Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Tbc1d9b'

254856

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50131396-50172785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50149736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 360 (V360D)

Ref Sequence

ENSEMBL: ENSMUSP00000098828 (fasta)

Gene Model

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

AlphaFold

Q5SVR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093138
AA Change: V360D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: V360D

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

possibly damaging
Transcript: ENSMUST00000101270
AA Change: V360D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: V360D

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: ENSMUST00000124605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148887

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	Het

Other mutations in Tbc1d9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Tbc1d9b	APN	11	50161633	missense	probably damaging	1.00
IGL01870:Tbc1d9b	APN	11	50162088	missense	probably damaging	1.00
IGL02082:Tbc1d9b	APN	11	50163882	missense	probably benign	0.00
IGL02105:Tbc1d9b	APN	11	50149826	missense	probably damaging	0.96
IGL02264:Tbc1d9b	APN	11	50149757	missense	probably damaging	0.98
IGL02801:Tbc1d9b	APN	11	50152830	missense	probably damaging	1.00
IGL03111:Tbc1d9b	APN	11	50158542	missense	probably damaging	1.00
IGL02988:Tbc1d9b	UTSW	11	50151946	missense	possibly damaging	0.80
R0102:Tbc1d9b	UTSW	11	50135849	missense	probably damaging	1.00
R0109:Tbc1d9b	UTSW	11	50158434	missense	probably benign	0.02
R0131:Tbc1d9b	UTSW	11	50135924	missense	probably benign
R0463:Tbc1d9b	UTSW	11	50145067	missense	probably benign	0.00
R0472:Tbc1d9b	UTSW	11	50168228	splice site	probably null
R0846:Tbc1d9b	UTSW	11	50171321	missense	probably benign	0.01
R1099:Tbc1d9b	UTSW	11	50146308	missense	probably benign	0.04
R1276:Tbc1d9b	UTSW	11	50152649	missense	possibly damaging	0.87
R1642:Tbc1d9b	UTSW	11	50149832	missense	probably damaging	0.98
R2679:Tbc1d9b	UTSW	11	50161701	splice site	probably null
R3825:Tbc1d9b	UTSW	11	50171127	missense	possibly damaging	0.85
R3964:Tbc1d9b	UTSW	11	50168696	missense	possibly damaging	0.50
R4051:Tbc1d9b	UTSW	11	50171243	missense	probably benign	0.09
R4705:Tbc1d9b	UTSW	11	50140462	missense	probably benign	0.33
R4783:Tbc1d9b	UTSW	11	50171298	missense	probably benign	0.00
R5330:Tbc1d9b	UTSW	11	50146313	missense	probably benign
R5331:Tbc1d9b	UTSW	11	50146313	missense	probably benign
R5888:Tbc1d9b	UTSW	11	50140484	missense	probably benign	0.15
R5949:Tbc1d9b	UTSW	11	50148049	missense	probably benign
R6144:Tbc1d9b	UTSW	11	50146328	missense	probably benign
R6166:Tbc1d9b	UTSW	11	50135846	missense	probably damaging	1.00
R6331:Tbc1d9b	UTSW	11	50131497	missense	possibly damaging	0.95
R6432:Tbc1d9b	UTSW	11	50146328	missense	probably benign
R6856:Tbc1d9b	UTSW	11	50168746	missense	probably benign	0.11
R7110:Tbc1d9b	UTSW	11	50163830	missense	probably benign	0.09
R7134:Tbc1d9b	UTSW	11	50152692	missense	possibly damaging	0.55
R7372:Tbc1d9b	UTSW	11	50168688	splice site	probably null
R7464:Tbc1d9b	UTSW	11	50131485	missense	probably damaging	1.00
R7508:Tbc1d9b	UTSW	11	50145120	missense	probably damaging	0.97
R7584:Tbc1d9b	UTSW	11	50170716	missense	probably damaging	1.00
R7730:Tbc1d9b	UTSW	11	50135915	missense	possibly damaging	0.89
R7747:Tbc1d9b	UTSW	11	50161620	missense	probably benign	0.39
R8260:Tbc1d9b	UTSW	11	50164186	missense	probably benign	0.26
R8345:Tbc1d9b	UTSW	11	50149832	missense	probably damaging	0.98
R8711:Tbc1d9b	UTSW	11	50156751	missense	probably damaging	1.00
R8979:Tbc1d9b	UTSW	11	50170982	missense	probably benign	0.00
R9012:Tbc1d9b	UTSW	11	50149861	missense	probably benign	0.00
R9300:Tbc1d9b	UTSW	11	50163887	missense	probably benign	0.00
R9655:Tbc1d9b	UTSW	11	50168783	missense	possibly damaging	0.93
R9794:Tbc1d9b	UTSW	11	50171178	missense	probably benign	0.28
X0065:Tbc1d9b	UTSW	11	50168183	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACATCATCTTCCCAGAGCCTG -3'
(R):5'- GTCTGAAACACTGGCCTTTG -3'

Sequencing Primer
(F):5'- GTGCAGCTCACACGCAAG -3'
(R):5'- GAAACACTGGCCTTTGTTCCC -3'

Posted On

2014-12-29