Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Tbc1d9b'

535269

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50022223-50063612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50059573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 992 (A992T)

Ref Sequence

ENSEMBL: ENSMUSP00000090825 (fasta)

Gene Model

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

AlphaFold

Q5SVR0

Predicted Effect

probably benign
Transcript: ENSMUST00000093138
AA Change: A992T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: A992T

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 benign
Transcript: ENSMUST00000101270
AA Change: A1009T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: A1009T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnt2	T	C	1: 140,523,742 (GRCm39)	S1057P	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	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
R2679:Tbc1d9b	UTSW	11	50,052,528 (GRCm39)	splice site	probably null
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
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'- ATAGTGCCCAAGTAACCTCAGG -3'
(R):5'- TTCAAGACTGGAGAGGCTCTG -3'

Sequencing Primer
(F):5'- GTAACCTCAGGTCACAGAGCAG -3'
(R):5'- CTCTGGAGAGAGGGAAGAAAACTCC -3'

Posted On

2018-09-12