Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Arel1'

596689

Institutional Source

Beutler Lab

Gene Symbol

Arel1

Ensembl Gene

ENSMUSG00000042350

Gene Name

apoptosis resistant E3 ubiquitin protein ligase 1

Synonyms

1110018G07Rik

MMRRC Submission

045799-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84964922-85017674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84987043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 124 (N124K)

Ref Sequence

ENSEMBL: ENSMUSP00000048780 (fasta)

Gene Model

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

AlphaFold

Q8CHG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043169
AA Change: N124K

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

SMART Domains

Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: N124K

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: N124K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: N124K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165093

SMART Domains

Protein: ENSMUSP00000129147
Gene: ENSMUSG00000042350

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165886

SMART Domains

Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167448

SMART Domains

Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169161
AA Change: N124K

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

SMART Domains

Protein: ENSMUSP00000126523
Gene: ENSMUSG00000042350
AA Change: N124K

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

Meta Mutation Damage Score

0.3585

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,516 (GRCm39)	E1235G	probably damaging	Het
Abtb3	A	T	10: 85,460,813 (GRCm39)	I569F	possibly damaging	Het
Adam6a	A	G	12: 113,508,152 (GRCm39)	D175G	probably benign	Het
Adgrf4	A	T	17: 42,983,453 (GRCm39)	C76*	probably null	Het
Agbl3	C	T	6: 34,823,765 (GRCm39)	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,748,383 (GRCm39)	V488A	not run	Het
Akip1	T	A	7: 109,311,035 (GRCm39)	S192T	probably benign	Het
Apc2	G	A	10: 80,140,749 (GRCm39)	M201I	probably damaging	Het
Atp10a	A	T	7: 58,453,457 (GRCm39)	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,599,634 (GRCm39)	Y586H	probably benign	Het
BC051019	A	G	7: 109,315,266 (GRCm39)	Y330H	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chek2	T	G	5: 110,987,916 (GRCm39)		probably null	Het
Cldn14	A	G	16: 93,716,615 (GRCm39)	L77S	probably damaging	Het
Cox15	T	C	19: 43,728,380 (GRCm39)	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,305,607 (GRCm39)	D369E	probably benign	Het
Cpxm1	T	C	2: 130,235,342 (GRCm39)	N550S	probably benign	Het
Csdc2	A	G	15: 81,833,399 (GRCm39)	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,669,702 (GRCm39)	C219S	probably damaging	Het
Erbb4	T	C	1: 68,367,278 (GRCm39)	T480A	probably benign	Het
Fndc1	G	A	17: 7,983,969 (GRCm39)	T1319I	unknown	Het
Gm5773	T	G	3: 93,680,565 (GRCm39)	V79G	probably damaging	Het
Hsf2	G	A	10: 57,387,431 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,238,608 (GRCm39)	T64A	probably damaging	Het
Kifc5b	T	C	17: 27,143,176 (GRCm39)	V316A	probably damaging	Het
Ktn1	A	G	14: 47,907,750 (GRCm39)	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,716,206 (GRCm39)	E143G	possibly damaging	Het
Mroh9	C	T	1: 162,852,122 (GRCm39)	E856K	probably benign	Het
Muc16	T	C	9: 18,568,773 (GRCm39)	T1249A	unknown	Het
Myh6	G	A	14: 55,194,607 (GRCm39)	R721W	probably damaging	Het
Myo6	A	T	9: 80,183,611 (GRCm39)	I669F	unknown	Het
N4bp2	A	G	5: 65,965,802 (GRCm39)	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,724 (GRCm39)	M1T	probably null	Het
Obscn	C	T	11: 58,990,603 (GRCm39)	V1657M	probably damaging	Het
Olfr908	A	G	9: 38,427,624 (GRCm39)	T99A	possibly damaging	Het
Or52a20	A	G	7: 103,366,560 (GRCm39)	E253G	possibly damaging	Het
Or52p2	A	T	7: 102,237,638 (GRCm39)	F104Y	probably benign	Het
Otud6b	C	A	4: 14,818,389 (GRCm39)	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 33,892,256 (GRCm39)	D204E	probably benign	Het
Pdia2	T	C	17: 26,417,842 (GRCm39)	S56G	probably benign	Het
Plcxd1	G	A	5: 110,250,369 (GRCm39)	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,501,712 (GRCm39)	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,586,594 (GRCm39)	F937L	possibly damaging	Het
Pth2	A	T	7: 44,830,733 (GRCm39)	M6L	probably benign	Het
Ptprd	T	A	4: 76,004,326 (GRCm39)	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,492,427 (GRCm39)	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,494,775 (GRCm39)	D300E	probably benign	Het
Rock2	G	A	12: 17,026,048 (GRCm39)	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,683,790 (GRCm39)	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,216 (GRCm39)	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,293,227 (GRCm39)	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,007,088 (GRCm39)	V207I	probably damaging	Het
Sipa1l2	T	C	8: 126,190,972 (GRCm39)	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,661,201 (GRCm39)	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,535,159 (GRCm39)	F106I	probably damaging	Het
Snx14	A	T	9: 88,280,402 (GRCm39)	S518T	probably benign	Het
Sp2	T	C	11: 96,851,935 (GRCm39)	T330A	probably damaging	Het
Spata13	A	T	14: 60,993,698 (GRCm39)	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,703,201 (GRCm39)	V23G	possibly damaging	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tars1	A	C	15: 11,399,458 (GRCm39)		probably null	Het
Tead3	T	A	17: 28,551,801 (GRCm39)	T431S	probably benign	Het
Tiam2	G	A	17: 3,568,431 (GRCm39)	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,524,891 (GRCm39)	P12L	probably benign	Het
Topaz1	A	G	9: 122,614,201 (GRCm39)	H1207R	probably benign	Het
Trdn	G	T	10: 33,133,058 (GRCm39)	E107*	probably null	Het
Trp63	A	G	16: 25,701,375 (GRCm39)	N483S	probably benign	Het
Trpm4	A	G	7: 44,957,762 (GRCm39)	S1009P	probably benign	Het
Trpm6	T	C	19: 18,804,772 (GRCm39)	V908A	probably benign	Het
Tsen34	A	T	7: 3,697,601 (GRCm39)	M25L	possibly damaging	Het
Ttn	T	C	2: 76,781,827 (GRCm39)	E1073G	unknown	Het
Uaca	A	T	9: 60,783,677 (GRCm39)	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,774,793 (GRCm39)	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,094,117 (GRCm39)	M115K	probably benign	Het
Unc45b	A	T	11: 82,813,726 (GRCm39)	I378F	probably damaging	Het
Unk	G	A	11: 115,940,262 (GRCm39)	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,542,376 (GRCm39)	L3314Q	probably benign	Het
Vezt	A	G	10: 93,816,286 (GRCm39)	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,564,772 (GRCm39)	Q220*	probably null	Het
Yap1	T	C	9: 7,962,379 (GRCm39)	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,813,467 (GRCm39)	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,060,217 (GRCm39)	C374G	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
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'- CAGAGTCCATACTTAGCAGGAGG -3'
(R):5'- CCCTTCTGTACTAATGGGTGCC -3'

Sequencing Primer
(F):5'- TACTTAGCAGGAGGCCCTAGATC -3'
(R):5'- CCACCCCTCTCTTCCATTGCAG -3'

Posted On

2019-11-26