Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00928:Arel1'

28733

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

IGL00928

Quality Score

Status

Chromosome

Chromosomal Location

84918148-84970900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84934162 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 357 (V357E)

Ref Sequence

ENSEMBL: ENSMUSP00000129213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: V357E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: V357E

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
IG_FLMN	56	160	4.53e-2	SMART
low complexity region	346	360	N/A	INTRINSIC
Blast:HECTc	401	474	6e-39	BLAST
HECTc	481	823	1.04e-158	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163231
AA Change: V357E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: V357E

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
IG_FLMN	56	160	4.53e-2	SMART
low complexity region	346	360	N/A	INTRINSIC
Blast:HECTc	386	474	1e-51	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163372

SMART Domains

Protein: ENSMUSP00000130259
Gene: ENSMUSG00000042350

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Blast:IG_FLMN	56	81	7e-13	BLAST
SCOP:d1qfha1	56	81	4e-6	SMART

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
Abcc5	A	T	16: 20,398,970		probably benign	Het
Ablim3	T	C	18: 61,849,406	E156G	possibly damaging	Het
Adgrb2	A	G	4: 129,992,303	T79A	probably benign	Het
Asph	T	C	4: 9,594,675	I241V	probably benign	Het
B3galt2	A	G	1: 143,647,155	Y343C	probably damaging	Het
Brf1	A	G	12: 112,963,600		probably benign	Het
Col3a1	A	G	1: 45,340,858		probably benign	Het
Cps1	A	C	1: 67,123,234	T24P	probably benign	Het
Cyp3a25	A	G	5: 145,986,954	L293P	possibly damaging	Het
Engase	C	A	11: 118,482,970	R313S	possibly damaging	Het
Espn	A	G	4: 152,135,602	S28P	probably damaging	Het
Gm732	T	A	X: 107,945,843	E488V	possibly damaging	Het
Gnas	T	A	2: 174,297,953	L31*	probably null	Het
Gorasp2	A	G	2: 70,690,864	T393A	probably benign	Het
Gpc6	T	A	14: 116,925,958	V8E	possibly damaging	Het
Gtf2a1l	T	C	17: 88,694,462	S202P	probably benign	Het
Gucy1a2	T	C	9: 3,759,777	F528L	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Igsf10	T	C	3: 59,330,597	H721R	probably benign	Het
Kcnu1	T	C	8: 25,849,735	F27S	probably damaging	Het
Mprip	T	A	11: 59,744,752	W366R	probably damaging	Het
Myom1	T	C	17: 71,089,913	V954A	probably damaging	Het
Nudt13	T	C	14: 20,316,163	I303T	possibly damaging	Het
Olfr91	A	C	17: 37,093,332	S181A	probably benign	Het
Olfr982	T	A	9: 40,074,776	H160Q	probably damaging	Het
Orc4	A	G	2: 48,910,269	V289A	probably benign	Het
Pamr1	C	A	2: 102,639,341	Q411K	probably benign	Het
Pdcl	A	G	2: 37,357,374	M1T	probably null	Het
Phf20	T	C	2: 156,304,816		probably null	Het
Pla2r1	T	C	2: 60,535,080	S49G	probably damaging	Het
Ppp2r3c	A	G	12: 55,292,498		probably null	Het
Rdh14	G	A	12: 10,394,803	S218N	probably damaging	Het
Rfx4	A	G	10: 84,840,114	R16G	probably benign	Het
Scarb2	A	C	5: 92,446,344	F453C	probably damaging	Het
Sh2d7	A	G	9: 54,541,231	T179A	probably benign	Het
Spag6l	C	T	16: 16,767,013	A424T	possibly damaging	Het
Trim71	T	C	9: 114,525,015	D307G	probably benign	Het
Ufl1	A	T	4: 25,267,790	L294M	probably damaging	Het
Wdr93	C	A	7: 79,775,553	P540Q	probably damaging	Het

Other mutations in Arel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Arel1	APN	12	84934162	missense	possibly damaging	0.46
IGL01640:Arel1	APN	12	84920701	missense	probably damaging	1.00
IGL02522:Arel1	APN	12	84927910	missense	probably damaging	1.00
IGL02675:Arel1	APN	12	84930228	missense	probably damaging	1.00
IGL02867:Arel1	APN	12	84934323	missense	probably benign	0.01
IGL03231:Arel1	APN	12	84934310	missense	probably benign
R0244:Arel1	UTSW	12	84920693	missense	probably damaging	0.99
R0363:Arel1	UTSW	12	84934253	missense	probably damaging	1.00
R0538:Arel1	UTSW	12	84941837	missense	probably damaging	1.00
R1633:Arel1	UTSW	12	84926283	missense	probably damaging	1.00
R1965:Arel1	UTSW	12	84940399	critical splice acceptor site	probably null
R2161:Arel1	UTSW	12	84921256	critical splice donor site	probably null
R4691:Arel1	UTSW	12	84930249	splice site	probably null
R4958:Arel1	UTSW	12	84926304	missense	possibly damaging	0.89
R4999:Arel1	UTSW	12	84931767	missense	probably damaging	0.99
R5088:Arel1	UTSW	12	84924115	missense	probably damaging	1.00
R5154:Arel1	UTSW	12	84931773	missense	probably benign
R5939:Arel1	UTSW	12	84926292	missense	probably damaging	0.99
R5945:Arel1	UTSW	12	84926347	missense	probably benign	0.20
R6118:Arel1	UTSW	12	84941939	missense	possibly damaging	0.46
R6421:Arel1	UTSW	12	84934345	missense	probably damaging	1.00
R6458:Arel1	UTSW	12	84940385	missense	possibly damaging	0.87
R7290:Arel1	UTSW	12	84941945	missense	probably benign	0.08
R7490:Arel1	UTSW	12	84941911	missense	probably damaging	0.97
R7732:Arel1	UTSW	12	84927889	missense	probably benign	0.45
R7743:Arel1	UTSW	12	84940269	missense	probably damaging	1.00
R8021:Arel1	UTSW	12	84934958	missense	possibly damaging	0.47
R8083:Arel1	UTSW	12	84940362	missense	probably benign	0.00
X0066:Arel1	UTSW	12	84934382	missense	probably damaging	0.99
X0066:Arel1	UTSW	12	84943329	splice site	probably null

Posted On

2013-04-17