Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Arel1'

707701

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

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84964922-85017674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84981371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 269 (G269S)

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

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

AlphaFold

Q8CHG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: G269S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: G269S

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: G269S

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

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: G269S

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

0.2056

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,903 (GRCm39)	S285P	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Cnksr1	T	C	4: 133,963,508 (GRCm39)	E58G	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,428,825 (GRCm39)	A362S	possibly damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,325,130 (GRCm39)	C325Y	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	Het
Zfp184	T	C	13: 22,144,411 (GRCm39)	C706R	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
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
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'- GGCAACCTGACCTTCTAATGG -3'
(R):5'- TCCCTTTAGGAAGTGTGAGGC -3'

Sequencing Primer
(F):5'- GGTCACTTCATGTACTACAAGGCAG -3'
(R):5'- CAGAAAGTGATACATGTGTCGTCAC -3'

Posted On

2022-04-18