Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Tpgs2'

306095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpgs2

Ensembl Gene

ENSMUSG00000024269

Gene Name

tubulin polyglutamylase complex subunit 2

Synonyms

5730494M16Rik, 5730437P09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

25260280-25301990 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 25272202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115817] [ENSMUST00000148255]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115817

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART
low complexity region	253	264	N/A	INTRINSIC
low complexity region	271	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148255

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,282 (GRCm39)	L3373*	probably null	Het
Ap1s3	T	C	1: 79,601,409 (GRCm39)	Y94C	probably damaging	Het
Dbx2	T	C	15: 95,530,320 (GRCm39)	T216A	probably benign	Het
Dsg4	A	G	18: 20,579,995 (GRCm39)	R67G	probably damaging	Het
Eng	G	A	2: 32,562,970 (GRCm39)		probably null	Het
Gm28042	T	A	2: 119,861,875 (GRCm39)	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,765,720 (GRCm39)	M276I	probably benign	Het
Itih2	A	G	2: 10,102,756 (GRCm39)	S793P	probably benign	Het
Kcnj13	T	C	1: 87,317,087 (GRCm39)	N9D	probably benign	Het
Kics2	A	C	10: 121,581,455 (GRCm39)	Q152P	possibly damaging	Het
Krt78	T	A	15: 101,858,819 (GRCm39)		probably benign	Het
Megf10	A	G	18: 57,423,565 (GRCm39)	K985E	probably benign	Het
Naa25	A	G	5: 121,552,668 (GRCm39)		probably benign	Het
Or8b3b	T	C	9: 38,584,380 (GRCm39)	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,361,583 (GRCm39)	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,312,136 (GRCm39)	K301E	probably benign	Het
Ralgds	T	C	2: 28,438,122 (GRCm39)		probably benign	Het
Rccd1	A	T	7: 79,970,238 (GRCm39)	D126E	probably benign	Het
Reps1	T	C	10: 17,999,348 (GRCm39)	S712P	probably damaging	Het
Rnf103	T	A	6: 71,486,161 (GRCm39)	I264N	probably damaging	Het
Rpap1	A	G	2: 119,604,609 (GRCm39)	I433T	probably damaging	Het
Ryr2	T	G	13: 11,670,563 (GRCm39)	N3478H	probably damaging	Het
Sox30	A	G	11: 45,871,772 (GRCm39)	D209G	probably benign	Het
Sox6	A	G	7: 115,088,981 (GRCm39)	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,944,917 (GRCm39)	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,660,076 (GRCm39)	V398A	probably benign	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Vmn2r120	G	A	17: 57,831,719 (GRCm39)	H357Y	probably benign	Het

Other mutations in Tpgs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Tpgs2	APN	18	25,273,637 (GRCm39)	missense	possibly damaging	0.93
IGL02184:Tpgs2	APN	18	25,273,630 (GRCm39)	missense	probably damaging	1.00
IGL02234:Tpgs2	APN	18	25,282,301 (GRCm39)	critical splice acceptor site	probably null
PIT4466001:Tpgs2	UTSW	18	25,301,652 (GRCm39)	missense	possibly damaging	0.77
PIT4472001:Tpgs2	UTSW	18	25,301,652 (GRCm39)	missense	possibly damaging	0.77
R0004:Tpgs2	UTSW	18	25,291,295 (GRCm39)	splice site	probably benign
R0139:Tpgs2	UTSW	18	25,282,242 (GRCm39)	missense	probably damaging	1.00
R0898:Tpgs2	UTSW	18	25,282,207 (GRCm39)	missense	probably damaging	1.00
R1415:Tpgs2	UTSW	18	25,301,610 (GRCm39)	missense	probably damaging	1.00
R1590:Tpgs2	UTSW	18	25,273,630 (GRCm39)	missense	probably damaging	1.00
R1974:Tpgs2	UTSW	18	25,273,593 (GRCm39)	missense	probably damaging	1.00
R2144:Tpgs2	UTSW	18	25,301,598 (GRCm39)	missense	possibly damaging	0.93
R4811:Tpgs2	UTSW	18	25,262,897 (GRCm39)	intron	probably benign
R4851:Tpgs2	UTSW	18	25,284,305 (GRCm39)	missense	possibly damaging	0.94
R6386:Tpgs2	UTSW	18	25,272,081 (GRCm39)	missense	possibly damaging	0.74
R6564:Tpgs2	UTSW	18	25,291,344 (GRCm39)	missense	probably damaging	0.99
R6788:Tpgs2	UTSW	18	25,262,927 (GRCm39)	missense	probably benign	0.04
R7112:Tpgs2	UTSW	18	25,282,194 (GRCm39)	missense	probably damaging	1.00
R7824:Tpgs2	UTSW	18	25,262,922 (GRCm39)	missense	probably benign
R8722:Tpgs2	UTSW	18	25,274,679 (GRCm39)	missense	probably benign	0.17
R8808:Tpgs2	UTSW	18	25,284,275 (GRCm39)	missense	probably damaging	1.00
R8818:Tpgs2	UTSW	18	25,291,365 (GRCm39)	missense	probably damaging	1.00
R9009:Tpgs2	UTSW	18	25,301,777 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16