Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

8665075-8690521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8683960 bp

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]

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: 106,755,853	Q342*	probably null	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in Arglu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Arglu1	APN	8	8683739	splice site	probably benign
IGL03168:Arglu1	APN	8	8683960	missense	probably benign	0.16
R1671:Arglu1	UTSW	8	8683896	missense	possibly damaging	0.51
R5212:Arglu1	UTSW	8	8683843	missense	probably damaging	0.99
R5933:Arglu1	UTSW	8	8690047	missense	probably benign	0.18
R7078:Arglu1	UTSW	8	8667361	missense	probably benign	0.11
R7885:Arglu1	UTSW	8	8667337	missense	possibly damaging	0.95

Posted On

2016-08-02