Mutagenetix > Incidental Mutations

Incidental Mutation 'R7490:Arel1'

580698

Institutional Source

Beutler Lab

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84918148-84970900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84941911 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 21 (F21L)

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372] [ENSMUST00000165093] [ENSMUST00000165886] [ENSMUST00000167448] [ENSMUST00000169161]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: F21L

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: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: F21L

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 damaging
Transcript: ENSMUST00000163372
AA Change: F21L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130259
Gene: ENSMUSG00000042350
AA Change: F21L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165093
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129147
Gene: ENSMUSG00000042350
AA Change: F21L

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165886
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350
AA Change: F21L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167448
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350
AA Change: F21L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169161
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126523
Gene: ENSMUSG00000042350
AA Change: F21L

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
IG_FLMN	56	160	4.53e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,163,230	D132G	possibly damaging	Het
Abca5	T	C	11: 110,277,611	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,256,600	Q549*	probably null	Het
Adcy4	A	G	14: 55,770,433	I893T	possibly damaging	Het
Ago1	A	T	4: 126,439,505	*858R	probably null	Het
Ank2	T	A	3: 126,958,889	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,648,300	T987A	probably benign	Het
Ap2a1	G	T	7: 44,902,789	N790K	probably benign	Het
Aqr	A	G	2: 114,158,868		probably null	Het
Atp1a3	T	C	7: 24,987,470	D743G	probably damaging	Het
Atp9a	A	T	2: 168,675,352	F354I	probably benign	Het
Bag6	A	G	17: 35,140,842	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,888,166		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,888,186		probably benign	Het
Bckdk	T	A	7: 127,904,973	S15T	unknown	Het
C4b	G	T	17: 34,731,080	Y1405*	probably null	Het
Camk4	G	A	18: 32,939,545		probably null	Het
Car11	T	A	7: 45,700,318	W16R	probably benign	Het
Ccdc80	A	C	16: 45,096,400	E506D	probably damaging	Het
Chmp6	C	T	11: 119,915,443	Q32*	probably null	Het
Colq	G	A	14: 31,545,086	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,477,285	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,786,657	I93L	unknown	Het
Dnaaf2	T	C	12: 69,197,606	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dnmt3a	G	A	12: 3,904,204	G792D	probably damaging	Het
Dsg4	T	A	18: 20,451,936		probably null	Het
Ecm2	C	T	13: 49,530,342	Q599*	probably null	Het
Fbxl13	T	A	5: 21,523,060	R550*	probably null	Het
Gm4302	A	T	10: 100,341,583	Q243L	unknown	Het
Gm7168	A	T	17: 13,949,013	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,647,491	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,571,141	D320E	probably damaging	Het
Hivep1	T	A	13: 42,157,650	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,718,934		probably null	Het
Irs1	T	A	1: 82,287,264	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,876,892	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,891,682	D318G	probably null	Het
L3mbtl3	C	T	10: 26,339,231	V194I	unknown	Het
Malt1	C	A	18: 65,448,211	Q237K	probably benign	Het
March11	C	T	15: 26,311,101	A221V	possibly damaging	Het
Mgea5	G	A	19: 45,767,447	R586*	probably null	Het
Nfe2l3	A	G	6: 51,457,544	I361M	possibly damaging	Het
Nrg1	G	A	8: 31,818,654	R493C	probably damaging	Het
Olfr1019	A	T	2: 85,840,963	V276E	probably damaging	Het
Olfr1212	A	C	2: 88,959,048	Y194S	probably benign	Het
Olfr453	T	C	6: 42,744,805	I256T	probably damaging	Het
Olfr577	G	A	7: 102,973,810	P61S	probably damaging	Het
Olfr828	A	T	9: 18,815,933	Y120*	probably null	Het
Olfr980	T	A	9: 40,006,424	H175L	probably damaging	Het
Orai3	C	T	7: 127,773,627	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066	M328L	probably benign	Het
Pan2	T	C	10: 128,308,440	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,916,265	D980V		Het
Ppp1r16b	T	C	2: 158,761,468	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,787,332	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,352,770	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,566,122	N494S	possibly damaging	Het
Rpl18a	T	C	8: 70,895,506	D147G	probably benign	Het
Scg3	T	C	9: 75,669,277	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 33,893,835	D184V	probably benign	Het
Simc1	T	G	13: 54,524,349	L170R	possibly damaging	Het
Slx4	T	C	16: 3,980,131	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,439,232		probably null	Het
Tas1r3	A	G	4: 155,862,023	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,182,520	D405G	probably damaging	Het
Tcerg1l	G	A	7: 138,259,828	P391S	probably damaging	Het
Tiam1	T	C	16: 89,898,195	S125G	probably benign	Het
Trim16	C	A	11: 62,834,123	H246N	probably damaging	Het
Tti1	T	A	2: 157,995,472	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,232,312	N395S	probably damaging	Het
Uggt1	T	C	1: 36,164,508	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,435,229	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,337,204	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,602,621		probably null	Het
Zcchc14	A	T	8: 121,605,017	S536T	unknown	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
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
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

Posted On

2019-10-17