Mutagenetix > Incidental Mutation

Incidental Mutation 'R8839:Tbc1d16'

674331

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119143045-119228499 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119156648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 417 (R417C)

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: R417C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: R417C

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: R416C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,040	Y325H	probably damaging	Het
Ace3	T	C	11: 105,998,368	Y475H	probably damaging	Het
Ankfy1	T	C	11: 72,730,566	I226T	probably benign	Het
Anln	G	A	9: 22,356,172	S825L	probably benign	Het
B3galt4	A	G	17: 33,950,893	S124P	possibly damaging	Het
Cabin1	T	C	10: 75,656,816	I1882V	probably benign	Het
Caprin2	A	T	6: 148,873,027	S262R	probably benign	Het
Csmd2	A	C	4: 128,442,888	I1420L		Het
Cyp2b9	T	G	7: 26,200,760	V331G	probably damaging	Het
Cyp3a59	A	T	5: 146,109,086	M433L	probably benign	Het
Edrf1	A	G	7: 133,653,915	D597G	probably benign	Het
Emc3	G	A	6: 113,519,970	R147C	possibly damaging	Het
Fam172a	A	T	13: 77,999,662	H283L	probably benign	Het
Fkbp7	T	C	2: 76,667,237		probably benign	Het
Flii	T	C	11: 60,718,607	T665A	possibly damaging	Het
Fxr1	A	G	3: 34,046,682		probably benign	Het
Gpr37	T	G	6: 25,669,370	I492L	probably benign	Het
Hmg20b	A	C	10: 81,348,915	W108G	probably damaging	Het
Ighv9-3	G	A	12: 114,140,765	T93I	possibly damaging	Het
Inpp5a	T	C	7: 139,389,433	V15A	probably benign	Het
Inpp5d	T	A	1: 87,691,711	Y376N	probably damaging	Het
Ints6	A	G	14: 62,693,673	F854L	probably benign	Het
Ipo7	A	T	7: 110,042,016	K314N	probably damaging	Het
Ltn1	C	A	16: 87,418,502	C415F	probably damaging	Het
Mfsd9	T	C	1: 40,774,394	T254A	probably benign	Het
Musk	A	G	4: 58,286,151	T14A	probably benign	Het
Ncapd3	T	C	9: 27,094,434	V1438A		Het
Nnt	A	T	13: 119,357,637	V636D	unknown	Het
Olfr1338	A	G	4: 118,754,214	L110P	probably damaging	Het
Olfr629	A	G	7: 103,740,814	I142T	probably benign	Het
Olfr748	A	T	14: 50,710,500	T57S	possibly damaging	Het
Ost4	T	C	5: 30,907,591		probably benign	Het
Pdzph1	T	C	17: 58,950,242	T934A	probably benign	Het
Plekhn1	T	A	4: 156,222,589		probably benign	Het
Prkd1	T	C	12: 50,342,833		probably benign	Het
Ptch1	A	T	13: 63,541,224	L413Q	probably damaging	Het
S100pbp	A	G	4: 129,182,207		probably null	Het
Sec23a	T	C	12: 58,990,995	K361E	possibly damaging	Het
Sema3b	C	T	9: 107,601,353		probably benign	Het
Serpina3g	A	G	12: 104,237,779		probably benign	Het
Slc23a2	C	T	2: 132,101,472		silent	Het
Smug1	T	C	15: 103,155,820	R225G	possibly damaging	Het
Srbd1	T	A	17: 85,988,421	I854L	probably benign	Het
Tiam1	A	G	16: 89,884,939	Y384H	probably damaging	Het
Trappc9	T	A	15: 73,058,238	K90*	probably null	Het
Tubgcp6	A	T	15: 89,103,478	H1097Q	possibly damaging	Het
Ugt2b37	A	G	5: 87,254,556	L72P	probably damaging	Het
Vmn2r20	A	T	6: 123,396,556	H442Q	possibly damaging	Het
Vmn2r65	A	T	7: 84,946,281	Y398*	probably null	Het
Zfhx4	A	G	3: 5,401,855	T2383A	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
R0255:Tbc1d16	UTSW	11	119147575	missense	possibly damaging	0.94
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
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'- ATCCCCAAACTCTGCAATTGTC -3'
(R):5'- TGGCTTTGACATTCTGGGAAC -3'

Sequencing Primer
(F):5'- CTTTTCAATGAAGCTGCCTGG -3'
(R):5'- AACAGCGTCTCAGGCTTC -3'

Posted On

2021-07-15