Mutagenetix > Incidental Mutations

Incidental Mutation 'R8839:Tbc1d16'

674331

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8839 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119143045-119228499 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119156648 bp

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

Allele List at MGI

Other mutations in this stock

Total: 44 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
Flii	T	C	11: 60,718,607	T665A	possibly damaging	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
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
Serpina3g	A	G	12: 104,237,779		probably benign	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

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