Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03053:Arglu1'

409134

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: 0.933) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

8715075-8740521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8733960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 119 (I119L)

Ref Sequence

ENSEMBL: ENSMUSP00000039493 (fasta)

Gene Model

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

AlphaFold

Q3UL36

Predicted Effect

probably benign
Transcript: ENSMUST00000048545
AA Change: I119L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039493
Gene: ENSMUSG00000040459
AA Change: I119L

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

unknown
Transcript: ENSMUST00000207817
AA Change: I117L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,613,050 (GRCm39)	Q342*	probably null	Het
Atp1a2	G	A	1: 172,105,923 (GRCm39)	T914I	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 156,050,921 (GRCm39)	N297Y	probably damaging	Het
Cgas	A	T	9: 78,344,719 (GRCm39)	F234Y	probably benign	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Dis3	A	G	14: 99,336,170 (GRCm39)	V112A	probably benign	Het
Ehd3	A	G	17: 74,112,437 (GRCm39)	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,108,691 (GRCm39)	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,650,126 (GRCm39)	V252G	probably benign	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Hnf1a	T	A	5: 115,108,792 (GRCm39)	M38L	probably benign	Het
Kif13a	T	C	13: 46,905,564 (GRCm39)	N793S	probably benign	Het
Kit	A	G	5: 75,771,574 (GRCm39)	N244D	probably benign	Het
Mgat5b	A	G	11: 116,814,276 (GRCm39)	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,469,723 (GRCm39)	H1098R	probably benign	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4c123	A	C	2: 89,126,789 (GRCm39)	I275S	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or6d15	T	C	6: 116,559,206 (GRCm39)	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,281,664 (GRCm39)	I42T	probably damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,457,362 (GRCm39)		probably benign	Het
Rc3h1	T	A	1: 160,783,387 (GRCm39)	D734E	probably benign	Het
Rtel1	A	G	2: 180,993,737 (GRCm39)	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,168,597 (GRCm39)	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833 (GRCm39)	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,239,933 (GRCm39)	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,800,077 (GRCm39)	Y755C	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het
Zng1	T	A	19: 24,932,741 (GRCm39)	E97D	probably damaging	Het
Zzef1	G	T	11: 72,722,365 (GRCm39)		probably benign	Het

Other mutations in Arglu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Arglu1	APN	8	8,733,739 (GRCm39)	splice site	probably benign
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

2016-08-02