Incidental Mutation 'IGL03231:Arel1'
ID 413905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arel1
Ensembl Gene ENSMUSG00000042350
Gene Name apoptosis resistant E3 ubiquitin protein ligase 1
Synonyms 1110018G07Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # IGL03231
Quality Score
Status
Chromosome 12
Chromosomal Location 84964922-85017674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84981084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 308 (T308S)
Ref Sequence ENSEMBL: ENSMUSP00000129213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372]
AlphaFold Q8CHG5
Predicted Effect probably benign
Transcript: ENSMUST00000043169
AA Change: T308S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: T308S

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: T308S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: T308S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Capn7 G A 14: 31,077,247 (GRCm39) G322R probably damaging Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Cdh22 C T 2: 164,958,126 (GRCm39) V614I probably benign Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gm28043 A G 17: 29,854,916 (GRCm39) D457G probably damaging Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Pof1b C T X: 111,554,987 (GRCm39) S506N possibly damaging Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Xkrx A G X: 133,051,391 (GRCm39) L420P probably damaging Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H probably damaging 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
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
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
Posted On 2016-08-02