Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02995:Tbc1d9'

407114

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 #

IGL02995

Quality Score

Status

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 83995688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

probably null
Transcript: ENSMUST00000034145

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709

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 null
Transcript: ENSMUST00000093393

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,470,456 (GRCm39)	V175A	probably benign	Het
Adam19	G	A	11: 46,027,176 (GRCm39)	R603Q	probably benign	Het
Adam25	T	C	8: 41,206,760 (GRCm39)	S9P	probably benign	Het
Akr1e1	T	A	13: 4,647,477 (GRCm39)		probably benign	Het
Ano8	C	T	8: 71,935,761 (GRCm39)	V286I	possibly damaging	Het
Baz1a	C	T	12: 54,947,232 (GRCm39)	R1139H	probably damaging	Het
Brca2	T	A	5: 150,452,953 (GRCm39)	L29H	probably damaging	Het
Btaf1	T	C	19: 36,958,535 (GRCm39)		probably benign	Het
C8b	T	A	4: 104,658,525 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,244,608 (GRCm39)	S1283T	probably damaging	Het
Cyp1a2	T	C	9: 57,584,511 (GRCm39)	*514W	probably null	Het
D2hgdh	G	T	1: 93,757,558 (GRCm39)	D158Y	probably damaging	Het
Dennd1b	G	A	1: 139,008,980 (GRCm39)	V228M	probably damaging	Het
Fgd6	T	A	10: 93,881,342 (GRCm39)	L732*	probably null	Het
Gm21969	G	A	4: 139,335,009 (GRCm39)	G348S	probably benign	Het
Gprc6a	C	T	10: 51,502,895 (GRCm39)	V323M	probably damaging	Het
Gzme	T	A	14: 56,356,166 (GRCm39)	M111L	probably damaging	Het
Iars2	G	T	1: 185,035,498 (GRCm39)	Q581K	probably benign	Het
Klra17	A	T	6: 129,845,647 (GRCm39)		probably null	Het
Klra5	A	T	6: 129,883,577 (GRCm39)	D93E	possibly damaging	Het
Lats2	T	C	14: 57,937,805 (GRCm39)	Y228C	probably damaging	Het
Lrrn3	T	C	12: 41,502,216 (GRCm39)	I700M	probably damaging	Het
Ltb	A	T	17: 35,414,348 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,923,279 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,480,198 (GRCm39)	E205V	probably damaging	Het
Or11l3	A	G	11: 58,516,107 (GRCm39)	M255T	possibly damaging	Het
Or12d13	A	T	17: 37,647,600 (GRCm39)	H174Q	probably damaging	Het
Or1e35	G	A	11: 73,798,045 (GRCm39)	T91M	possibly damaging	Het
Or1j17	C	T	2: 36,578,644 (GRCm39)	P210L	possibly damaging	Het
Pgap1	A	C	1: 54,532,509 (GRCm39)	I670S	probably benign	Het
Plxna4	A	T	6: 32,493,530 (GRCm39)	I362N	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prr27	T	C	5: 87,990,675 (GRCm39)	S96P	probably benign	Het
Psip1	T	A	4: 83,381,954 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,544,084 (GRCm39)	H285Q	possibly damaging	Het
Ror1	T	C	4: 100,191,722 (GRCm39)		probably benign	Het
Rps6ka5	C	A	12: 100,540,258 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Snx6	T	C	12: 54,842,295 (GRCm39)		probably benign	Het
Tek	T	C	4: 94,627,877 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,509 (GRCm39)	H241Q	possibly damaging	Het
Wnt5a	A	T	14: 28,244,871 (GRCm39)	I353F	probably benign	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
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

2016-08-02