Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Arel1'

354936

Institutional Source

Beutler Lab

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R4691 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84964922-85017674 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 84977023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

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

AlphaFold

Q8CHG5

Predicted Effect

probably null
Transcript: ENSMUST00000043169

SMART Domains

Protein: ENSMUSP00000048780
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	401	474	6e-39	BLAST
HECTc	481	823	1.04e-158	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000043169

SMART Domains

Protein: ENSMUSP00000048780
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	401	474	6e-39	BLAST
HECTc	481	823	1.04e-158	SMART

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

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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,384,195 (GRCm39)	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,647,523 (GRCm39)	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,537,159 (GRCm39)	S65P	probably benign	Het
Ap4e1	T	C	2: 126,903,791 (GRCm39)	C898R	probably benign	Het
Bag6	T	A	17: 35,358,224 (GRCm39)	V164D	probably damaging	Het
C2cd5	A	G	6: 142,975,874 (GRCm39)	S769P	possibly damaging	Het
Cables1	C	T	18: 11,973,580 (GRCm39)	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 41,755,516 (GRCm39)		noncoding transcript	Het
Ccz1	A	T	5: 143,928,380 (GRCm39)	I390N	possibly damaging	Het
Ceacam23	T	A	7: 17,642,891 (GRCm39)	S434T	possibly damaging	Het
Ces1a	T	C	8: 93,759,287 (GRCm39)	H283R	probably benign	Het
Clca3b	G	A	3: 144,544,853 (GRCm39)	T378I	probably benign	Het
Cpne2	A	T	8: 95,284,849 (GRCm39)	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,340,033 (GRCm39)	D141G	probably damaging	Het
Ddias	T	A	7: 92,508,024 (GRCm39)	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,179,619 (GRCm39)	T626A	probably damaging	Het
Disc1	T	C	8: 125,875,186 (GRCm39)	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,852,581 (GRCm39)	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epop	C	T	11: 97,519,719 (GRCm39)	G130D	possibly damaging	Het
Erap1	T	C	13: 74,821,811 (GRCm39)	L722P	probably damaging	Het
Eya4	T	A	10: 23,015,966 (GRCm39)	T334S	probably benign	Het
Ezr	T	C	17: 7,026,961 (GRCm39)	I5V	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143 (GRCm39)	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,918,408 (GRCm39)	L366*	probably null	Het
Gins4	T	A	8: 23,727,075 (GRCm39)	D6V	probably benign	Het
Grid1	A	G	14: 35,291,514 (GRCm39)	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,352,462 (GRCm39)		probably null	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,849,282 (GRCm39)	Y901F	probably damaging	Het
Irf2	T	A	8: 47,299,222 (GRCm39)	S339T	probably damaging	Het
Itgae	G	T	11: 73,010,345 (GRCm39)	G612*	probably null	Het
Kdr	T	C	5: 76,105,259 (GRCm39)	K1037R	possibly damaging	Het
Mro	A	T	18: 74,006,397 (GRCm39)	M115L	probably benign	Het
Myo5a	A	G	9: 75,087,438 (GRCm39)	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,580,350 (GRCm39)	M197L	probably benign	Het
Or7e165	T	C	9: 19,694,678 (GRCm39)	I83T	probably benign	Het
Pank2	T	A	2: 131,138,201 (GRCm39)	F430L	possibly damaging	Het
Pcx	T	A	19: 4,669,505 (GRCm39)	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556 (GRCm39)	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,004,781 (GRCm39)	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,817,028 (GRCm39)	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,773,640 (GRCm39)	M252T	probably benign	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,904,516 (GRCm39)	S123P	probably benign	Het
Robo3	T	C	9: 37,336,514 (GRCm39)	E418G	probably damaging	Het
Sos2	C	T	12: 69,663,102 (GRCm39)	R631H	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
St3gal2	C	T	8: 111,684,417 (GRCm39)	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851 (GRCm39)	A521T	probably benign	Het
Syt7	T	A	19: 10,403,845 (GRCm39)	L177Q	probably damaging	Het
Tet2	T	A	3: 133,191,844 (GRCm39)	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,572,237 (GRCm39)	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,979 (GRCm39)	E595A	probably damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,119 (GRCm39)	L815*	probably null	Het
Vmn2r81	C	T	10: 79,129,211 (GRCm39)	Q701*	probably null	Het
Vps13c	T	C	9: 67,860,217 (GRCm39)	V2811A	possibly damaging	Het
Vsig10l2	T	C	9: 35,428,158 (GRCm39)	S106G	possibly damaging	Het
Zfp354a	A	G	11: 50,961,064 (GRCm39)	E425G	probably damaging	Het
Zfp617	A	T	8: 72,686,659 (GRCm39)	T330S	probably benign	Het
Zfp663	G	T	2: 165,201,050 (GRCm39)		probably benign	Het
Zfp84	T	C	7: 29,476,505 (GRCm39)	L399P	probably damaging	Het
Zfp869	A	T	8: 70,159,513 (GRCm39)	C353*	probably null	Het
Zscan22	C	T	7: 12,640,488 (GRCm39)	A85V	probably benign	Het

Other mutations in Arel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Arel1	APN	12	84,980,936 (GRCm39)	missense	probably damaging	0.98
IGL01532:Arel1	APN	12	84,980,936 (GRCm39)	missense	possibly damaging	0.46
IGL01640:Arel1	APN	12	84,967,475 (GRCm39)	missense	probably damaging	1.00
IGL02522:Arel1	APN	12	84,974,684 (GRCm39)	missense	probably damaging	1.00
IGL02675:Arel1	APN	12	84,977,002 (GRCm39)	missense	probably damaging	1.00
IGL02867:Arel1	APN	12	84,981,097 (GRCm39)	missense	probably benign	0.01
IGL03231:Arel1	APN	12	84,981,084 (GRCm39)	missense	probably benign
R0244:Arel1	UTSW	12	84,967,467 (GRCm39)	missense	probably damaging	0.99
R0363:Arel1	UTSW	12	84,981,027 (GRCm39)	missense	probably damaging	1.00
R0538:Arel1	UTSW	12	84,988,611 (GRCm39)	missense	probably damaging	1.00
R1633:Arel1	UTSW	12	84,973,057 (GRCm39)	missense	probably damaging	1.00
R1965:Arel1	UTSW	12	84,987,173 (GRCm39)	critical splice acceptor site	probably null
R2161:Arel1	UTSW	12	84,968,030 (GRCm39)	critical splice donor site	probably null
R4958:Arel1	UTSW	12	84,973,078 (GRCm39)	missense	possibly damaging	0.89
R4999:Arel1	UTSW	12	84,978,541 (GRCm39)	missense	probably damaging	0.99
R5088:Arel1	UTSW	12	84,970,889 (GRCm39)	missense	probably damaging	1.00
R5154:Arel1	UTSW	12	84,978,547 (GRCm39)	missense	probably benign
R5939:Arel1	UTSW	12	84,973,066 (GRCm39)	missense	probably damaging	0.99
R5945:Arel1	UTSW	12	84,973,121 (GRCm39)	missense	probably benign	0.20
R6118:Arel1	UTSW	12	84,988,713 (GRCm39)	missense	possibly damaging	0.46
R6421:Arel1	UTSW	12	84,981,119 (GRCm39)	missense	probably damaging	1.00
R6458:Arel1	UTSW	12	84,987,159 (GRCm39)	missense	possibly damaging	0.87
R7290:Arel1	UTSW	12	84,988,719 (GRCm39)	missense	probably benign	0.08
R7490:Arel1	UTSW	12	84,988,685 (GRCm39)	missense	probably damaging	0.97
R7732:Arel1	UTSW	12	84,974,663 (GRCm39)	missense	probably benign	0.45
R7743:Arel1	UTSW	12	84,987,043 (GRCm39)	missense	probably damaging	1.00
R8021:Arel1	UTSW	12	84,981,732 (GRCm39)	missense	possibly damaging	0.47
R8083:Arel1	UTSW	12	84,987,136 (GRCm39)	missense	probably benign	0.00
R8899:Arel1	UTSW	12	84,981,017 (GRCm39)	missense	probably benign
R9344:Arel1	UTSW	12	84,981,371 (GRCm39)	missense	probably damaging	0.99
X0066:Arel1	UTSW	12	84,990,103 (GRCm39)	splice site	probably null
X0066:Arel1	UTSW	12	84,981,156 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCAAATACAGAAGAGCTTCTTAGC -3'
(R):5'- TGTTCACAAGCTCCTCACGC -3'

Sequencing Primer
(F):5'- GCTTCTTAGCTGCAGAACCTG -3'
(R):5'- TGGATGACGGCATTCAGC -3'

Posted On

2015-10-21