Mutagenetix > Incidental Mutations

Incidental Mutation 'R1633:Arel1'

172936

Institutional Source

Beutler Lab

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

MMRRC Submission

039670-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84918148-84970900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84926283 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 580 (F580S)

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: F580S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: F580S

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 benign
Transcript: ENSMUST00000163231

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350

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

Meta Mutation Damage Score

0.9547

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,753,855	A185V	probably benign	Het
Acsl6	T	C	11: 54,328,398		probably benign	Het
Arhgef19	T	C	4: 141,238,560		probably benign	Het
Bpifb3	T	A	2: 153,922,584	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,320,116	D516E	probably damaging	Het
Ccar1	T	C	10: 62,751,014	R882G	unknown	Het
Cep162	T	C	9: 87,203,683	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,418,815	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,167	S231T	probably damaging	Het
Dgcr14	A	G	16: 17,909,967	V116A	probably benign	Het
Dock8	A	G	19: 25,051,563	T44A	probably benign	Het
Edrf1	T	C	7: 133,652,140	S536P	probably damaging	Het
Eif5	T	A	12: 111,540,287	N104K	probably damaging	Het
Enpp3	T	C	10: 24,795,782	Y438C	probably damaging	Het
Fam208b	A	T	13: 3,581,771	I910N	possibly damaging	Het
Galnt4	T	C	10: 99,109,952	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,448,513	I172T	probably benign	Het
Ggt7	C	T	2: 155,502,688	G245D	probably damaging	Het
Gm5884	A	T	6: 128,646,065		noncoding transcript	Het
Herc2	G	A	7: 56,229,369	G4669R	probably null	Het
Hydin	T	A	8: 110,506,982	D1817E	probably benign	Het
Igf2r	A	C	17: 12,726,309	N359K	probably benign	Het
Itgb4	T	C	11: 116,007,760	F1722L	probably damaging	Het
Itih3	T	A	14: 30,917,398	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,141,698	C514*	probably null	Het
Mepe	G	T	5: 104,337,674	V227F	probably benign	Het
Nadk	C	T	4: 155,577,185	T56I	probably damaging	Het
Nedd4	G	A	9: 72,671,257	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,447,348	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,612,981	R27G	probably benign	Het
Noc2l	T	A	4: 156,245,293	S600T	probably benign	Het
Olfr15	A	C	16: 3,839,532	K186N	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,971	I253N	probably damaging	Het
Olfr98	T	A	17: 37,263,662	M1L	probably benign	Het
Pax6	A	T	2: 105,691,718	E240V	probably damaging	Het
Pdilt	T	G	7: 119,487,994	T478P	probably damaging	Het
Phldb1	T	A	9: 44,718,322	I25F	probably damaging	Het
Rad50	C	T	11: 53,692,859	R365Q	probably benign	Het
Rdh10	A	G	1: 16,128,196	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,218,724	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964	V413A	possibly damaging	Het
Scn8a	A	G	15: 101,029,815	I1392V	probably benign	Het
Simc1	G	A	13: 54,525,231	G464D	probably benign	Het
Srf	A	T	17: 46,551,608	V318E	probably damaging	Het
Stab1	T	C	14: 31,150,380		probably null	Het
Stk3	T	C	15: 34,959,060	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,540,160		probably benign	Het
Sult2a1	A	G	7: 13,801,426	I234T	probably benign	Het
Syne1	A	G	10: 5,349,388	F956L	probably damaging	Het
Thsd7a	G	T	6: 12,471,104	S505*	probably null	Het
Tmem63a	T	A	1: 180,948,826	V67E	probably damaging	Het
Tram2	A	T	1: 21,003,922	V264E	probably damaging	Het
Trpv5	A	T	6: 41,675,920	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,645	K385*	probably null	Het
Vezt	T	A	10: 93,984,276	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 87,037,834	C808R	possibly damaging	Het
Wdfy3	A	C	5: 101,981,548	V4G	probably damaging	Het
Wdr95	A	T	5: 149,593,172	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,400,413	N1877I	probably damaging	Het
Zfp180	A	G	7: 24,104,801	D215G	probably benign	Het
Zfp442	A	T	2: 150,408,340	Y490*	probably null	Het
Zfp804b	A	G	5: 7,179,513		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
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
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

Predicted Primers

PCR Primer
(F):5'- GGACACCCTTTGCCATGAATGGAAC -3'
(R):5'- TCAGTAGCCTGAACGCTACAGACG -3'

Sequencing Primer
(F):5'- agcaggcaaaacacacatac -3'
(R):5'- tgctctgggttggggac -3'

Posted On

2014-04-24