Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Tbc1d16'

34701

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0255 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

119143045-119228499 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119147575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 764 (R764L)

Ref Sequence

ENSEMBL: ENSMUSP00000147182 (fasta)

Gene Model

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

AlphaFold

A2ABG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036113
AA Change: R765L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: R765L

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

noncoding transcript
Transcript: ENSMUST00000181119

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207655
AA Change: R764L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1556

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,045	F119S	probably damaging	Het
1810011H11Rik	A	G	14: 32,808,363	K83E	possibly damaging	Het
Abca13	C	A	11: 9,581,545	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,634,711	M1329K	probably damaging	Het
Aoah	A	T	13: 20,979,540	K338*	probably null	Het
Ascc3	A	T	10: 50,645,058	T416S	probably benign	Het
Baz2a	A	G	10: 128,114,639	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,508,503	N351S	probably benign	Het
Cacna1s	T	G	1: 136,118,806	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,995,657	D357G	unknown	Het
Ccna1	T	C	3: 55,050,628	E152G	probably damaging	Het
Cct4	A	G	11: 22,999,073	D273G	probably damaging	Het
Cd9	A	G	6: 125,463,740	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh7	T	C	1: 109,994,306	S43P	probably benign	Het
Cep95	G	A	11: 106,811,271	V365M	probably benign	Het
Ces1c	T	C	8: 93,127,524	T128A	probably benign	Het
Chil5	A	G	3: 106,019,267	V82A	probably damaging	Het
Clmn	T	C	12: 104,781,764	D508G	probably benign	Het
Cog8	A	T	8: 107,049,145		probably benign	Het
Cst3	A	T	2: 148,875,169	V70E	probably damaging	Het
Ctcf	A	G	8: 105,664,039	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,508,877	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,141,025	D6E	probably benign	Het
Dhx34	A	G	7: 16,205,992	V655A	probably benign	Het
Dock10	T	C	1: 80,605,876	Y203C	probably damaging	Het
Dok7	A	T	5: 35,064,334	D26V	probably damaging	Het
Epha8	G	A	4: 136,940,286	H295Y	probably damaging	Het
Esf1	A	G	2: 140,148,923		probably benign	Het
Fam83c	A	G	2: 155,829,752	S588P	probably benign	Het
Fat3	G	A	9: 15,969,706		probably benign	Het
Fhdc1	T	C	3: 84,453,510		probably benign	Het
Frmd4b	A	G	6: 97,308,086	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727	T394A	probably damaging	Het
Gbf1	A	G	19: 46,254,110		probably benign	Het
Glg1	G	T	8: 111,159,858	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,651,527		probably null	Het
Gm19345	T	C	7: 19,854,930		probably benign	Het
Gpr179	A	T	11: 97,336,066	D1754E	probably benign	Het
Hydin	A	G	8: 110,565,018	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,858,838	T16I	possibly damaging	Het
Insl5	A	G	4: 103,018,116	*146Q	probably null	Het
Iqce	A	T	5: 140,666,202	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 19,005,002	R189H	possibly damaging	Het
Itsn1	C	T	16: 91,806,090		probably benign	Het
Kansl3	A	T	1: 36,344,969	I724N	probably benign	Het
Kcna4	T	C	2: 107,296,562	I547T	probably damaging	Het
Klk1b4	A	T	7: 44,210,734	I91F	probably benign	Het
Lmbr1	A	G	5: 29,252,755	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,560,969	A150T	probably benign	Het
Lrrc2	A	G	9: 110,980,898	E334G	possibly damaging	Het
Lrrc7	G	A	3: 158,160,838	Q1077*	probably null	Het
Mapk8	A	T	14: 33,387,307		probably benign	Het
Mast1	T	A	8: 84,912,021	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,719,618	A272S	probably damaging	Het
Myo15b	T	C	11: 115,886,283	Y912H	probably damaging	Het
Nf1	T	G	11: 79,408,699		probably null	Het
Nme7	T	A	1: 164,345,375	D218E	probably damaging	Het
Nsun7	T	A	5: 66,289,408		probably benign	Het
Nxpe2	A	G	9: 48,340,570		probably null	Het
Olfr135	T	G	17: 38,208,395	I50R	probably benign	Het
Olfr394	A	G	11: 73,887,829	V181A	probably benign	Het
Olfr473	T	A	7: 107,934,168	V216D	probably damaging	Het
Olfr698	G	A	7: 106,752,989	T133I	probably benign	Het
P2ry1	T	C	3: 61,003,530	V30A	probably benign	Het
Pgm1	T	A	5: 64,112,043	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 109,638,754	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,512,363	S18T	probably benign	Het
Ppp1r32	C	T	19: 10,475,054	R364Q	probably damaging	Het
Pqlc1	C	T	18: 80,263,518	A101V	probably benign	Het
Prg4	C	T	1: 150,455,807		probably benign	Het
Prkab2	T	A	3: 97,667,412	Y241*	probably null	Het
Prmt7	A	G	8: 106,227,207		probably benign	Het
Proser3	T	A	7: 30,546,417	R80W	probably damaging	Het
Prr12	A	G	7: 45,049,991		probably benign	Het
Psmd1	A	T	1: 86,078,582	L223F	probably damaging	Het
Rab13	A	G	3: 90,223,781		probably benign	Het
Rgl1	C	T	1: 152,552,596	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954	V1036A	probably damaging	Het
Sae1	T	A	7: 16,370,322	K121*	probably null	Het
Sap130	C	T	18: 31,680,506	P539S	probably damaging	Het
Scube2	A	G	7: 109,824,872	L475P	probably damaging	Het
Sec16a	T	C	2: 26,431,186	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,038,020	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,904,334	Y202*	probably null	Het
Shprh	T	A	10: 11,186,391	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,609,865	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,843,912		probably benign	Het
Slc46a1	T	C	11: 78,470,799	F424L	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,664,621	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,554,300	S343T	probably benign	Het
Spcs3	C	A	8: 54,528,380	R60I	probably benign	Het
Ssfa2	T	A	2: 79,660,466	L976Q	probably damaging	Het
Tcaf2	A	T	6: 42,642,904	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,789,587	A750E	possibly damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tmx3	T	C	18: 90,540,006	I394T	probably damaging	Het
Trank1	G	A	9: 111,366,024	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,657,946		probably benign	Het
Tsen54	T	C	11: 115,815,408	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,031,934	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,984,334	M75L	probably benign	Het
Zc3h7a	T	C	16: 11,140,737	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,336,550	C187R	probably damaging	Het
Zfp692	G	A	11: 58,310,403		probably benign	Het
Zmiz1	G	A	14: 25,654,495		probably benign	Het

Other mutations in Tbc1d16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Tbc1d16	APN	11	119156075	missense	possibly damaging	0.69
IGL01973:Tbc1d16	APN	11	119156707	missense	probably benign	0.19
IGL02456:Tbc1d16	APN	11	119210546	missense	probably damaging	1.00
H8441:Tbc1d16	UTSW	11	119149014	nonsense	probably null
R0118:Tbc1d16	UTSW	11	119157816	missense	probably damaging	1.00
R0330:Tbc1d16	UTSW	11	119158729	critical splice donor site	probably null
R0620:Tbc1d16	UTSW	11	119209038	missense	probably benign	0.04
R1502:Tbc1d16	UTSW	11	119154004	missense	probably damaging	1.00
R1806:Tbc1d16	UTSW	11	119156101	missense	probably damaging	1.00
R2163:Tbc1d16	UTSW	11	119155078	splice site	probably benign
R2897:Tbc1d16	UTSW	11	119157828	missense	probably damaging	0.97
R2898:Tbc1d16	UTSW	11	119157828	missense	probably damaging	0.97
R4454:Tbc1d16	UTSW	11	119157873	missense	possibly damaging	0.86
R5193:Tbc1d16	UTSW	11	119158820	missense	probably benign	0.00
R5465:Tbc1d16	UTSW	11	119156059	missense	probably benign
R5478:Tbc1d16	UTSW	11	119155091	missense	probably benign	0.07
R5642:Tbc1d16	UTSW	11	119158791	missense	probably damaging	0.98
R5721:Tbc1d16	UTSW	11	119158730	critical splice donor site	probably null
R6195:Tbc1d16	UTSW	11	119210565	nonsense	probably null
R6233:Tbc1d16	UTSW	11	119210565	nonsense	probably null
R6596:Tbc1d16	UTSW	11	119157775	missense	probably damaging	1.00
R6932:Tbc1d16	UTSW	11	119208916	missense	probably damaging	1.00
R7023:Tbc1d16	UTSW	11	119158791	missense	probably damaging	0.98
R7262:Tbc1d16	UTSW	11	119155095	missense	probably benign	0.00
R8006:Tbc1d16	UTSW	11	119156072	missense	probably damaging	0.96
R8506:Tbc1d16	UTSW	11	119148958	missense	probably damaging	0.98
R8532:Tbc1d16	UTSW	11	119155167	missense	probably benign	0.11
R8753:Tbc1d16	UTSW	11	119210666	missense	probably damaging	1.00
R8839:Tbc1d16	UTSW	11	119156648	missense	probably damaging	0.99
R9049:Tbc1d16	UTSW	11	119209264	missense	probably damaging	1.00
R9104:Tbc1d16	UTSW	11	119147800	missense	probably damaging	1.00
R9378:Tbc1d16	UTSW	11	119208840	missense	probably damaging	1.00
R9461:Tbc1d16	UTSW	11	119153955	missense	probably damaging	1.00
R9498:Tbc1d16	UTSW	11	119157855	missense	probably damaging	0.98
R9544:Tbc1d16	UTSW	11	119210509	missense	probably damaging	1.00
R9588:Tbc1d16	UTSW	11	119210509	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCACTCAGACAACAATCCTGC -3'
(R):5'- AGCCTCCATGACCTGTGTAAGCTG -3'

Sequencing Primer
(F):5'- TAGCCTTTCAGGAGCTGAAC -3'
(R):5'- TAAGCTGTGTGGGACAGGC -3'

Posted On

2013-05-09