Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84964922-85017674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84970889 bp (GRCm39)

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]

AlphaFold

Q8CHG5

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: 109,883,939 (GRCm39)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,217,038 (GRCm39)	R246G	probably benign	Het
Aak1	T	C	6: 86,921,462 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,412 (GRCm39)	L695P	probably damaging	Het
Alcam	T	A	16: 52,109,290 (GRCm39)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,478,969 (GRCm39)		probably benign	Het
Atrip	T	C	9: 108,888,964 (GRCm39)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,723,659 (GRCm39)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,496,337 (GRCm39)		probably null	Het
Cacng5	C	G	11: 107,768,215 (GRCm39)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,101,859 (GRCm39)		probably benign	Het
Cdhr1	T	A	14: 36,811,422 (GRCm39)	T230S	probably benign	Het
Cdk16	T	C	X: 20,562,566 (GRCm39)		probably benign	Het
Cenpj	T	C	14: 56,791,148 (GRCm39)	E337G	probably damaging	Het
Chd9	A	G	8: 91,704,147 (GRCm39)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,312,607 (GRCm39)	V360D	probably damaging	Het
Col16a1	C	T	4: 129,972,988 (GRCm39)	T643M	probably benign	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,402,509 (GRCm39)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm39)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm39)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm39)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,084,621 (GRCm39)	V304A	probably damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbxo7	A	G	10: 85,857,784 (GRCm39)		probably benign	Het
Gins4	T	C	8: 23,727,084 (GRCm39)	E3G	possibly damaging	Het
Glis3	G	A	19: 28,508,979 (GRCm39)	P335L	probably benign	Het
Golph3l	A	T	3: 95,524,501 (GRCm39)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,722,181 (GRCm39)	A445V	probably benign	Het
Hykk	A	G	9: 54,853,763 (GRCm39)	I362V	probably benign	Het
Il6st	G	A	13: 112,627,089 (GRCm39)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,366,348 (GRCm39)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,252,936 (GRCm39)	L501P	probably benign	Het
Mpi	G	A	9: 57,457,887 (GRCm39)	T105M	probably damaging	Het
Mrpl37	A	T	4: 106,921,919 (GRCm39)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,350,056 (GRCm39)	T600S	possibly damaging	Het
Npl	A	T	1: 153,384,890 (GRCm39)	I249N	possibly damaging	Het
Or10j27	C	T	1: 172,958,606 (GRCm39)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,353,067 (GRCm39)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,809,812 (GRCm39)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,080,095 (GRCm39)	N235D	probably benign	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,586,340 (GRCm39)	Q33L	probably benign	Het
Rif1	A	T	2: 51,982,307 (GRCm39)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,771,790 (GRCm39)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,727,129 (GRCm39)	G2411*	probably null	Het
Scn3a	A	T	2: 65,302,643 (GRCm39)	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,382,196 (GRCm39)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Skint7	T	C	4: 111,837,627 (GRCm39)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,738,343 (GRCm39)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,848,966 (GRCm39)		probably null	Het
Spata7	A	T	12: 98,635,761 (GRCm39)	D527V	probably benign	Het
Srcap	A	G	7: 127,140,833 (GRCm39)	T1477A	probably benign	Het
Srl	C	A	16: 4,300,633 (GRCm39)	D375Y	probably damaging	Het
Stk4	A	T	2: 163,925,608 (GRCm39)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm39)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,974,967 (GRCm39)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,933,904 (GRCm39)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,283,473 (GRCm39)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,690,454 (GRCm39)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,168,601 (GRCm39)	D55G	possibly damaging	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Zfp13	C	A	17: 23,796,035 (GRCm39)	E179*	probably null	Het
Zfp839	T	C	12: 110,834,610 (GRCm39)	S546P	probably damaging	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
R4691:Arel1	UTSW	12	84,977,023 (GRCm39)	splice 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
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'- AACCAGCTCATTCAAGCCTG -3'
(R):5'- AGTGGTGTGAGCCCTGAAAG -3'

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

Posted On

2016-06-06