Incidental Mutation 'IGL01532:Arel1'
ID89794
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: 0.602) question?
Stock #IGL01532
Quality Score
Status
Chromosome12
Chromosomal Location84918148-84970900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84934162 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 357 (V357A)
Ref Sequence ENSEMBL: ENSMUSP00000129213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372]
Predicted Effect probably benign
Transcript: ENSMUST00000043169
AA Change: V357A

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: V357A

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 possibly damaging
Transcript: ENSMUST00000163231
AA Change: V357A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: V357A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Ccdc70 T G 8: 21,973,283 L30V probably damaging Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Olfr548-ps1 T C 7: 102,542,656 L240P probably damaging Het
Rnf31 C A 14: 55,602,623 Q968K probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sptssb A G 3: 69,820,869 probably benign Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Vti1b A C 12: 79,165,138 L1W probably null Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Arel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Arel1 APN 12 84934162 missense probably damaging 0.98
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 On2013-12-03