Mutagenetix > Incidental Mutation

Incidental Mutation 'R4117:Tbc1d9'

315135

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

C76116, 4933431N12Rik

MMRRC Submission

040991-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83992776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 960 (I960S)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: I727S

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: I727S

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

possibly damaging
Transcript: ENSMUST00000093393
AA Change: I960S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: I960S

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

0.0672

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (31/32)

Allele List at MGI

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

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,398,313 (GRCm39)	F358L	probably damaging	Het
Adamts16	A	G	13: 70,916,111 (GRCm39)	Y775H	probably benign	Het
Bard1	A	T	1: 71,085,922 (GRCm39)	H594Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cenpt	G	A	8: 106,576,332 (GRCm39)	S73L	probably benign	Het
Ctdnep1	C	A	11: 69,879,497 (GRCm39)	A7D	probably damaging	Het
Fam210b	T	C	2: 172,193,486 (GRCm39)	S100P	probably benign	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
H2-T15	T	C	17: 36,368,496 (GRCm39)	D144G	probably damaging	Het
Heph	T	C	X: 95,544,221 (GRCm39)	V615A	probably benign	Het
Icam5	T	A	9: 20,948,886 (GRCm39)	V746E	probably damaging	Het
Maml2	A	G	9: 13,617,230 (GRCm39)	Q192R	probably damaging	Het
Npas4	T	C	19: 5,037,391 (GRCm39)	Y301C	probably damaging	Het
Nup205	C	T	6: 35,217,947 (GRCm39)	Q1767*	probably null	Het
Or51f5	T	A	7: 102,423,684 (GRCm39)		probably null	Het
Pigg	A	G	5: 108,495,908 (GRCm39)	R982G	probably benign	Het
Plekhg2	A	T	7: 28,060,313 (GRCm39)	H1005Q	probably benign	Het
Rdh12	C	T	12: 79,260,419 (GRCm39)	R172C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Semp2l2b	T	A	10: 21,943,615 (GRCm39)	N122Y	probably benign	Het
Septin4	T	C	11: 87,459,108 (GRCm39)	F494S	probably damaging	Het
Serpinb9	T	A	13: 33,199,579 (GRCm39)	D291E	probably benign	Het
She	A	T	3: 89,759,679 (GRCm39)	Y394F	probably damaging	Het
Sipa1l2	T	C	8: 126,195,249 (GRCm39)	S830G	probably damaging	Het
Stmn4	T	C	14: 66,598,581 (GRCm39)	*217Q	probably null	Het
Stx17	A	G	4: 48,180,689 (GRCm39)	D178G	probably damaging	Het
Ubxn10	G	T	4: 138,448,276 (GRCm39)	D133E	probably benign	Het
Vmn2r42	T	C	7: 8,197,839 (GRCm39)	Y260C	probably damaging	Het
Vmn2r7	A	C	3: 64,623,138 (GRCm39)		probably benign	Het
Zfp143	C	T	7: 109,691,120 (GRCm39)	T557I	probably damaging	Het
Zfp607b	A	G	7: 27,398,107 (GRCm39)	I64V	probably damaging	Het

Other mutations in Tbc1d9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Tbc1d9	APN	8	83,960,791 (GRCm39)	missense	probably damaging	1.00
IGL01443:Tbc1d9	APN	8	83,966,560 (GRCm39)	missense	probably damaging	1.00
IGL01536:Tbc1d9	APN	8	83,987,621 (GRCm39)	missense	probably damaging	1.00
IGL01811:Tbc1d9	APN	8	83,960,307 (GRCm39)	missense	probably damaging	1.00
IGL02068:Tbc1d9	APN	8	83,966,497 (GRCm39)	missense	probably damaging	1.00
IGL02938:Tbc1d9	APN	8	83,995,696 (GRCm39)	splice site	probably benign
IGL02995:Tbc1d9	APN	8	83,995,688 (GRCm39)	critical splice donor site	probably null
IGL03127:Tbc1d9	APN	8	83,976,102 (GRCm39)	missense	probably damaging	1.00
IGL03128:Tbc1d9	APN	8	83,892,714 (GRCm39)	missense	probably benign	0.01
H9600:Tbc1d9	UTSW	8	83,937,090 (GRCm39)	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83,960,872 (GRCm39)	missense	probably damaging	1.00
R0067:Tbc1d9	UTSW	8	83,960,872 (GRCm39)	missense	probably damaging	1.00
R0112:Tbc1d9	UTSW	8	83,991,466 (GRCm39)	splice site	probably benign
R0525:Tbc1d9	UTSW	8	83,995,614 (GRCm39)	missense	probably benign	0.08
R0528:Tbc1d9	UTSW	8	83,937,085 (GRCm39)	missense	probably damaging	1.00
R0737:Tbc1d9	UTSW	8	83,985,942 (GRCm39)	missense	probably damaging	1.00
R1144:Tbc1d9	UTSW	8	83,963,200 (GRCm39)	missense	possibly damaging	0.93
R1354:Tbc1d9	UTSW	8	83,995,610 (GRCm39)	critical splice acceptor site	probably null
R1551:Tbc1d9	UTSW	8	83,992,787 (GRCm39)	missense	probably benign	0.03
R1620:Tbc1d9	UTSW	8	83,976,224 (GRCm39)	missense	probably damaging	1.00
R1971:Tbc1d9	UTSW	8	83,976,139 (GRCm39)	missense	probably damaging	1.00
R1990:Tbc1d9	UTSW	8	83,997,932 (GRCm39)	missense	probably damaging	1.00
R2082:Tbc1d9	UTSW	8	83,997,616 (GRCm39)	missense	probably damaging	1.00
R2149:Tbc1d9	UTSW	8	83,998,078 (GRCm39)	missense	probably damaging	1.00
R2442:Tbc1d9	UTSW	8	83,892,705 (GRCm39)	start codon destroyed	probably null	0.08
R2920:Tbc1d9	UTSW	8	83,937,098 (GRCm39)	missense	probably benign	0.00
R3832:Tbc1d9	UTSW	8	83,960,292 (GRCm39)	missense	probably damaging	1.00
R3953:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3955:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3956:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R3957:Tbc1d9	UTSW	8	83,960,161 (GRCm39)	missense	probably damaging	1.00
R4467:Tbc1d9	UTSW	8	83,937,107 (GRCm39)	missense	probably damaging	1.00
R4533:Tbc1d9	UTSW	8	83,997,547 (GRCm39)	missense	probably damaging	1.00
R4568:Tbc1d9	UTSW	8	83,997,806 (GRCm39)	missense	probably benign	0.00
R4694:Tbc1d9	UTSW	8	83,960,875 (GRCm39)	missense	probably damaging	1.00
R4804:Tbc1d9	UTSW	8	83,982,554 (GRCm39)	critical splice donor site	probably null
R5056:Tbc1d9	UTSW	8	83,995,835 (GRCm39)	missense	probably benign
R5073:Tbc1d9	UTSW	8	83,960,176 (GRCm39)	missense	probably damaging	1.00
R5122:Tbc1d9	UTSW	8	83,963,172 (GRCm39)	missense	probably damaging	0.98
R5270:Tbc1d9	UTSW	8	83,960,283 (GRCm39)	missense	probably benign
R5618:Tbc1d9	UTSW	8	83,969,221 (GRCm39)	missense	probably damaging	1.00
R5738:Tbc1d9	UTSW	8	83,997,655 (GRCm39)	missense	probably benign
R5793:Tbc1d9	UTSW	8	83,998,069 (GRCm39)	missense	probably damaging	0.96
R5908:Tbc1d9	UTSW	8	83,976,174 (GRCm39)	missense	probably benign	0.05
R6258:Tbc1d9	UTSW	8	83,937,145 (GRCm39)	missense	probably damaging	1.00
R6584:Tbc1d9	UTSW	8	83,987,629 (GRCm39)	missense	probably damaging	0.98
R6888:Tbc1d9	UTSW	8	83,998,217 (GRCm39)	missense	possibly damaging	0.92
R6897:Tbc1d9	UTSW	8	83,892,809 (GRCm39)	missense	probably damaging	1.00
R6969:Tbc1d9	UTSW	8	83,968,171 (GRCm39)	missense	probably damaging	0.99
R7026:Tbc1d9	UTSW	8	83,968,192 (GRCm39)	missense	probably benign	0.06
R7072:Tbc1d9	UTSW	8	83,991,494 (GRCm39)	missense	probably damaging	0.97
R7099:Tbc1d9	UTSW	8	83,981,520 (GRCm39)	missense	probably damaging	1.00
R7138:Tbc1d9	UTSW	8	83,937,113 (GRCm39)	missense	probably damaging	1.00
R7172:Tbc1d9	UTSW	8	83,981,390 (GRCm39)	missense	probably damaging	0.96
R7267:Tbc1d9	UTSW	8	83,997,957 (GRCm39)	missense	probably damaging	1.00
R7371:Tbc1d9	UTSW	8	83,997,890 (GRCm39)	missense	probably damaging	0.96
R7457:Tbc1d9	UTSW	8	83,963,309 (GRCm39)	missense	probably damaging	0.99
R7552:Tbc1d9	UTSW	8	83,966,560 (GRCm39)	missense	probably damaging	1.00
R7645:Tbc1d9	UTSW	8	83,969,182 (GRCm39)	missense	probably damaging	1.00
R7728:Tbc1d9	UTSW	8	83,985,979 (GRCm39)	missense	probably damaging	0.99
R7804:Tbc1d9	UTSW	8	83,963,341 (GRCm39)	missense	possibly damaging	0.85
R7978:Tbc1d9	UTSW	8	83,966,583 (GRCm39)	missense	probably damaging	0.98
R8150:Tbc1d9	UTSW	8	83,982,519 (GRCm39)	missense	probably damaging	1.00
R8325:Tbc1d9	UTSW	8	83,966,667 (GRCm39)	critical splice donor site	probably null
R8940:Tbc1d9	UTSW	8	83,981,452 (GRCm39)	missense	probably damaging	1.00
R8995:Tbc1d9	UTSW	8	83,998,180 (GRCm39)	missense	probably benign
R9075:Tbc1d9	UTSW	8	83,982,501 (GRCm39)	missense	probably benign	0.06
R9291:Tbc1d9	UTSW	8	83,987,750 (GRCm39)	missense	probably damaging	1.00
R9335:Tbc1d9	UTSW	8	83,937,160 (GRCm39)	missense	possibly damaging	0.86
R9749:Tbc1d9	UTSW	8	83,968,339 (GRCm39)	critical splice donor site	probably null
X0062:Tbc1d9	UTSW	8	83,960,331 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TAGAACGATGCAGTTACCCAC -3'
(R):5'- CCTCTAAACTGAGAGCCTAAGAAG -3'

Sequencing Primer
(F):5'- TGAGCCCACAGATGCCTC -3'
(R):5'- AGGCAAGGTCGGTGTGC -3'

Posted On

2015-05-14