Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Tbc1d15'

228866

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d15

Ensembl Gene

ENSMUSG00000020130

Gene Name

TBC1 domain family, member 15

Synonyms

Ly6dl, 4432405K22Rik

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

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

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115197872-115251467 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115229173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 169 (D169G)

Ref Sequence

ENSEMBL: ENSMUSP00000020339 (fasta)

Gene Model

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

AlphaFold

Q9CXF4

Predicted Effect

probably benign
Transcript: ENSMUST00000020339
AA Change: D169G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020339
Gene: ENSMUSG00000020130
AA Change: D169G

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca15	A	T	7: 120,360,904	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,561,469	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
AI467606	A	G	7: 127,092,837	S195G	probably damaging	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Cic	T	A	7: 25,273,451	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,983,463	D118G	probably damaging	Het
Csnk1g1	A	G	9: 66,002,230	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,786,780	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,433,503	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,951,909	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Elavl2	A	T	4: 91,253,450	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,274,955	S259G	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Faim2	G	A	15: 99,514,433	T140I	probably damaging	Het
Fbxo21	T	C	5: 117,976,966	S56P	probably benign	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Foxj2	A	T	6: 122,840,241	H509L	probably benign	Het
Fth1	T	A	19: 9,984,212	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,328,584	E220*	probably null	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm1527	C	A	3: 28,926,647	T632N	probably benign	Het
Gm4787	A	T	12: 81,378,920	S155T	probably benign	Het
Gm9573	T	A	17: 35,621,405		probably benign	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Helb	T	C	10: 120,105,766	Y339C	probably benign	Het
Hs3st4	A	G	7: 124,397,013	I301V	probably benign	Het
Hunk	A	G	16: 90,493,480	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il10	T	C	1: 131,020,033	L41P	probably damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt90	T	C	15: 101,558,359	E263G	probably benign	Het
Lama2	C	T	10: 27,164,926	C1467Y	probably damaging	Het
Med24	A	G	11: 98,715,646	L330P	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mtcl1	T	C	17: 66,346,355	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,240,361	G38D	probably damaging	Het
Mtus1	T	C	8: 41,082,708	E657G	probably damaging	Het
Myo5c	A	T	9: 75,281,868	Q1020L	probably benign	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,570,150	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,161,086	N1012D	probably benign	Het
Ntrk2	A	C	13: 58,859,297	K238Q	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr667	T	C	7: 104,916,775	N174D	probably benign	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pfpl	C	T	19: 12,429,873	S496L	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,550,752	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,840,676	N678S	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Polr1a	T	G	6: 71,936,285		probably null	Het
Prl3d3	A	C	13: 27,162,321	E180D	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,844,239	D383E	probably benign	Het
Psmc4	A	T	7: 28,048,897	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Rasl12	G	A	9: 65,410,824	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098	V83G	probably damaging	Het
Rnls	A	C	19: 33,202,544	S51A	probably benign	Het
Siglecf	A	G	7: 43,352,380	T205A	possibly damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc12a5	C	T	2: 164,997,147	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871		probably benign	Het
Specc1	T	G	11: 62,118,296	S293A	probably benign	Het
Speer2	T	G	16: 69,860,497	Q86P	probably benign	Het
Tbx20	C	A	9: 24,769,771	E142*	probably null	Het
Tcp1	T	A	17: 12,920,812	L199H	probably damaging	Het
Tex26	A	T	5: 149,439,739	R5W	probably damaging	Het
Tg	C	A	15: 66,828,553	A120E	probably damaging	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tmem57	A	T	4: 134,828,279	N294K	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ush1c	T	C	7: 46,229,481	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Vps54	C	T	11: 21,277,955	T176I	probably damaging	Het
Wdr95	T	C	5: 149,579,162		probably null	Het
Zfp81	T	C	17: 33,335,304	T179A	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
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'- AACTAAGTTGCTGACACCCC -3'
(R):5'- GGGTTAGACAGATAACTGCTGAGC -3'

Sequencing Primer
(F):5'- CACTGAGGCTCATGACAA -3'
(R):5'- GAAAGATATTTTGCCCCATCTTCTTG -3'

Posted On

2014-09-17