Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01443:Tbc1d9'

84330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

C76116, 4933431N12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01443

Quality Score

Status

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83966560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 387 (D387G)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: D154G

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: D154G

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: D387G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: D387G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,694,690 (GRCm39)	E1159G	possibly damaging	Het
Adgrl3	A	G	5: 81,613,134 (GRCm39)	Y189C	probably damaging	Het
AW554918	G	A	18: 25,478,012 (GRCm39)	G446R	probably damaging	Het
Baiap3	A	G	17: 25,464,121 (GRCm39)	F884S	possibly damaging	Het
Cd101	T	C	3: 100,910,887 (GRCm39)	T924A	probably benign	Het
Cdk12	T	A	11: 98,136,295 (GRCm39)	V1183E	unknown	Het
Clcc1	T	C	3: 108,578,219 (GRCm39)	M240T	probably benign	Het
Dnmbp	C	A	19: 43,891,309 (GRCm39)	A153S	probably damaging	Het
Dus4l	T	C	12: 31,702,409 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,485,943 (GRCm39)	E430G	probably benign	Het
Erc1	T	C	6: 119,801,432 (GRCm39)	K195R	probably damaging	Het
Evpl	T	C	11: 116,113,280 (GRCm39)	E1470G	probably damaging	Het
Extl3	A	T	14: 65,314,919 (GRCm39)	S88T	probably damaging	Het
Fam135b	A	T	15: 71,335,213 (GRCm39)	H660Q	probably benign	Het
Fat1	G	A	8: 45,493,613 (GRCm39)	G3920S	probably damaging	Het
Fbxo38	A	G	18: 62,666,741 (GRCm39)	V144A	probably damaging	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,358,796 (GRCm39)	T252A	probably damaging	Het
Igkv3-1	A	G	6: 70,681,088 (GRCm39)	S96G	possibly damaging	Het
Igkv4-68	G	T	6: 69,281,921 (GRCm39)	F83L	probably damaging	Het
Klhl31	T	C	9: 77,557,542 (GRCm39)	V86A	possibly damaging	Het
Lypd3	G	A	7: 24,336,063 (GRCm39)	G17R	probably benign	Het
Manba	T	A	3: 135,250,589 (GRCm39)	D405E	probably damaging	Het
Map3k19	A	G	1: 127,766,244 (GRCm39)	S227P	probably benign	Het
Nras	T	A	3: 102,969,751 (GRCm39)	C118S	probably benign	Het
Or52n20	A	G	7: 104,320,278 (GRCm39)	D123G	probably damaging	Het
Pde8a	T	C	7: 80,973,929 (GRCm39)	F629L	probably damaging	Het
Phtf2	A	G	5: 20,987,265 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 116,017,429 (GRCm39)	F109L	probably benign	Het
Plod3	G	A	5: 137,019,075 (GRCm39)	R320H	probably benign	Het
Ppib	T	C	9: 65,972,879 (GRCm39)	F152L	probably damaging	Het
Rbm19	T	C	5: 120,281,503 (GRCm39)		probably benign	Het
Rgs12	T	A	5: 35,132,563 (GRCm39)	S628R	probably benign	Het
Ripk1	A	G	13: 34,199,251 (GRCm39)	D201G	probably damaging	Het
Speer4c2	A	G	5: 15,857,642 (GRCm39)	*212Q	probably null	Het
St14	G	T	9: 31,011,489 (GRCm39)	S434*	probably null	Het
Trio	A	G	15: 27,838,861 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,544,215 (GRCm39)	R32924C	probably damaging	Het
Vmn1r181	T	C	7: 23,684,006 (GRCm39)	V157A	possibly damaging	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	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
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
R4117:Tbc1d9	UTSW	8	83,992,776 (GRCm39)	missense	possibly damaging	0.93
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

Posted On

2013-11-11