Incidental Mutation 'R1633:Arel1'
ID 172936
Institutional Source Beutler Lab
Gene Symbol Arel1
Ensembl Gene ENSMUSG00000042350
Gene Name apoptosis resistant E3 ubiquitin protein ligase 1
Synonyms 1110018G07Rik
MMRRC Submission 039670-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R1633 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84964922-85017674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84973057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 580 (F580S)
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: F580S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: F580S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9547 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 83.9%
Validation Efficiency 94% (68/72)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,681,592 (GRCm39) A185V probably benign Het
Acsl6 T C 11: 54,219,224 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,965,871 (GRCm39) probably benign Het
Bpifb3 T A 2: 153,764,504 (GRCm39) L132Q probably damaging Het
Cacna2d1 T A 5: 16,525,114 (GRCm39) D516E probably damaging Het
Ccar1 T C 10: 62,586,793 (GRCm39) R882G unknown Het
Cep162 T C 9: 87,085,736 (GRCm39) E1196G probably benign Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Cttnbp2 A T 6: 18,435,166 (GRCm39) S231T probably damaging Het
Dock8 A G 19: 25,028,927 (GRCm39) T44A probably benign Het
Edrf1 T C 7: 133,253,869 (GRCm39) S536P probably damaging Het
Eif5 T A 12: 111,506,721 (GRCm39) N104K probably damaging Het
Enpp3 T C 10: 24,671,680 (GRCm39) Y438C probably damaging Het
Ess2 A G 16: 17,727,831 (GRCm39) V116A probably benign Het
Galnt4 T C 10: 98,945,814 (GRCm39) V513A possibly damaging Het
Gdpd5 T C 7: 99,097,720 (GRCm39) I172T probably benign Het
Ggt7 C T 2: 155,344,608 (GRCm39) G245D probably damaging Het
Gm5884 A T 6: 128,623,028 (GRCm39) noncoding transcript Het
Herc2 G A 7: 55,879,117 (GRCm39) G4669R probably null Het
Hydin T A 8: 111,233,614 (GRCm39) D1817E probably benign Het
Igf2r A C 17: 12,945,196 (GRCm39) N359K probably benign Het
Itgb4 T C 11: 115,898,586 (GRCm39) F1722L probably damaging Het
Itih3 T A 14: 30,639,355 (GRCm39) E406V possibly damaging Het
Lamc2 A T 1: 153,017,444 (GRCm39) C514* probably null Het
Mepe G T 5: 104,485,540 (GRCm39) V227F probably benign Het
Nadk C T 4: 155,661,642 (GRCm39) T56I probably damaging Het
Nedd4 G A 9: 72,578,539 (GRCm39) V84I possibly damaging Het
Nipal3 C A 4: 135,174,659 (GRCm39) R364L probably benign Het
Nkx2-9 T C 12: 56,659,766 (GRCm39) R27G probably benign Het
Noc2l T A 4: 156,329,750 (GRCm39) S600T probably benign Het
Or1l4b T A 2: 37,036,983 (GRCm39) I253N probably damaging Het
Or1o3 T A 17: 37,574,553 (GRCm39) M1L probably benign Het
Or2c1 A C 16: 3,657,396 (GRCm39) K186N probably damaging Het
Pax6 A T 2: 105,522,063 (GRCm39) E240V probably damaging Het
Pdilt T G 7: 119,087,217 (GRCm39) T478P probably damaging Het
Phldb1 T A 9: 44,629,619 (GRCm39) I25F probably damaging Het
Rad50 C T 11: 53,583,686 (GRCm39) R365Q probably benign Het
Rdh10 A G 1: 16,198,420 (GRCm39) E186G possibly damaging Het
Rdh12 A T 12: 79,265,498 (GRCm39) E224V probably damaging Het
Reck T C 4: 43,922,964 (GRCm39) V413A possibly damaging Het
Scn8a A G 15: 100,927,696 (GRCm39) I1392V probably benign Het
Simc1 G A 13: 54,673,044 (GRCm39) G464D probably benign Het
Srf A T 17: 46,862,534 (GRCm39) V318E probably damaging Het
Stab1 T C 14: 30,872,337 (GRCm39) probably null Het
Stk3 T C 15: 34,959,206 (GRCm39) D322G probably damaging Het
Stxbp4 A G 11: 90,430,986 (GRCm39) probably benign Het
Sult2a1 A G 7: 13,535,351 (GRCm39) I234T probably benign Het
Syne1 A G 10: 5,299,388 (GRCm39) F956L probably damaging Het
Tasor2 A T 13: 3,631,771 (GRCm39) I910N possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tmem63a T A 1: 180,776,391 (GRCm39) V67E probably damaging Het
Tram2 A T 1: 21,074,146 (GRCm39) V264E probably damaging Het
Trpv5 A T 6: 41,652,854 (GRCm39) C106* probably null Het
Tspyl5 T A 15: 33,686,791 (GRCm39) K385* probably null Het
Vezt T A 10: 93,820,138 (GRCm39) Q409L probably damaging Het
Vmn2r79 T C 7: 86,687,042 (GRCm39) C808R possibly damaging Het
Wdfy3 A C 5: 102,129,414 (GRCm39) V4G probably damaging Het
Wdr95 A T 5: 149,516,637 (GRCm39) I493F probably damaging Het
Zfhx4 A T 3: 5,465,473 (GRCm39) N1877I probably damaging Het
Zfp180 A G 7: 23,804,226 (GRCm39) D215G probably benign Het
Zfp442 A T 2: 150,250,260 (GRCm39) Y490* probably null Het
Zfp804b A G 5: 7,229,513 (GRCm39) probably benign Het
Other mutations in Arel1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGACACCCTTTGCCATGAATGGAAC -3'
(R):5'- TCAGTAGCCTGAACGCTACAGACG -3'

Sequencing Primer
(F):5'- agcaggcaaaacacacatac -3'
(R):5'- tgctctgggttggggac -3'
Posted On 2014-04-24