Incidental Mutation 'IGL00928:Arel1'
ID28733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arel1
Ensembl Gene ENSMUSG00000042350
Gene Nameapoptosis resistant E3 ubiquitin protein ligase 1
Synonyms1110018G07Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.617) question?
Stock #IGL00928
Quality Score
Status
Chromosome12
Chromosomal Location84918148-84970900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84934162 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 357 (V357E)
Ref Sequence ENSEMBL: ENSMUSP00000129213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372]
Predicted Effect probably damaging
Transcript: ENSMUST00000043169
AA Change: V357E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: V357E

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 probably damaging
Transcript: ENSMUST00000163231
AA Change: V357E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: V357E

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
Predicted Effect probably benign
Transcript: ENSMUST00000163372
SMART Domains Protein: ENSMUSP00000130259
Gene: ENSMUSG00000042350

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Blast:IG_FLMN 56 81 7e-13 BLAST
SCOP:d1qfha1 56 81 4e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,398,970 probably benign Het
Ablim3 T C 18: 61,849,406 E156G possibly damaging Het
Adgrb2 A G 4: 129,992,303 T79A probably benign Het
Asph T C 4: 9,594,675 I241V probably benign Het
B3galt2 A G 1: 143,647,155 Y343C probably damaging Het
Brf1 A G 12: 112,963,600 probably benign Het
Col3a1 A G 1: 45,340,858 probably benign Het
Cps1 A C 1: 67,123,234 T24P probably benign Het
Cyp3a25 A G 5: 145,986,954 L293P possibly damaging Het
Engase C A 11: 118,482,970 R313S possibly damaging Het
Espn A G 4: 152,135,602 S28P probably damaging Het
Gm732 T A X: 107,945,843 E488V possibly damaging Het
Gnas T A 2: 174,297,953 L31* probably null Het
Gorasp2 A G 2: 70,690,864 T393A probably benign Het
Gpc6 T A 14: 116,925,958 V8E possibly damaging Het
Gtf2a1l T C 17: 88,694,462 S202P probably benign Het
Gucy1a2 T C 9: 3,759,777 F528L probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Igsf10 T C 3: 59,330,597 H721R probably benign Het
Kcnu1 T C 8: 25,849,735 F27S probably damaging Het
Mprip T A 11: 59,744,752 W366R probably damaging Het
Myom1 T C 17: 71,089,913 V954A probably damaging Het
Nudt13 T C 14: 20,316,163 I303T possibly damaging Het
Olfr91 A C 17: 37,093,332 S181A probably benign Het
Olfr982 T A 9: 40,074,776 H160Q probably damaging Het
Orc4 A G 2: 48,910,269 V289A probably benign Het
Pamr1 C A 2: 102,639,341 Q411K probably benign Het
Pdcl A G 2: 37,357,374 M1T probably null Het
Phf20 T C 2: 156,304,816 probably null Het
Pla2r1 T C 2: 60,535,080 S49G probably damaging Het
Ppp2r3c A G 12: 55,292,498 probably null Het
Rdh14 G A 12: 10,394,803 S218N probably damaging Het
Rfx4 A G 10: 84,840,114 R16G probably benign Het
Scarb2 A C 5: 92,446,344 F453C probably damaging Het
Sh2d7 A G 9: 54,541,231 T179A probably benign Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Trim71 T C 9: 114,525,015 D307G probably benign Het
Ufl1 A T 4: 25,267,790 L294M probably damaging Het
Wdr93 C A 7: 79,775,553 P540Q probably damaging Het
Other mutations in Arel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Arel1 APN 12 84934162 missense possibly damaging 0.46
IGL01640:Arel1 APN 12 84920701 missense probably damaging 1.00
IGL02522:Arel1 APN 12 84927910 missense probably damaging 1.00
IGL02675:Arel1 APN 12 84930228 missense probably damaging 1.00
IGL02867:Arel1 APN 12 84934323 missense probably benign 0.01
IGL03231:Arel1 APN 12 84934310 missense probably benign
R0244:Arel1 UTSW 12 84920693 missense probably damaging 0.99
R0363:Arel1 UTSW 12 84934253 missense probably damaging 1.00
R0538:Arel1 UTSW 12 84941837 missense probably damaging 1.00
R1633:Arel1 UTSW 12 84926283 missense probably damaging 1.00
R1965:Arel1 UTSW 12 84940399 critical splice acceptor site probably null
R2161:Arel1 UTSW 12 84921256 critical splice donor site probably null
R4691:Arel1 UTSW 12 84930249 splice site probably null
R4958:Arel1 UTSW 12 84926304 missense possibly damaging 0.89
R4999:Arel1 UTSW 12 84931767 missense probably damaging 0.99
R5088:Arel1 UTSW 12 84924115 missense probably damaging 1.00
R5154:Arel1 UTSW 12 84931773 missense probably benign
R5939:Arel1 UTSW 12 84926292 missense probably damaging 0.99
R5945:Arel1 UTSW 12 84926347 missense probably benign 0.20
R6118:Arel1 UTSW 12 84941939 missense possibly damaging 0.46
R6421:Arel1 UTSW 12 84934345 missense probably damaging 1.00
R6458:Arel1 UTSW 12 84940385 missense possibly damaging 0.87
R7290:Arel1 UTSW 12 84941945 missense probably benign 0.08
R7490:Arel1 UTSW 12 84941911 missense probably damaging 0.97
R7732:Arel1 UTSW 12 84927889 missense probably benign 0.45
R7743:Arel1 UTSW 12 84940269 missense probably damaging 1.00
R8021:Arel1 UTSW 12 84934958 missense possibly damaging 0.47
R8083:Arel1 UTSW 12 84940362 missense probably benign 0.00
X0066:Arel1 UTSW 12 84934382 missense probably damaging 0.99
X0066:Arel1 UTSW 12 84943329 splice site probably null
Posted On2013-04-17