Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Tbc1d9b'

250785

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

MMRRC Submission

040432-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50022223-50063612 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 50052528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093138] [ENSMUST00000101270] [ENSMUST00000101270]

AlphaFold

Q5SVR0

Predicted Effect

probably null
Transcript: ENSMUST00000093138

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
GRAM	142	209	1.21e-26	SMART
GRAM	288	356	3.02e-22	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	422	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
TBC	506	719	1.18e-57	SMART
Blast:TBC	727	810	2e-28	BLAST
low complexity region	1124	1138	N/A	INTRINSIC
low complexity region	1144	1155	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101270

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
GRAM	142	209	1.21e-26	SMART
GRAM	288	356	3.02e-22	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	422	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
TBC	506	719	1.18e-57	SMART
Blast:TBC	727	810	3e-28	BLAST
low complexity region	970	980	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
low complexity region	1161	1172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101270

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
GRAM	142	209	1.21e-26	SMART
GRAM	288	356	3.02e-22	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	422	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
TBC	506	719	1.18e-57	SMART
Blast:TBC	727	810	3e-28	BLAST
low complexity region	970	980	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
low complexity region	1161	1172	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141520

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,485,894 (GRCm39)	I348V	probably benign	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or4b1d	A	T	2: 89,968,889 (GRCm39)	V198D	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Prkce	A	G	17: 86,483,654 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,494,615 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Slc44a4	T	C	17: 35,142,399 (GRCm39)		probably benign	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	probably benign	Het

Other mutations in Tbc1d9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Tbc1d9b	APN	11	50,052,460 (GRCm39)	missense	probably damaging	1.00
IGL01870:Tbc1d9b	APN	11	50,052,915 (GRCm39)	missense	probably damaging	1.00
IGL02082:Tbc1d9b	APN	11	50,054,709 (GRCm39)	missense	probably benign	0.00
IGL02105:Tbc1d9b	APN	11	50,040,653 (GRCm39)	missense	probably damaging	0.96
IGL02264:Tbc1d9b	APN	11	50,040,584 (GRCm39)	missense	probably damaging	0.98
IGL02801:Tbc1d9b	APN	11	50,043,657 (GRCm39)	missense	probably damaging	1.00
IGL03111:Tbc1d9b	APN	11	50,049,369 (GRCm39)	missense	probably damaging	1.00
IGL02988:Tbc1d9b	UTSW	11	50,042,773 (GRCm39)	missense	possibly damaging	0.80
R0102:Tbc1d9b	UTSW	11	50,026,676 (GRCm39)	missense	probably damaging	1.00
R0109:Tbc1d9b	UTSW	11	50,049,261 (GRCm39)	missense	probably benign	0.02
R0131:Tbc1d9b	UTSW	11	50,026,751 (GRCm39)	missense	probably benign
R0463:Tbc1d9b	UTSW	11	50,035,894 (GRCm39)	missense	probably benign	0.00
R0472:Tbc1d9b	UTSW	11	50,059,055 (GRCm39)	splice site	probably null
R0846:Tbc1d9b	UTSW	11	50,062,148 (GRCm39)	missense	probably benign	0.01
R1099:Tbc1d9b	UTSW	11	50,037,135 (GRCm39)	missense	probably benign	0.04
R1276:Tbc1d9b	UTSW	11	50,043,476 (GRCm39)	missense	possibly damaging	0.87
R1642:Tbc1d9b	UTSW	11	50,040,659 (GRCm39)	missense	probably damaging	0.98
R2915:Tbc1d9b	UTSW	11	50,040,563 (GRCm39)	missense	possibly damaging	0.95
R3825:Tbc1d9b	UTSW	11	50,061,954 (GRCm39)	missense	possibly damaging	0.85
R3964:Tbc1d9b	UTSW	11	50,059,523 (GRCm39)	missense	possibly damaging	0.50
R4051:Tbc1d9b	UTSW	11	50,062,070 (GRCm39)	missense	probably benign	0.09
R4705:Tbc1d9b	UTSW	11	50,031,289 (GRCm39)	missense	probably benign	0.33
R4783:Tbc1d9b	UTSW	11	50,062,125 (GRCm39)	missense	probably benign	0.00
R5330:Tbc1d9b	UTSW	11	50,037,140 (GRCm39)	missense	probably benign
R5331:Tbc1d9b	UTSW	11	50,037,140 (GRCm39)	missense	probably benign
R5888:Tbc1d9b	UTSW	11	50,031,311 (GRCm39)	missense	probably benign	0.15
R5949:Tbc1d9b	UTSW	11	50,038,876 (GRCm39)	missense	probably benign
R6144:Tbc1d9b	UTSW	11	50,037,155 (GRCm39)	missense	probably benign
R6166:Tbc1d9b	UTSW	11	50,026,673 (GRCm39)	missense	probably damaging	1.00
R6331:Tbc1d9b	UTSW	11	50,022,324 (GRCm39)	missense	possibly damaging	0.95
R6432:Tbc1d9b	UTSW	11	50,037,155 (GRCm39)	missense	probably benign
R6856:Tbc1d9b	UTSW	11	50,059,573 (GRCm39)	missense	probably benign	0.11
R7110:Tbc1d9b	UTSW	11	50,054,657 (GRCm39)	missense	probably benign	0.09
R7134:Tbc1d9b	UTSW	11	50,043,519 (GRCm39)	missense	possibly damaging	0.55
R7372:Tbc1d9b	UTSW	11	50,059,515 (GRCm39)	splice site	probably null
R7464:Tbc1d9b	UTSW	11	50,022,312 (GRCm39)	missense	probably damaging	1.00
R7508:Tbc1d9b	UTSW	11	50,035,947 (GRCm39)	missense	probably damaging	0.97
R7584:Tbc1d9b	UTSW	11	50,061,543 (GRCm39)	missense	probably damaging	1.00
R7730:Tbc1d9b	UTSW	11	50,026,742 (GRCm39)	missense	possibly damaging	0.89
R7747:Tbc1d9b	UTSW	11	50,052,447 (GRCm39)	missense	probably benign	0.39
R8260:Tbc1d9b	UTSW	11	50,055,013 (GRCm39)	missense	probably benign	0.26
R8345:Tbc1d9b	UTSW	11	50,040,659 (GRCm39)	missense	probably damaging	0.98
R8711:Tbc1d9b	UTSW	11	50,047,578 (GRCm39)	missense	probably damaging	1.00
R8979:Tbc1d9b	UTSW	11	50,061,809 (GRCm39)	missense	probably benign	0.00
R9012:Tbc1d9b	UTSW	11	50,040,688 (GRCm39)	missense	probably benign	0.00
R9300:Tbc1d9b	UTSW	11	50,054,714 (GRCm39)	missense	probably benign	0.00
R9655:Tbc1d9b	UTSW	11	50,059,610 (GRCm39)	missense	possibly damaging	0.93
R9794:Tbc1d9b	UTSW	11	50,062,005 (GRCm39)	missense	probably benign	0.28
X0065:Tbc1d9b	UTSW	11	50,059,010 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGGTAATCCTGAGAGTCAG -3'
(R):5'- CTGCTTCCCTAAGACCCTATGG -3'

Sequencing Primer
(F):5'- TGCAGGCCAAGCATCTG -3'
(R):5'- GAAAAGCTTAACCTTCTTTGGGGCC -3'

Posted On

2014-12-04