Mutagenetix > Incidental Mutations

Incidental Mutation 'R5088:Arel1'

387588

Institutional Source

Beutler Lab

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

MMRRC Submission

042677-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.617) question?

Stock #

R5088 (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 84924115 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 642 (L642P)

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: L642P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: L642P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163802

Meta Mutation Damage Score

0.9740

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,073	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480		probably null	Het
Abcc5	A	G	16: 20,376,662	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320		probably benign	Het
Atrip	T	C	9: 109,059,896	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608		probably null	Het
Cacng5	C	G	11: 107,877,389	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662		probably benign	Het
Cdhr1	T	A	14: 37,089,465	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327		probably benign	Het
Cenpj	T	C	14: 56,553,691	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,179,535	V360D	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350	H198L	probably damaging	Het
Dnaic1	T	A	4: 41,597,630	S38T	probably benign	Het
Dnaic1	T	G	4: 41,632,251	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357	T188K	probably damaging	Het
Ergic2	A	G	6: 148,183,123	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920		probably benign	Het
Gins4	T	C	8: 23,237,068	E3G	possibly damaging	Het
Glis3	G	A	19: 28,531,579	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121	A445V	probably benign	Het
Hykk	A	G	9: 54,946,479	I362V	probably benign	Het
Il6st	G	A	13: 112,490,555	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144	I249N	possibly damaging	Het
Olfr1408	C	T	1: 173,131,039	M59I	probably damaging	Het
Olfr849	A	G	9: 19,441,771	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152		probably null	Het
Spata7	A	T	12: 98,669,502	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661	T1477A	probably benign	Het
Srl	C	A	16: 4,482,769	D375Y	probably damaging	Het
Stk4	A	T	2: 164,083,688	K58*	probably null	Het
Svep1	T	G	4: 58,120,648	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Zfp13	C	A	17: 23,577,061	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176	S546P	probably damaging	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
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
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'- AACCAGCTCATTCAAGCCTG -3'
(R):5'- AGTGGTGTGAGCCCTGAAAG -3'

Sequencing Primer
(F):5'- GTATCCAAGTTAGAGCCAGACTGC -3'
(R):5'- TGTGAGCCCTGAAAGTCAGTAAC -3'

Posted On

2016-06-06