Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Tbc1d16'

564700

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119033871-119119325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119045921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 509 (V509L)

Ref Sequence

ENSEMBL: ENSMUSP00000048516 (fasta)

Gene Model

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

AlphaFold

A2ABG4

Predicted Effect

probably benign
Transcript: ENSMUST00000036113
AA Change: V509L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: V509L

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: ENSMUST00000207655
AA Change: V508L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	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
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
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'- TATCAAATAGATCGGGATGGCC -3'
(R):5'- AGCTATTCCAGGTCCAGTTGG -3'

Sequencing Primer
(F):5'- ATAGATCGGGATGGCCACCAC -3'
(R):5'- GTGTTACTGGCTCCCTGGC -3'

Posted On

2019-06-26