Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02068:Tbc1d9'

185724

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 #

IGL02068

Quality Score

Status

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83966497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 366 (L366P)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: L133P

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: L133P

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: L366P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: L366P

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,814,558 (GRCm39)	I140F	probably benign	Het
Cfap58	T	C	19: 47,974,951 (GRCm39)	L704P	probably damaging	Het
Cnnm2	T	C	19: 46,865,827 (GRCm39)	V805A	possibly damaging	Het
Dnah9	T	C	11: 65,951,871 (GRCm39)	E1876G	probably damaging	Het
Dock1	A	T	7: 134,373,277 (GRCm39)	E548V	probably benign	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Esm1	T	G	13: 113,346,630 (GRCm39)	F85C	probably damaging	Het
Fcer1a	C	T	1: 173,053,071 (GRCm39)	G42R	probably damaging	Het
Fcer1g	A	T	1: 171,058,760 (GRCm39)	Y43N	probably damaging	Het
Grik1	G	T	16: 87,737,539 (GRCm39)	T585K	possibly damaging	Het
Hnf4g	T	C	3: 3,709,636 (GRCm39)	I184T	probably benign	Het
Hsd11b1	G	A	1: 192,904,354 (GRCm39)	R282*	probably null	Het
Lig1	T	A	7: 13,026,377 (GRCm39)		probably benign	Het
Or13l2	T	C	3: 97,318,222 (GRCm39)	K92E	possibly damaging	Het
Phip	A	G	9: 82,827,861 (GRCm39)	S184P	probably damaging	Het
Pkhd1	C	T	1: 20,592,971 (GRCm39)	G1714D	probably damaging	Het
Plppr4	A	G	3: 117,125,433 (GRCm39)		probably benign	Het
Prdm10	G	A	9: 31,248,646 (GRCm39)	R356Q	probably damaging	Het
Rasgrp1	C	T	2: 117,131,059 (GRCm39)		probably benign	Het
Rpap1	C	T	2: 119,613,135 (GRCm39)	E138K	probably benign	Het
Sidt2	A	C	9: 45,856,962 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,706,411 (GRCm39)	L610P	probably damaging	Het
Slc39a10	T	C	1: 46,858,599 (GRCm39)		probably benign	Het
Snx18	G	A	13: 113,753,601 (GRCm39)	A444V	probably damaging	Het
Svil	A	G	18: 5,092,899 (GRCm39)	E1459G	probably damaging	Het
Tbk1	A	T	10: 121,406,694 (GRCm39)	H181Q	probably damaging	Het
Wrn	C	A	8: 33,800,777 (GRCm39)	G612V	probably benign	Het
Xdh	A	G	17: 74,220,945 (GRCm39)	Y595H	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
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

2014-05-07