Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Tbc1d16'

58615

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119033871-119119325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119099864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 170 (D170V)

Ref Sequence

ENSEMBL: ENSMUSP00000147182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036113] [ENSMUST00000125856] [ENSMUST00000207655]

AlphaFold

A2ABG4

Predicted Effect

probably benign
Transcript: ENSMUST00000036113
AA Change: D170V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: D170V

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
Blast:TBC	63	362	5e-75	BLAST
Blast:TBC	373	418	2e-13	BLAST
TBC	421	659	4.39e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125856

Predicted Effect

probably benign
Transcript: ENSMUST00000207655
AA Change: D170V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in Tbc1d16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Tbc1d16	APN	11	119,046,901 (GRCm39)	missense	possibly damaging	0.69
IGL01973:Tbc1d16	APN	11	119,047,533 (GRCm39)	missense	probably benign	0.19
IGL02456:Tbc1d16	APN	11	119,101,372 (GRCm39)	missense	probably damaging	1.00
H8441:Tbc1d16	UTSW	11	119,039,840 (GRCm39)	nonsense	probably null
R0118:Tbc1d16	UTSW	11	119,048,642 (GRCm39)	missense	probably damaging	1.00
R0255:Tbc1d16	UTSW	11	119,038,401 (GRCm39)	missense	possibly damaging	0.94
R0330:Tbc1d16	UTSW	11	119,049,555 (GRCm39)	critical splice donor site	probably null
R1502:Tbc1d16	UTSW	11	119,044,830 (GRCm39)	missense	probably damaging	1.00
R1806:Tbc1d16	UTSW	11	119,046,927 (GRCm39)	missense	probably damaging	1.00
R2163:Tbc1d16	UTSW	11	119,045,904 (GRCm39)	splice site	probably benign
R2897:Tbc1d16	UTSW	11	119,048,654 (GRCm39)	missense	probably damaging	0.97
R2898:Tbc1d16	UTSW	11	119,048,654 (GRCm39)	missense	probably damaging	0.97
R4454:Tbc1d16	UTSW	11	119,048,699 (GRCm39)	missense	possibly damaging	0.86
R5193:Tbc1d16	UTSW	11	119,049,646 (GRCm39)	missense	probably benign	0.00
R5465:Tbc1d16	UTSW	11	119,046,885 (GRCm39)	missense	probably benign
R5478:Tbc1d16	UTSW	11	119,045,917 (GRCm39)	missense	probably benign	0.07
R5642:Tbc1d16	UTSW	11	119,049,617 (GRCm39)	missense	probably damaging	0.98
R5721:Tbc1d16	UTSW	11	119,049,556 (GRCm39)	critical splice donor site	probably null
R6195:Tbc1d16	UTSW	11	119,101,391 (GRCm39)	nonsense	probably null
R6233:Tbc1d16	UTSW	11	119,101,391 (GRCm39)	nonsense	probably null
R6596:Tbc1d16	UTSW	11	119,048,601 (GRCm39)	missense	probably damaging	1.00
R6932:Tbc1d16	UTSW	11	119,099,742 (GRCm39)	missense	probably damaging	1.00
R7023:Tbc1d16	UTSW	11	119,049,617 (GRCm39)	missense	probably damaging	0.98
R7262:Tbc1d16	UTSW	11	119,045,921 (GRCm39)	missense	probably benign	0.00
R8006:Tbc1d16	UTSW	11	119,046,898 (GRCm39)	missense	probably damaging	0.96
R8506:Tbc1d16	UTSW	11	119,039,784 (GRCm39)	missense	probably damaging	0.98
R8532:Tbc1d16	UTSW	11	119,045,993 (GRCm39)	missense	probably benign	0.11
R8753:Tbc1d16	UTSW	11	119,101,492 (GRCm39)	missense	probably damaging	1.00
R8839:Tbc1d16	UTSW	11	119,047,474 (GRCm39)	missense	probably damaging	0.99
R9049:Tbc1d16	UTSW	11	119,100,090 (GRCm39)	missense	probably damaging	1.00
R9104:Tbc1d16	UTSW	11	119,038,626 (GRCm39)	missense	probably damaging	1.00
R9378:Tbc1d16	UTSW	11	119,099,666 (GRCm39)	missense	probably damaging	1.00
R9461:Tbc1d16	UTSW	11	119,044,781 (GRCm39)	missense	probably damaging	1.00
R9498:Tbc1d16	UTSW	11	119,048,681 (GRCm39)	missense	probably damaging	0.98
R9544:Tbc1d16	UTSW	11	119,101,335 (GRCm39)	missense	probably damaging	1.00
R9588:Tbc1d16	UTSW	11	119,101,335 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGAGTCAAAGGAGCTATCCCTG -3'
(R):5'- AGACCCAAGTGCTATCCATCTGCC -3'

Sequencing Primer
(F):5'- AGGAGCTATCCCTGCTCAC -3'
(R):5'- CATGTATCTGGGATGCCACCTG -3'

Posted On

2013-07-11