Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02867:Arel1'

362371

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 #

IGL02867

Quality Score

Status

Chromosome

Chromosomal Location

84918148-84970900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84934323 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 303 (N303K)

Ref Sequence

ENSEMBL: ENSMUSP00000129213 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043169
AA Change: N303K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: N303K

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 benign
Transcript: ENSMUST00000163231
AA Change: N303K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: N303K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	C	T	10: 82,283,820	S482N	probably damaging	Het
Abcf2	T	A	5: 24,571,151	Y310F	probably benign	Het
Adarb1	C	T	10: 77,313,541	V371I	probably benign	Het
Antxr2	G	T	5: 97,977,650	H249Q	probably benign	Het
Bloc1s6	T	C	2: 122,742,684	Y60H	probably damaging	Het
Ccdc125	A	T	13: 100,684,282		probably benign	Het
Cxcl16	A	T	11: 70,459,066	Y45N	possibly damaging	Het
Dnajb3	T	A	1: 88,205,527	Q51L	probably benign	Het
Ear10	A	G	14: 43,923,269	F34L	probably damaging	Het
Fgf11	A	G	11: 69,799,672	S100P	possibly damaging	Het
Fpgs	G	A	2: 32,685,879		probably benign	Het
Fyb	A	T	15: 6,580,046	Q33H	probably damaging	Het
Ints3	G	T	3: 90,392,836	H925N	probably damaging	Het
Krt16	T	C	11: 100,247,576	K249E	probably damaging	Het
Lrp2	A	T	2: 69,552,450	S30R	possibly damaging	Het
Naa35	T	C	13: 59,608,854		probably benign	Het
Olfr381	A	G	11: 73,485,991	Y278H	probably damaging	Het
Olfr743	A	G	14: 50,533,513	I34V	probably benign	Het
Olfr971	A	G	9: 39,840,237	M268V	probably benign	Het
Osbpl6	A	G	2: 76,595,870		probably benign	Het
Pramel6	A	T	2: 87,510,392	Q356L	probably damaging	Het
Prima1	A	G	12: 103,197,316	V132A	probably benign	Het
Psme1	A	G	14: 55,579,926		probably benign	Het
Rdh11	A	G	12: 79,189,054	V40A	possibly damaging	Het
Rin1	C	T	19: 5,053,170	R485C	probably damaging	Het
Rnf40	C	A	7: 127,591,429	S255*	probably null	Het
Spata24	C	A	18: 35,656,752	R194L	probably benign	Het
Tas1r1	A	T	4: 152,028,278	S773T	probably damaging	Het
Trdv5	G	T	14: 54,148,972		probably benign	Het
Trpc3	A	C	3: 36,640,701	D701E	probably benign	Het
Vim	A	G	2: 13,580,680	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,099,479	T111P	probably damaging	Het
Zbtb26	A	C	2: 37,436,249	N247K	probably benign	Het
Zfp629	T	G	7: 127,610,031		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
IGL02522:Arel1	APN	12	84927910	missense	probably damaging	1.00
IGL02675:Arel1	APN	12	84930228	missense	probably damaging	1.00
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

2015-12-18