Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Tbc1d16'

616644

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119033871-119119325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119046898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 451 (E451K)

Ref Sequence

ENSEMBL: ENSMUSP00000048516 (fasta)

Gene Model

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

AlphaFold

A2ABG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000036113
AA Change: E451K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: E451K

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 damaging
Transcript: ENSMUST00000207655
AA Change: E450K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,944 (GRCm39)	H351Q	probably benign	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,229,444 (GRCm39)	S126P	probably damaging	Het
Akip1	A	G	7: 109,303,199 (GRCm39)	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,781,772 (GRCm39)	R287G		Het
Ankrd13a	A	C	5: 114,942,484 (GRCm39)	*589S	probably null	Het
Ankrd34c	T	C	9: 89,611,889 (GRCm39)	I151V	probably damaging	Het
Ano5	T	A	7: 51,243,518 (GRCm39)	D880E	probably benign	Het
Arl3	A	C	19: 46,546,813 (GRCm39)	L4R	probably damaging	Het
Ate1	T	A	7: 130,069,118 (GRCm39)	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr3	C	T	9: 108,706,306 (GRCm39)	P930S	probably damaging	Het
Cfhr4	A	G	1: 139,664,590 (GRCm39)	Y490H	probably damaging	Het
Cox18	C	T	5: 90,371,672 (GRCm39)	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,417,790 (GRCm39)	K176R	probably benign	Het
Fam135b	T	C	15: 71,334,183 (GRCm39)	T1004A	probably benign	Het
Fam227a	A	G	15: 79,518,299 (GRCm39)	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,637,669 (GRCm39)	I248V	probably benign	Het
Gm6871	T	C	7: 41,195,106 (GRCm39)	T544A	probably benign	Het
Grm6	A	T	11: 50,755,484 (GRCm39)	*872L	probably null	Het
Herc1	T	A	9: 66,352,842 (GRCm39)	Y2109*	probably null	Het
Hsd11b2	T	A	8: 106,245,735 (GRCm39)	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,556,322 (GRCm39)	V721A	possibly damaging	Het
Jade1	A	T	3: 41,568,124 (GRCm39)	I731L	probably benign	Het
Khnyn	G	A	14: 56,125,047 (GRCm39)	V434I	probably benign	Het
Lrp1	A	G	10: 127,425,488 (GRCm39)	L714P	probably damaging	Het
Lrrc41	G	A	4: 115,952,085 (GRCm39)	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,004,673 (GRCm39)	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,444,393 (GRCm39)	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,985 (GRCm39)	R387C	probably damaging	Het
Mro	A	T	18: 74,010,577 (GRCm39)	D219V	possibly damaging	Het
Myot	T	A	18: 44,487,904 (GRCm39)	L407Q	probably damaging	Het
Nppa	T	A	4: 148,085,638 (GRCm39)	W82R	probably damaging	Het
Or10g6	T	G	9: 39,933,770 (GRCm39)	L27R	probably damaging	Het
Or52a20	T	A	7: 103,366,532 (GRCm39)	C244S	probably damaging	Het
Or5ak24	T	C	2: 85,260,318 (GRCm39)	N285S	probably damaging	Het
Phip	T	A	9: 82,772,179 (GRCm39)	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,661,831 (GRCm39)	I695T	probably benign	Het
Ppp1r10	A	T	17: 36,239,158 (GRCm39)	M347L	probably benign	Het
Reln	A	T	5: 22,104,082 (GRCm39)	C3296*	probably null	Het
Semp2l1	T	A	1: 32,586,005 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,930,756 (GRCm39)	L611Q	probably damaging	Het
Spire1	G	A	18: 67,634,251 (GRCm39)	Q396*	probably null	Het
Taf2	A	G	15: 54,912,097 (GRCm39)	F537L	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem267	T	A	13: 120,070,774 (GRCm39)	V143E	probably damaging	Het
Tyw1	C	T	5: 130,296,913 (GRCm39)	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993 (GRCm39)	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wnk4	A	G	11: 101,159,182 (GRCm39)	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174 (GRCm39)	C331S	probably benign	Het
Zik1	A	T	7: 10,224,100 (GRCm39)	C332*	probably null	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
R0620:Tbc1d16	UTSW	11	119,099,864 (GRCm39)	missense	probably benign	0.04
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
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'- GTAGTGACTGCCCTTATCCTG -3'
(R):5'- TGAATCGAGGCTCGCCAAAG -3'

Sequencing Primer
(F):5'- GCCCTTATCCTGCCAATGGTG -3'
(R):5'- AGGCTCGCCAAAGGACCC -3'

Posted On

2020-01-23