Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00818:Tbc1d30'

28289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00818

Quality Score

Status

Chromosome

Chromosomal Location

121099725-121187183 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 121102729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064107]

AlphaFold

Q69ZT9

Predicted Effect

probably benign
Transcript: ENSMUST00000064107

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
TBC	84	318	2.22e-30	SMART
low complexity region	392	403	N/A	INTRINSIC
Pfam:DUF4682	475	613	4.3e-50	PFAM
low complexity region	623	633	N/A	INTRINSIC
low complexity region	649	657	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218111

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,259,475 (GRCm39)	T700A	probably benign	Het
Brinp1	T	A	4: 68,681,084 (GRCm39)	D482V	probably damaging	Het
Cmtr2	A	T	8: 110,949,732 (GRCm39)	T681S	probably benign	Het
Dcc	T	A	18: 72,088,083 (GRCm39)	M52L	probably benign	Het
Echdc1	A	G	10: 29,193,616 (GRCm39)	I38V	probably benign	Het
Gars1	G	T	6: 55,027,338 (GRCm39)	G144V	probably damaging	Het
Gp2	T	C	7: 119,049,350 (GRCm39)	T396A	possibly damaging	Het
Gpatch1	T	C	7: 34,976,238 (GRCm39)		probably null	Het
Mfap4	A	T	11: 61,378,607 (GRCm39)	Q209L	possibly damaging	Het
Pdcd2l	A	T	7: 33,884,158 (GRCm39)	M348K	possibly damaging	Het
Prkdc	A	T	16: 15,577,618 (GRCm39)	T2391S	possibly damaging	Het
Rxrg	C	T	1: 167,454,857 (GRCm39)		probably benign	Het
Serpinb2	A	G	1: 107,452,466 (GRCm39)	D348G	probably benign	Het
Tmtc3	T	A	10: 100,307,342 (GRCm39)	T221S	probably benign	Het
Tro	C	T	X: 149,431,357 (GRCm39)	G1203D	probably damaging	Het
Ttn	T	A	2: 76,552,092 (GRCm39)	T31182S	probably damaging	Het
Zranb3	T	C	1: 127,960,604 (GRCm39)	Y220C	probably damaging	Het

Other mutations in Tbc1d30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Tbc1d30	APN	10	121,132,750 (GRCm39)	missense	probably damaging	1.00
IGL01081:Tbc1d30	APN	10	121,103,319 (GRCm39)	missense	probably damaging	1.00
IGL01813:Tbc1d30	APN	10	121,102,956 (GRCm39)	missense	probably benign
IGL01844:Tbc1d30	APN	10	121,103,084 (GRCm39)	missense	probably benign	0.01
R1782:Tbc1d30	UTSW	10	121,103,525 (GRCm39)	missense	probably damaging	1.00
R1972:Tbc1d30	UTSW	10	121,142,135 (GRCm39)	splice site	probably null
R2025:Tbc1d30	UTSW	10	121,115,051 (GRCm39)	missense	probably benign	0.18
R2197:Tbc1d30	UTSW	10	121,140,312 (GRCm39)	missense	probably damaging	1.00
R3752:Tbc1d30	UTSW	10	121,108,073 (GRCm39)	missense	probably damaging	1.00
R4374:Tbc1d30	UTSW	10	121,130,617 (GRCm39)	missense	probably damaging	1.00
R4540:Tbc1d30	UTSW	10	121,115,063 (GRCm39)	missense	probably damaging	0.99
R4624:Tbc1d30	UTSW	10	121,132,691 (GRCm39)	missense	probably damaging	0.99
R4960:Tbc1d30	UTSW	10	121,103,121 (GRCm39)	missense	probably benign	0.04
R5170:Tbc1d30	UTSW	10	121,142,743 (GRCm39)	missense	possibly damaging	0.49
R5566:Tbc1d30	UTSW	10	121,138,015 (GRCm39)	missense	probably damaging	1.00
R5642:Tbc1d30	UTSW	10	121,132,692 (GRCm39)	missense	probably damaging	1.00
R5726:Tbc1d30	UTSW	10	121,103,479 (GRCm39)	missense	probably damaging	1.00
R6051:Tbc1d30	UTSW	10	121,132,750 (GRCm39)	missense	probably damaging	1.00
R6364:Tbc1d30	UTSW	10	121,130,630 (GRCm39)	missense	possibly damaging	0.95
R7106:Tbc1d30	UTSW	10	121,137,897 (GRCm39)	missense	possibly damaging	0.94
R7233:Tbc1d30	UTSW	10	121,107,962 (GRCm39)	missense	probably benign	0.35
R7256:Tbc1d30	UTSW	10	121,124,870 (GRCm39)	missense	probably damaging	1.00
R7826:Tbc1d30	UTSW	10	121,132,710 (GRCm39)	missense	probably damaging	1.00
R7910:Tbc1d30	UTSW	10	121,183,061 (GRCm39)	nonsense	probably null
R7958:Tbc1d30	UTSW	10	121,107,962 (GRCm39)	missense	probably benign	0.35
R7978:Tbc1d30	UTSW	10	121,142,104 (GRCm39)	missense	probably damaging	1.00
R8021:Tbc1d30	UTSW	10	121,103,448 (GRCm39)	missense	probably benign	0.09
R8394:Tbc1d30	UTSW	10	121,183,013 (GRCm39)	nonsense	probably null
R8472:Tbc1d30	UTSW	10	121,187,009 (GRCm39)	missense	probably benign	0.00
R8532:Tbc1d30	UTSW	10	121,103,335 (GRCm39)	missense	probably damaging	1.00
R8887:Tbc1d30	UTSW	10	121,187,059 (GRCm39)	missense	possibly damaging	0.45
R9124:Tbc1d30	UTSW	10	121,132,716 (GRCm39)	missense	probably damaging	0.99
R9186:Tbc1d30	UTSW	10	121,111,639 (GRCm39)	missense	probably benign
R9282:Tbc1d30	UTSW	10	121,142,128 (GRCm39)	critical splice acceptor site	probably null
R9342:Tbc1d30	UTSW	10	121,103,366 (GRCm39)	nonsense	probably null
R9531:Tbc1d30	UTSW	10	121,183,105 (GRCm39)	missense	probably damaging	1.00
R9665:Tbc1d30	UTSW	10	121,102,886 (GRCm39)	missense	possibly damaging	0.83
R9799:Tbc1d30	UTSW	10	121,142,074 (GRCm39)	missense	possibly damaging	0.55
R9803:Tbc1d30	UTSW	10	121,107,980 (GRCm39)	missense	probably damaging	1.00
Z1176:Tbc1d30	UTSW	10	121,138,018 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d30	UTSW	10	121,186,969 (GRCm39)	missense	probably benign	0.09

Posted On

2013-04-17