Mutagenetix > Incidental Mutations

Incidental Mutation 'R2920:Tbc1d9'

255476

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

4933431N12Rik, C76116

MMRRC Submission

040505-MU

Accession Numbers

Genbank: NM_001111304.1, NM_027758.4

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83165352-83272934 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83210469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 60 (V60A)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

probably benign
Transcript: ENSMUST00000034145
AA Change: V60A

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

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: V60A

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 benign
Transcript: ENSMUST00000093393
AA Change: V60A

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

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: V60A

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

0.1349

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

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
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	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
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
R7645:Tbc1d9	UTSW	8	83242553	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'- AATGTAGAGCCCGAGTCCTG -3'
(R):5'- CGTAACCTGACAAAAGACTGAG -3'

Sequencing Primer
(F):5'- AGCCCGAGTCCTGTAAGATG -3'
(R):5'- GACTTACCACAGGCAATG -3'

Posted On

2014-12-29