Mutagenetix > Incidental Mutation

Incidental Mutation 'R2442:Tbc1d9'

249820

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

C76116, 4933431N12Rik

MMRRC Submission

040400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R2442 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 83892705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393] [ENSMUST00000098605]

AlphaFold

Q3UYK3

Predicted Effect

probably null
Transcript: ENSMUST00000034145
AA Change: M1T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: M1T

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

probably null
Transcript: ENSMUST00000098605
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000096205
Gene: ENSMUSG00000074228
AA Change: M1V

Domain	Start	End	E-Value	Type
low complexity region	69	85	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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
Abca17	A	G	17: 24,547,606 (GRCm39)	V256A	probably benign	Het
Acap1	T	C	11: 69,780,317 (GRCm39)	N42S	possibly damaging	Het
Apoo-ps	C	A	13: 107,551,140 (GRCm39)		noncoding transcript	Het
Bri3	C	T	5: 144,181,411 (GRCm39)	T39I	probably benign	Het
Bsn	A	G	9: 107,984,119 (GRCm39)	S3312P	unknown	Het
Camkmt	C	A	17: 85,398,203 (GRCm39)	A17E	possibly damaging	Het
Cc2d2a	G	T	5: 43,828,647 (GRCm39)		probably null	Het
Ccdc122	G	T	14: 77,329,398 (GRCm39)	M150I	possibly damaging	Het
Celf4	A	G	18: 25,886,516 (GRCm39)	F57L	probably damaging	Het
Cep192	T	A	18: 67,957,759 (GRCm39)	F564Y	possibly damaging	Het
Ces1c	T	C	8: 93,849,840 (GRCm39)	D38G	probably damaging	Het
Cts7	C	A	13: 61,503,431 (GRCm39)	G178*	probably null	Het
Dcc	A	T	18: 71,589,954 (GRCm39)	Y681N	probably damaging	Het
Dhx29	A	G	13: 113,083,508 (GRCm39)	E521G	possibly damaging	Het
Dnase2a	T	C	8: 85,635,622 (GRCm39)	V35A	probably damaging	Het
Eif3l	A	G	15: 78,969,807 (GRCm39)	M268V	probably damaging	Het
Foxc1	A	G	13: 31,992,781 (GRCm39)	M531V	unknown	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Ifit1bl1	G	A	19: 34,572,289 (GRCm39)	A56V	probably benign	Het
Iqsec1	T	C	6: 90,666,865 (GRCm39)	E524G	possibly damaging	Het
Kcnt2	A	G	1: 140,304,091 (GRCm39)	I154V	possibly damaging	Het
Kdm1b	T	A	13: 47,216,451 (GRCm39)	Y274N	probably benign	Het
Kntc1	T	A	5: 123,948,922 (GRCm39)	L1889Q	probably damaging	Het
Lama1	A	G	17: 68,075,312 (GRCm39)	T1010A	probably benign	Het
Mmp11	T	C	10: 75,763,079 (GRCm39)	N171S	probably benign	Het
Myom1	A	G	17: 71,417,730 (GRCm39)	E1409G	probably damaging	Het
N4bp1	A	G	8: 87,588,668 (GRCm39)	I90T	probably damaging	Het
Or4c52	T	C	2: 89,845,685 (GRCm39)	V137A	probably benign	Het
Plcb4	T	C	2: 135,792,302 (GRCm39)	S342P	probably damaging	Het
Plg	A	G	17: 12,629,847 (GRCm39)	E627G	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc7a14	A	G	3: 31,284,469 (GRCm39)	I289T	probably damaging	Het
Srpra	G	A	9: 35,123,297 (GRCm39)	G43S	possibly damaging	Het
Tcte2	A	T	17: 13,934,339 (GRCm39)	I90N	possibly damaging	Het
Trim30c	G	A	7: 104,031,481 (GRCm39)	P445S	probably damaging	Het
Trrap	A	G	5: 144,754,776 (GRCm39)	Q1984R	probably damaging	Het
Ubn2	T	C	6: 38,467,940 (GRCm39)	S885P	probably benign	Het
Unc45a	A	G	7: 79,989,417 (GRCm39)	F17S	probably damaging	Het
Uts2b	C	T	16: 27,179,782 (GRCm39)	V75I	probably benign	Het
Vmn2r103	A	G	17: 19,993,793 (GRCm39)	K57E	probably benign	Het
Vmn2r82	A	G	10: 79,221,210 (GRCm39)	S524G	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGAGGATGCTACTTGCTG -3'
(R):5'- AGGCGTTTCTCTCCTAGTCTGG -3'

Sequencing Primer
(F):5'- GATGCTACTTGCTGGGTCCC -3'
(R):5'- CTCCTAGTCTGGGGGAAAATAAAATC -3'

Posted On

2014-11-12