Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02522:Arel1'

296920

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: 0.523) question?

Stock #

IGL02522

Quality Score

Status

Chromosome

Chromosomal Location

84918148-84970900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84927910 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 486 (D486G)

Ref Sequence

ENSEMBL: ENSMUSP00000129213 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: D486G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: D486G

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

noncoding transcript
Transcript: ENSMUST00000116345

Predicted Effect

probably damaging
Transcript: ENSMUST00000163231
AA Change: D486G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: D486G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 79,067,799	S228P	probably benign	Het
Apba1	T	C	19: 23,912,445		probably benign	Het
BC030867	T	C	11: 102,257,920	S386P	possibly damaging	Het
Celf1	T	C	2: 91,009,301	V357A	possibly damaging	Het
Chd6	T	C	2: 160,965,796	S1833G	probably benign	Het
Ctsa	T	C	2: 164,839,141		probably benign	Het
Dclk2	G	A	3: 86,920,116	P19S	probably benign	Het
Dpp10	T	C	1: 123,423,652	H308R	probably benign	Het
Dst	A	T	1: 34,250,700		probably benign	Het
Enpp2	A	T	15: 54,898,940	M201K	probably damaging	Het
Epha7	A	T	4: 28,821,494	T220S	possibly damaging	Het
Grip1	A	G	10: 119,931,249	D93G	probably damaging	Het
Hipk3	T	C	2: 104,471,331	K172R	probably damaging	Het
Iqgap3	A	G	3: 88,108,398	N29S	possibly damaging	Het
Lyst	T	C	13: 13,634,705	V320A	possibly damaging	Het
Magi1	T	C	6: 93,678,636	D1127G	possibly damaging	Het
Pkhd1l1	A	T	15: 44,555,902	D2921V	possibly damaging	Het
Pla2r1	T	A	2: 60,428,669	Y1125F	probably benign	Het
Psg20	T	A	7: 18,682,431	L253F	probably benign	Het
Rdx	A	G	9: 52,068,204	K209R	possibly damaging	Het
Rpsa	A	T	9: 120,131,055	Q228L	possibly damaging	Het
Slc10a5	T	C	3: 10,335,121	I160V	probably benign	Het
Tec	C	T	5: 72,789,172	V71I	probably benign	Het
Tln1	T	C	4: 43,540,612	E1463G	probably benign	Het
Trim12a	C	T	7: 104,300,831		probably null	Het
Vcan	G	T	13: 89,704,849	T664K	probably benign	Het

Other mutations in Arel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Arel1	APN	12	84934162	missense	probably damaging	0.98
IGL01532:Arel1	APN	12	84934162	missense	possibly damaging	0.46
IGL01640:Arel1	APN	12	84920701	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

2015-04-16