Mutagenetix > Incidental Mutation

Incidental Mutation 'R1971:Tbc1d9'

220883

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9

Ensembl Gene

ENSMUSG00000031709

Gene Name

TBC1 domain family, member 9

Synonyms

C76116, 4933431N12Rik

MMRRC Submission

039984-MU

Accession Numbers

Essential gene?

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

Stock #

R1971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83891981-83999563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83976139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 566 (R566H)

Ref Sequence

ENSEMBL: ENSMUSP00000091093 (fasta)

Gene Model

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

AlphaFold

Q3UYK3

Predicted Effect

unknown
Transcript: ENSMUST00000034145
AA Change: R333H

SMART Domains

Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: R333H

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: R566H

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

SMART Domains

Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: R566H

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

Meta Mutation Damage Score

0.8669

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (115/116)

Allele List at MGI

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

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,566 (GRCm39)	I242N	probably benign	Het
2510009E07Rik	G	T	16: 21,472,048 (GRCm39)	Y217*	probably null	Het
4931429L15Rik	C	T	9: 46,220,086 (GRCm39)	V149M	probably benign	Het
Abcg8	G	T	17: 85,002,587 (GRCm39)		probably benign	Het
Acox1	A	G	11: 116,089,087 (GRCm39)	F77S	probably benign	Het
Adgrb3	G	T	1: 25,586,525 (GRCm39)	H389Q	probably benign	Het
Ak7	A	G	12: 105,692,504 (GRCm39)	N186S	probably damaging	Het
Apobr	A	G	7: 126,185,397 (GRCm39)	T303A	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bcl9l	T	C	9: 44,419,996 (GRCm39)		probably null	Het
Bco2	T	C	9: 50,457,284 (GRCm39)	D86G	probably damaging	Het
Bmpr1b	T	A	3: 141,563,333 (GRCm39)	I204F	probably damaging	Het
Bpifb5	C	A	2: 154,072,264 (GRCm39)	Q324K	probably benign	Het
Cacna2d2	G	A	9: 107,389,205 (GRCm39)	V223I	probably damaging	Het
Capn3	A	G	2: 120,311,228 (GRCm39)	D105G	possibly damaging	Het
Ccdc40	G	T	11: 119,153,901 (GRCm39)		probably null	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Ckap2l	A	G	2: 129,127,342 (GRCm39)	S279P	possibly damaging	Het
Cldn12	C	A	5: 5,558,137 (GRCm39)	A97S	probably benign	Het
Clec2l	T	G	6: 38,640,309 (GRCm39)	S47A	probably benign	Het
Csnk1d	C	A	11: 120,863,274 (GRCm39)	R222M	possibly damaging	Het
Ctnna1	T	A	18: 35,287,580 (GRCm39)	D96E	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Drd2	T	C	9: 49,318,359 (GRCm39)	F434L	probably damaging	Het
En1	A	G	1: 120,534,742 (GRCm39)	T344A	unknown	Het
Eri3	A	G	4: 117,421,964 (GRCm39)	T81A	probably benign	Het
Fam20a	T	C	11: 109,576,237 (GRCm39)	Y174C	probably damaging	Het
Fam234a	G	C	17: 26,435,629 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,631,294 (GRCm39)	I217N	probably damaging	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fcgbpl1	C	A	7: 27,830,937 (GRCm39)	A50E	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gm136	T	G	4: 34,755,986 (GRCm39)	D9A	probably benign	Het
Gstt2	G	T	10: 75,668,499 (GRCm39)	T116N	probably benign	Het
Hs3st6	A	G	17: 24,972,267 (GRCm39)	T70A	probably benign	Het
Hspa14	A	G	2: 3,490,804 (GRCm39)	V461A	possibly damaging	Het
Itih5	A	T	2: 10,243,379 (GRCm39)	D372V	probably damaging	Het
Kcna2	A	T	3: 107,012,140 (GRCm39)	R240S	probably damaging	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lap3	T	C	5: 45,663,508 (GRCm39)		probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lpin1	A	T	12: 16,630,724 (GRCm39)	L58H	probably damaging	Het
Map4k5	G	T	12: 69,873,102 (GRCm39)	P468Q	possibly damaging	Het
Med31	G	A	11: 72,106,244 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,315,688 (GRCm39)		probably null	Het
Mrc1	G	A	2: 14,249,103 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,359,784 (GRCm39)	I16T	probably damaging	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Mst1r	A	T	9: 107,790,411 (GRCm39)	I675F	probably benign	Het
Myb	A	C	10: 21,016,555 (GRCm39)	S652A	probably benign	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Myl6b	A	G	10: 128,330,512 (GRCm39)	V181A	probably damaging	Het
Myt1l	A	T	12: 29,877,091 (GRCm39)	K247N	unknown	Het
Nanos2	G	T	7: 18,721,629 (GRCm39)	V34L	probably benign	Het
Nav1	T	C	1: 135,460,091 (GRCm39)	T411A	probably benign	Het
Nedd9	T	A	13: 41,492,424 (GRCm39)	I23F	probably damaging	Het
Nes	G	A	3: 87,885,634 (GRCm39)	V1254I	possibly damaging	Het
Nol6	A	G	4: 41,119,542 (GRCm39)	F588S	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Olr1	T	C	6: 129,470,498 (GRCm39)	E223G	probably benign	Het
Or1e30	T	A	11: 73,678,616 (GRCm39)	M284K	probably damaging	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or4c118	A	T	2: 88,975,078 (GRCm39)	C96*	probably null	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or51l4	C	T	7: 103,404,527 (GRCm39)	W88*	probably null	Het
Pate6	T	A	9: 35,700,309 (GRCm39)	H92L	probably benign	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pik3cg	A	T	12: 32,242,152 (GRCm39)	V986D	probably damaging	Het
Pitpnm1	T	A	19: 4,162,450 (GRCm39)	D1093E	probably damaging	Het
Ppp1r12b	T	C	1: 134,793,651 (GRCm39)	D571G	probably benign	Het
Rfx1	A	G	8: 84,822,126 (GRCm39)	E875G	probably damaging	Het
Rnf145	T	A	11: 44,439,642 (GRCm39)	I146N	probably damaging	Het
Rttn	G	A	18: 89,108,557 (GRCm39)	R1587H	probably benign	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Sdhb	A	G	4: 140,700,260 (GRCm39)	D120G	possibly damaging	Het
Serpine3	A	G	14: 62,902,533 (GRCm39)	N48S	probably damaging	Het
Sgms1	T	A	19: 32,137,357 (GRCm39)	I70L	probably benign	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Smtnl2	C	T	11: 72,302,183 (GRCm39)	A93T	probably benign	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,752,866 (GRCm39)		probably null	Het
Tbc1d10b	A	T	7: 126,807,036 (GRCm39)	V167E	probably benign	Het
Tenm3	A	G	8: 48,689,348 (GRCm39)	Y2080H	probably damaging	Het
Tex14	A	G	11: 87,402,431 (GRCm39)	N506S	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tjp1	G	T	7: 64,973,826 (GRCm39)	T476K	probably damaging	Het
Tlr11	A	T	14: 50,598,691 (GRCm39)	T226S	probably benign	Het
Tmem131	G	A	1: 36,843,680 (GRCm39)	Q1394*	probably null	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Tmem219	T	C	7: 126,496,422 (GRCm39)	S13G	probably benign	Het
Trp53bp1	T	C	2: 121,035,517 (GRCm39)	Y47C	probably damaging	Het
Ttn	T	A	2: 76,731,922 (GRCm39)		probably benign	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Usp37	A	T	1: 74,479,127 (GRCm39)	Y948*	probably null	Het
Vav1	A	T	17: 57,634,697 (GRCm39)	Y805F	probably damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r2	T	A	3: 64,034,121 (GRCm39)	Y467F	probably damaging	Het
Vps35l	A	C	7: 118,374,557 (GRCm39)	R352S	probably damaging	Het
Vps54	C	A	11: 21,242,051 (GRCm39)	L389I	probably damaging	Het
Vwa8	G	T	14: 79,162,694 (GRCm39)		probably benign	Het
Wdr19	G	T	5: 65,398,503 (GRCm39)		probably benign	Het
Wnt2b	A	T	3: 104,861,933 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,342,039 (GRCm39)	R1427G	possibly damaging	Het
Ylpm1	T	C	12: 85,087,560 (GRCm39)	S1115P	probably damaging	Het
Zfp946	T	A	17: 22,674,406 (GRCm39)	C387S	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
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

Predicted Primers

PCR Primer
(F):5'- CATTGCTGTCTATAGCTGGATCAG -3'
(R):5'- GGTCTGATGCTGAATCTCGTC -3'

Sequencing Primer
(F):5'- CTGGATCAGCAGGATTTTAGCTTTC -3'
(R):5'- GATGCTGAATCTCGTCTGAATTC -3'

Posted On

2014-08-25