Mutagenetix > Incidental Mutations

Incidental Mutation 'R5056:Tbc1d9'

390849

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

4933431N12Rik, C76116

MMRRC Submission

042646-MU

Accession Numbers

Genbank: NM_001111304.1, NM_027758.4

Is this an essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R5056 (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 83269206 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1013 (S1013P)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: S780P

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: S780P

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: S1013P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: S1013P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211568

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

Allele List at MGI

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

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 116,971,682	K229*	probably null	Het
9930021J03Rik	A	T	19: 29,717,359	I1578K	probably benign	Het
Adora2a	T	A	10: 75,326,158	S44T	probably damaging	Het
Agap3	T	C	5: 24,477,862	V459A	probably damaging	Het
Apc2	T	C	10: 80,301,314	V31A	probably benign	Het
Asic2	T	A	11: 80,971,603	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,300,540	P505S	probably benign	Het
C87414	T	C	5: 93,638,925		probably benign	Het
Cdh20	G	T	1: 104,953,997	V396L	probably benign	Het
Cenpb	C	T	2: 131,178,171		probably benign	Het
Chil6	T	A	3: 106,394,343	Y147F	probably damaging	Het
Cluh	C	T	11: 74,661,946	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,690,328	T404A	possibly damaging	Het
Cnot1	T	C	8: 95,741,008	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,764,104	S61P	probably damaging	Het
Dmxl1	T	C	18: 49,870,923	C872R	probably benign	Het
Dnah3	A	G	7: 120,020,946	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,050,142	V73D	probably damaging	Het
F5	A	T	1: 164,192,032	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,674,574	L80I	probably damaging	Het
Fam46b	C	T	4: 133,480,438	R47W	possibly damaging	Het
Foxj2	A	G	6: 122,833,874	H271R	probably benign	Het
Grm7	A	G	6: 111,080,443	T335A	probably damaging	Het
Hspa9	A	G	18: 34,938,681	L622P	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,666,928		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985		probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,636,851	N237K	probably damaging	Het
Lss	T	G	10: 76,552,926		probably null	Het
Map6	T	C	7: 99,336,652	F588L	probably benign	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Med13	A	T	11: 86,328,565	S352T	probably benign	Het
Mettl16	T	A	11: 74,816,940	V320E	probably benign	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,304,131	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,379,049	S83P	probably damaging	Het
Olfr1025-ps1	T	A	2: 85,918,136	D70E	probably damaging	Het
Olfr1083-ps	T	A	2: 86,607,020	I184F	unknown	Het
Olfr1154	T	C	2: 87,903,571	Y35C	probably damaging	Het
Olfr685	T	A	7: 105,180,572	H262L	probably damaging	Het
Pafah1b3	C	T	7: 25,295,339	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,423,491	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,834,392		probably benign	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Prdm9	T	C	17: 15,562,417	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,245		probably null	Het
Rnf14	C	T	18: 38,308,388	P277L	probably damaging	Het
Robo4	T	C	9: 37,404,806	S258P	probably benign	Het
Sfrp1	T	A	8: 23,417,404	F207I	probably damaging	Het
Sgms1	A	G	19: 32,159,687	S160P	probably damaging	Het
Sil1	T	C	18: 35,269,702	K263R	probably benign	Het
St14	A	G	9: 31,097,551		probably null	Het
Syne2	A	G	12: 75,909,131		probably benign	Het
Tmem67	T	C	4: 12,070,471	S352G	probably benign	Het
Trib2	C	A	12: 15,793,794	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,327,171		probably benign	Het
Trpm4	T	C	7: 45,308,630	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,942,762	N305D	possibly damaging	Het
Usp32	A	G	11: 85,026,795	V802A	probably benign	Het
Vmn2r48	T	A	7: 9,942,324	H410L	probably damaging	Het
Wfs1	T	C	5: 36,975,587	N116S	probably benign	Het
Wif1	A	T	10: 121,099,779	H333L	probably benign	Het
Zfp109	T	C	7: 24,228,737	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,172,630	C558S	probably damaging	Het
Zpbp	T	C	11: 11,459,734	D116G	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
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
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
X0062:Tbc1d9	UTSW	8	83233702	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTCGTCACAGTGAGCCTGAAG -3'
(R):5'- AGTCTCAGATCCGAGTACTTTG -3'

Sequencing Primer
(F):5'- GCAGGACAGAGGTACAGATGTC -3'
(R):5'- TGAAGTCCAGGGTTCAACTC -3'

Posted On

2016-06-06