Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02651:Tbc1d21'

302148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d21

Ensembl Gene

ENSMUSG00000036244

Gene Name

TBC1 domain family, member 21

Synonyms

1700095K08Rik, MgcRabGAP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

58266987-58277738 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58270384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 130 (Y130*)

Ref Sequence

ENSEMBL: ENSMUSP00000150275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040217] [ENSMUST00000213847]

AlphaFold

Q9D9D3

Predicted Effect

probably null
Transcript: ENSMUST00000040217
AA Change: Y130*

SMART Domains

Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: Y130*

Domain	Start	End	E-Value	Type
TBC	54	291	1.76e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000213847
AA Change: Y130*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,909,906 (GRCm39)	G233S	probably benign	Het
Abcc1	T	A	16: 14,283,990 (GRCm39)	C1202S	probably benign	Het
Acaca	C	T	11: 84,136,030 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,613,529 (GRCm39)	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,606,171 (GRCm39)	Q309K	probably damaging	Het
Asgr1	T	C	11: 69,947,956 (GRCm39)	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,152,909 (GRCm39)		probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atp8b2	A	C	3: 89,861,896 (GRCm39)		probably null	Het
Btnl2	A	G	17: 34,575,196 (GRCm39)	M1V	probably null	Het
Cpsf3	T	A	12: 21,343,298 (GRCm39)	M121K	probably damaging	Het
Creb3l3	A	G	10: 80,920,668 (GRCm39)	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,440,941 (GRCm39)	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,768 (GRCm39)	I2597V	probably benign	Het
Ercc5	C	A	1: 44,196,104 (GRCm39)	S32R	probably damaging	Het
Fchsd2	T	A	7: 100,926,807 (GRCm39)	N656K	possibly damaging	Het
Fga	G	A	3: 82,935,841 (GRCm39)	E23K	probably benign	Het
Fn1	T	C	1: 71,636,835 (GRCm39)	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,500,841 (GRCm39)	E423D	probably damaging	Het
Glg1	C	T	8: 111,887,359 (GRCm39)	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,771,548 (GRCm39)	R210L	probably benign	Het
Hbb-y	T	G	7: 103,501,957 (GRCm39)	K105Q	probably benign	Het
Hspg2	A	T	4: 137,284,756 (GRCm39)		probably benign	Het
Ipo11	T	C	13: 107,012,114 (GRCm39)	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,325,372 (GRCm39)	M1322V	probably damaging	Het
Jhy	A	G	9: 40,828,631 (GRCm39)	L425P	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,455,669 (GRCm39)	E159D	possibly damaging	Het
Msh6	A	T	17: 88,296,943 (GRCm39)	L1213F	probably damaging	Het
Npy1r	A	C	8: 67,157,675 (GRCm39)	R328S	possibly damaging	Het
Or4a74	A	T	2: 89,439,842 (GRCm39)	N201K	possibly damaging	Het
Or5ak20	A	C	2: 85,183,394 (GRCm39)	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,624,234 (GRCm39)	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,347,210 (GRCm39)	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,268,826 (GRCm39)	I301N	probably damaging	Het
Rptor	T	C	11: 119,783,438 (GRCm39)	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,640,632 (GRCm39)	F171L	possibly damaging	Het
Senp5	A	G	16: 31,808,897 (GRCm39)	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,537,494 (GRCm39)	S736P	probably damaging	Het
Tacr1	T	C	6: 82,469,622 (GRCm39)	S169P	probably damaging	Het
Tle2	G	A	10: 81,422,723 (GRCm39)	G428D	probably damaging	Het
Tmem117	T	A	15: 94,992,442 (GRCm39)	N367K	probably damaging	Het
Tmem210	A	G	2: 25,179,101 (GRCm39)	T130A	possibly damaging	Het
Ttn	T	G	2: 76,680,368 (GRCm39)		probably benign	Het
Ttyh1	T	C	7: 4,127,678 (GRCm39)	L122P	probably damaging	Het
Vmn2r60	T	C	7: 41,845,010 (GRCm39)	F791S	probably damaging	Het
Vps13d	A	T	4: 144,891,129 (GRCm39)	N575K	probably benign	Het
Vps8	T	C	16: 21,336,086 (GRCm39)	V746A	probably damaging	Het
Wdfy3	A	T	5: 102,044,341 (GRCm39)	M1888K	probably benign	Het
Zfp595	T	C	13: 67,469,017 (GRCm39)	D3G	probably benign	Het

Other mutations in Tbc1d21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Tbc1d21	APN	9	58,269,745 (GRCm39)	missense	possibly damaging	0.78
IGL02118:Tbc1d21	APN	9	58,267,746 (GRCm39)	missense	probably benign	0.00
R0693:Tbc1d21	UTSW	9	58,268,570 (GRCm39)	missense	probably damaging	1.00
R0730:Tbc1d21	UTSW	9	58,267,160 (GRCm39)	missense	probably benign	0.00
R1454:Tbc1d21	UTSW	9	58,270,096 (GRCm39)	critical splice donor site	probably null
R1776:Tbc1d21	UTSW	9	58,274,011 (GRCm39)	splice site	probably benign
R2230:Tbc1d21	UTSW	9	58,270,363 (GRCm39)	missense	probably damaging	1.00
R2512:Tbc1d21	UTSW	9	58,270,195 (GRCm39)	missense	probably damaging	1.00
R3052:Tbc1d21	UTSW	9	58,270,352 (GRCm39)	missense	probably damaging	1.00
R3053:Tbc1d21	UTSW	9	58,270,352 (GRCm39)	missense	probably damaging	1.00
R6348:Tbc1d21	UTSW	9	58,268,501 (GRCm39)	missense	probably benign
R6805:Tbc1d21	UTSW	9	58,268,571 (GRCm39)	missense	possibly damaging	0.91
R7032:Tbc1d21	UTSW	9	58,274,134 (GRCm39)	critical splice donor site	probably null
R7153:Tbc1d21	UTSW	9	58,270,376 (GRCm39)	missense	probably damaging	1.00
R7640:Tbc1d21	UTSW	9	58,268,544 (GRCm39)	missense	probably damaging	1.00
R7753:Tbc1d21	UTSW	9	58,269,306 (GRCm39)	critical splice donor site	probably null
R8835:Tbc1d21	UTSW	9	58,273,991 (GRCm39)	missense	probably damaging	1.00
R9316:Tbc1d21	UTSW	9	58,274,215 (GRCm39)	missense	probably benign	0.03
R9498:Tbc1d21	UTSW	9	58,273,924 (GRCm39)	missense	probably damaging	1.00
R9606:Tbc1d21	UTSW	9	58,268,487 (GRCm39)	missense	possibly damaging	0.64

Posted On

2015-04-16