Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02082:Tbc1d9b'

283402

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

IGL02082

Quality Score

Status

Chromosome

Chromosomal Location

50022223-50063612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50054709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 951 (D951G)

Ref Sequence

ENSEMBL: ENSMUSP00000098828 (fasta)

Gene Model

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

AlphaFold

Q5SVR0

Predicted Effect

probably benign
Transcript: ENSMUST00000093138
AA Change: D951G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: D951G

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: D951G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: D951G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9b	A	C	18: 80,935,145 (GRCm39)		probably benign	Het
Brinp3	T	C	1: 146,627,600 (GRCm39)	C278R	probably damaging	Het
Cfap54	T	C	10: 92,917,320 (GRCm39)	S47G	unknown	Het
Clec16a	T	C	16: 10,432,432 (GRCm39)	L484P	probably damaging	Het
Cnksr1	C	A	4: 133,963,363 (GRCm39)	G71C	probably damaging	Het
Dnah12	A	T	14: 26,428,317 (GRCm39)	N246I	possibly damaging	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Focad	C	T	4: 88,148,815 (GRCm39)	Q511*	probably null	Het
Gpr63	A	G	4: 25,008,564 (GRCm39)		probably benign	Het
Iah1	C	A	12: 21,367,405 (GRCm39)	S37*	probably null	Het
Inpp4a	T	A	1: 37,405,708 (GRCm39)		probably benign	Het
Mcm2	A	T	6: 88,865,218 (GRCm39)	Y486*	probably null	Het
Mtmr10	A	G	7: 63,983,238 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,875,588 (GRCm39)	L1694S	possibly damaging	Het
Pafah1b1	A	G	11: 74,590,159 (GRCm39)	S4P	probably benign	Het
Rnase10	A	T	14: 51,246,856 (GRCm39)	E41V	probably damaging	Het
Slc17a6	G	T	7: 51,318,777 (GRCm39)	R473L	probably benign	Het
Spata31g1	A	G	4: 42,970,198 (GRCm39)	T2A	probably benign	Het
Tk1	C	A	11: 117,716,553 (GRCm39)		probably null	Het
Trim46	C	A	3: 89,146,307 (GRCm39)	A395S	probably benign	Het
Vmn1r113	C	T	7: 20,521,672 (GRCm39)	H155Y	probably benign	Het
Vmn1r222	A	G	13: 23,416,499 (GRCm39)	M238T	probably damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	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
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
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

Posted On

2015-04-16