Incidental Mutation 'IGL02867:Arel1'
ID362371
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 #IGL02867
Quality Score
Status
Chromosome12
Chromosomal Location84918148-84970900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84934323 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 303 (N303K)
Ref Sequence ENSEMBL: ENSMUSP00000129213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372]
Predicted Effect probably benign
Transcript: ENSMUST00000043169
AA Change: N303K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: N303K

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 benign
Transcript: ENSMUST00000163231
AA Change: N303K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: N303K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik C T 10: 82,283,820 S482N probably damaging Het
Abcf2 T A 5: 24,571,151 Y310F probably benign Het
Adarb1 C T 10: 77,313,541 V371I probably benign Het
Antxr2 G T 5: 97,977,650 H249Q probably benign Het
Bloc1s6 T C 2: 122,742,684 Y60H probably damaging Het
Ccdc125 A T 13: 100,684,282 probably benign Het
Cxcl16 A T 11: 70,459,066 Y45N possibly damaging Het
Dnajb3 T A 1: 88,205,527 Q51L probably benign Het
Ear10 A G 14: 43,923,269 F34L probably damaging Het
Fgf11 A G 11: 69,799,672 S100P possibly damaging Het
Fpgs G A 2: 32,685,879 probably benign Het
Fyb A T 15: 6,580,046 Q33H probably damaging Het
Ints3 G T 3: 90,392,836 H925N probably damaging Het
Krt16 T C 11: 100,247,576 K249E probably damaging Het
Lrp2 A T 2: 69,552,450 S30R possibly damaging Het
Naa35 T C 13: 59,608,854 probably benign Het
Olfr381 A G 11: 73,485,991 Y278H probably damaging Het
Olfr743 A G 14: 50,533,513 I34V probably benign Het
Olfr971 A G 9: 39,840,237 M268V probably benign Het
Osbpl6 A G 2: 76,595,870 probably benign Het
Pramel6 A T 2: 87,510,392 Q356L probably damaging Het
Prima1 A G 12: 103,197,316 V132A probably benign Het
Psme1 A G 14: 55,579,926 probably benign Het
Rdh11 A G 12: 79,189,054 V40A possibly damaging Het
Rin1 C T 19: 5,053,170 R485C probably damaging Het
Rnf40 C A 7: 127,591,429 S255* probably null Het
Spata24 C A 18: 35,656,752 R194L probably benign Het
Tas1r1 A T 4: 152,028,278 S773T probably damaging Het
Trdv5 G T 14: 54,148,972 probably benign Het
Trpc3 A C 3: 36,640,701 D701E probably benign Het
Vim A G 2: 13,580,680 R424G probably damaging Het
Vmn1r216 A C 13: 23,099,479 T111P probably damaging Het
Zbtb26 A C 2: 37,436,249 N247K probably benign Het
Zfp629 T G 7: 127,610,031 probably benign Het
Other mutations in Arel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Arel1 APN 12 84934162 missense probably damaging 0.98
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
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 On2015-12-18