39)	W69L	probably damaging	Het
Kat6a	T	A	8: 23,428,323 (GRCm39)	M1226K	possibly damaging	Het
Klk12	T	G	7: 43,420,482 (GRCm39)	H140Q	probably benign	Het
Map3k14	A	G	11: 103,130,330 (GRCm39)	F196L	probably benign	Het
Mblac2	T	A	13: 81,898,395 (GRCm39)	V257E	possibly damaging	Het
Pcdha11	A	G	18: 37,138,935 (GRCm39)	E188G	probably benign	Het
Pdzd7	T	C	19: 45,027,724 (GRCm39)	N250S	possibly damaging	Het
Phkb	A	G	8: 86,648,811 (GRCm39)	D209G	probably damaging	Het
Pigs	T	G	11: 78,219,901 (GRCm39)	I92S	possibly damaging	Het
Pigz	G	T	16: 31,763,439 (GRCm39)	G166C	probably damaging	Het
Pkd1l2	C	A	8: 117,757,388 (GRCm39)	R1550L	probably damaging	Het
Pkd2l1	A	G	19: 44,180,595 (GRCm39)	V40A	probably benign	Het
Plxna1	A	T	6: 89,301,616 (GRCm39)	M1470K	probably damaging	Het
Polq	T	A	16: 36,833,652 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,098,311 (GRCm39)	T1272A	possibly damaging	Het
Rfwd3	A	T	8: 112,000,464 (GRCm39)	D720E	probably damaging	Het
Rgs12	C	G	5: 35,123,455 (GRCm39)	Q413E	probably benign	Het
Rhobtb1	T	A	10: 69,106,563 (GRCm39)	V376D	possibly damaging	Het
Rrp8	C	T	7: 105,383,336 (GRCm39)	S310N	probably damaging	Het
S100a3	C	T	3: 90,509,591 (GRCm39)	L79F	probably damaging	Het
Setbp1	C	A	18: 78,901,278 (GRCm39)	M796I	probably damaging	Het
Sipa1	A	G	19: 5,709,658 (GRCm39)	L254P	possibly damaging	Het
Slc4a7	C	G	14: 14,782,138 (GRCm38)	H964Q	probably damaging	Het
Strc	G	T	2: 121,195,300 (GRCm39)	P1661Q	probably benign	Het
Taf5l	A	T	8: 124,736,559 (GRCm39)	V4E	possibly damaging	Het
Thada	A	G	17: 84,739,682 (GRCm39)	S858P	probably benign	Het
Ticrr	T	C	7: 79,310,557 (GRCm39)	V157A	probably damaging	Het
Trim21	T	C	7: 102,208,463 (GRCm39)	T419A	probably benign	Het
Vmn2r60	G	T	7: 41,785,154 (GRCm39)	W122L	probably damaging	Het
Vwa3b	C	A	1: 37,139,787 (GRCm39)	Y369*	probably null	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly 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
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
R6012:Tbc1d15	UTSW	10	115,055,112 (GRCm39)	missense	probably damaging	1.00
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'- TATGCACGCACATTAAGGAATC -3'
(R):5'- TGTTGATTGGCAGCCCTGAC -3'

Sequencing Primer
(F):5'- AGGAATCAGATCATCTTCGTGG -3'
(R):5'- CAGCCCTGACTGCAAAGAGTG -3'

Posted On

2016-10-06