Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01294:Arglu1'

73035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arglu1

Ensembl Gene

ENSMUSG00000040459

Gene Name

arginine and glutamate rich 1

Synonyms

9430010O03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

IGL01294

Quality Score

Status

Chromosome

Chromosomal Location

8715075-8740521 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 8733739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048545] [ENSMUST00000207817]

AlphaFold

Q3UL36

Predicted Effect

probably benign
Transcript: ENSMUST00000048545

SMART Domains

Protein: ENSMUSP00000039493
Gene: ENSMUSG00000040459

Domain	Start	End	E-Value	Type
low complexity region	3	75	N/A	INTRINSIC
low complexity region	95	113	N/A	INTRINSIC
Pfam:ARGLU	117	267	8.2e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207070

Predicted Effect

probably benign
Transcript: ENSMUST00000207817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,291 (GRCm39)	S101T	probably benign	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Cacna2d2	T	G	9: 107,391,280 (GRCm39)	Y436D	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cpne8	G	A	15: 90,385,648 (GRCm39)	S460L	probably damaging	Het
Crat	G	A	2: 30,295,199 (GRCm39)	A436V	probably damaging	Het
Dmd	T	C	X: 83,475,604 (GRCm39)		probably null	Het
Emilin2	G	T	17: 71,581,589 (GRCm39)	A379E	probably benign	Het
Ercc2	A	G	7: 19,124,342 (GRCm39)	I445V	probably benign	Het
Evc2	T	C	5: 37,504,854 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,392,711 (GRCm39)	K1100*	probably null	Het
Gm4353	T	A	7: 115,683,077 (GRCm39)	D168V	possibly damaging	Het
Hsf4	G	T	8: 106,002,289 (GRCm39)	*417L	probably null	Het
Kmt2a	A	G	9: 44,731,594 (GRCm39)		probably benign	Het
Macroh2a1	A	T	13: 56,222,113 (GRCm39)	V346E	probably damaging	Het
Mpzl1	A	G	1: 165,421,177 (GRCm39)	S261P	probably damaging	Het
Mre11a	T	C	9: 14,742,211 (GRCm39)	S621P	probably damaging	Het
Muc6	T	C	7: 141,232,926 (GRCm39)	Y934C	probably damaging	Het
Naip5	A	G	13: 100,353,588 (GRCm39)	S1224P	probably damaging	Het
Nwd1	A	T	8: 73,438,373 (GRCm39)	N1474Y	probably damaging	Het
Or2ag20	T	C	7: 106,464,970 (GRCm39)	L261S	probably damaging	Het
Ptbp2	A	G	3: 119,541,461 (GRCm39)	V192A	probably damaging	Het
Rfx2	T	C	17: 57,090,657 (GRCm39)	Y421C	probably damaging	Het
Sfmbt2	T	A	2: 10,595,232 (GRCm39)		probably benign	Het
Slc4a10	A	C	2: 62,083,653 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,987,506 (GRCm39)	M734V	probably benign	Het
Tap1	T	C	17: 34,413,019 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,067,114 (GRCm39)		probably benign	Het
Uba6	T	A	5: 86,297,907 (GRCm39)	I256L	possibly damaging	Het
Wnt3	A	T	11: 103,699,140 (GRCm39)	H82L	possibly damaging	Het

Other mutations in Arglu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03053:Arglu1	APN	8	8,733,960 (GRCm39)	missense	probably benign	0.16
IGL03168:Arglu1	APN	8	8,733,960 (GRCm39)	missense	probably benign	0.16
R1671:Arglu1	UTSW	8	8,733,896 (GRCm39)	missense	possibly damaging	0.51
R5212:Arglu1	UTSW	8	8,733,843 (GRCm39)	missense	probably damaging	0.99
R5933:Arglu1	UTSW	8	8,740,047 (GRCm39)	missense	probably benign	0.18
R7078:Arglu1	UTSW	8	8,717,361 (GRCm39)	missense	probably benign	0.11
R7885:Arglu1	UTSW	8	8,717,337 (GRCm39)	missense	possibly damaging	0.95
R9161:Arglu1	UTSW	8	8,733,941 (GRCm39)	missense	possibly damaging	0.85

Posted On

2013-10-07