Mutagenetix > Incidental Mutations

Incidental Mutation 'R7645:Tbc1d9'

590482

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

4933431N12Rik, C76116

MMRRC Submission

Accession Numbers

Genbank: NM_001111304.1, NM_027758.4

Is this an essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83165352-83272934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83242553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 490 (K490M)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393]

AlphaFold

Q3UYK3

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: K257M

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: K257M

Domain	Start	End	E-Value	Type
low complexity region	31	55	N/A	INTRINSIC
low complexity region	192	208	N/A	INTRINSIC
TBC	279	492	8.68e-56	SMART
Blast:TBC	500	587	5e-35	BLAST
PDB:1BJF\|B	579	703	3e-7	PDB
low complexity region	917	937	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093393
AA Change: K490M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: K490M

Domain	Start	End	E-Value	Type
low complexity region	31	55	N/A	INTRINSIC
GRAM	146	213	1.2e-25	SMART
low complexity region	267	278	N/A	INTRINSIC
GRAM	293	361	1.37e-20	SMART
low complexity region	425	441	N/A	INTRINSIC
TBC	512	725	8.68e-56	SMART
Blast:TBC	733	820	6e-35	BLAST
PDB:1BJF\|B	812	936	4e-7	PDB
low complexity region	1150	1170	N/A	INTRINSIC

Meta Mutation Damage Score

0.2066

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Esco2	T	C	14: 65,827,181	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	Het

Other mutations in Tbc1d9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tbc1d9	APN	8	83234162	missense	probably damaging	1.00
IGL01443:Tbc1d9	APN	8	83239931	missense	probably damaging	1.00
IGL01536:Tbc1d9	APN	8	83260992	missense	probably damaging	1.00
IGL01811:Tbc1d9	APN	8	83233678	missense	probably damaging	1.00
IGL02068:Tbc1d9	APN	8	83239868	missense	probably damaging	1.00
IGL02938:Tbc1d9	APN	8	83269067	splice site	probably benign
IGL02995:Tbc1d9	APN	8	83269059	critical splice donor site	probably null
IGL03127:Tbc1d9	APN	8	83249473	missense	probably damaging	1.00
IGL03128:Tbc1d9	APN	8	83166085	missense	probably benign	0.01
H9600:Tbc1d9	UTSW	8	83210461	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83234243	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83234243	missense	probably damaging	1.00
R0112:Tbc1d9	UTSW	8	83264837	splice site	probably benign
R0525:Tbc1d9	UTSW	8	83268985	missense	probably benign	0.08
R0528:Tbc1d9	UTSW	8	83210456	missense	probably damaging	1.00
R0737:Tbc1d9	UTSW	8	83259313	missense	probably damaging	1.00
R1144:Tbc1d9	UTSW	8	83236571	missense	possibly damaging	0.93
R1354:Tbc1d9	UTSW	8	83268981	critical splice acceptor site	probably null
R1551:Tbc1d9	UTSW	8	83266158	missense	probably benign	0.03
R1620:Tbc1d9	UTSW	8	83249595	missense	probably damaging	1.00
R1971:Tbc1d9	UTSW	8	83249510	missense	probably damaging	1.00
R1990:Tbc1d9	UTSW	8	83271303	missense	probably damaging	1.00
R2082:Tbc1d9	UTSW	8	83270987	missense	probably damaging	1.00
R2149:Tbc1d9	UTSW	8	83271449	missense	probably damaging	1.00
R2442:Tbc1d9	UTSW	8	83166076	start codon destroyed	probably null	0.08
R2920:Tbc1d9	UTSW	8	83210469	missense	probably benign	0.00
R3832:Tbc1d9	UTSW	8	83233663	missense	probably damaging	1.00
R3953:Tbc1d9	UTSW	8	83233532	missense	probably damaging	1.00
R3955:Tbc1d9	UTSW	8	83233532	missense	probably damaging	1.00
R3956:Tbc1d9	UTSW	8	83233532	missense	probably damaging	1.00
R3957:Tbc1d9	UTSW	8	83233532	missense	probably damaging	1.00
R4117:Tbc1d9	UTSW	8	83266147	missense	possibly damaging	0.93
R4467:Tbc1d9	UTSW	8	83210478	missense	probably damaging	1.00
R4533:Tbc1d9	UTSW	8	83270918	missense	probably damaging	1.00
R4568:Tbc1d9	UTSW	8	83271177	missense	probably benign	0.00
R4694:Tbc1d9	UTSW	8	83234246	missense	probably damaging	1.00
R4804:Tbc1d9	UTSW	8	83255925	critical splice donor site	probably null
R5056:Tbc1d9	UTSW	8	83269206	missense	probably benign
R5073:Tbc1d9	UTSW	8	83233547	missense	probably damaging	1.00
R5122:Tbc1d9	UTSW	8	83236543	missense	probably damaging	0.98
R5270:Tbc1d9	UTSW	8	83233654	missense	probably benign
R5618:Tbc1d9	UTSW	8	83242592	missense	probably damaging	1.00
R5738:Tbc1d9	UTSW	8	83271026	missense	probably benign
R5793:Tbc1d9	UTSW	8	83271440	missense	probably damaging	0.96
R5908:Tbc1d9	UTSW	8	83249545	missense	probably benign	0.05
R6258:Tbc1d9	UTSW	8	83210516	missense	probably damaging	1.00
R6584:Tbc1d9	UTSW	8	83261000	missense	probably damaging	0.98
R6888:Tbc1d9	UTSW	8	83271588	missense	possibly damaging	0.92
R6897:Tbc1d9	UTSW	8	83166180	missense	probably damaging	1.00
R6969:Tbc1d9	UTSW	8	83241542	missense	probably damaging	0.99
R7026:Tbc1d9	UTSW	8	83241563	missense	probably benign	0.06
R7072:Tbc1d9	UTSW	8	83264865	missense	probably damaging	0.97
R7099:Tbc1d9	UTSW	8	83254891	missense	probably damaging	1.00
R7138:Tbc1d9	UTSW	8	83210484	missense	probably damaging	1.00
R7172:Tbc1d9	UTSW	8	83254761	missense	probably damaging	0.96
R7267:Tbc1d9	UTSW	8	83271328	missense	probably damaging	1.00
R7371:Tbc1d9	UTSW	8	83271261	missense	probably damaging	0.96
R7457:Tbc1d9	UTSW	8	83236680	missense	probably damaging	0.99
R7552:Tbc1d9	UTSW	8	83239931	missense	probably damaging	1.00
R7728:Tbc1d9	UTSW	8	83259350	missense	probably damaging	0.99
R7804:Tbc1d9	UTSW	8	83236712	missense	possibly damaging	0.85
R7978:Tbc1d9	UTSW	8	83239954	missense	probably damaging	0.98
R8150:Tbc1d9	UTSW	8	83255890	missense	probably damaging	1.00
R8325:Tbc1d9	UTSW	8	83240038	critical splice donor site	probably null
R8940:Tbc1d9	UTSW	8	83254823	missense	probably damaging	1.00
R8995:Tbc1d9	UTSW	8	83271551	missense	probably benign
R9075:Tbc1d9	UTSW	8	83255872	missense	probably benign	0.06
R9291:Tbc1d9	UTSW	8	83261121	missense	probably damaging	1.00
R9335:Tbc1d9	UTSW	8	83210531	missense	possibly damaging	0.86
X0062:Tbc1d9	UTSW	8	83233702	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TAAGCATCCAGAGCTCTACATTCTC -3'
(R):5'- AAGGACTTTGGCTGCGCTTC -3'

Sequencing Primer
(F):5'- GAGCTCTACATTCTCAGGAGC -3'
(R):5'- TGCCGCACTGCTCTCAG -3'

Posted On

2019-10-24