Incidental Mutation 'R2161:Arel1'
ID 235171
Institutional Source Beutler Lab
Gene Symbol Arel1
Ensembl Gene ENSMUSG00000042350
Gene Name apoptosis resistant E3 ubiquitin protein ligase 1
Synonyms 1110018G07Rik
MMRRC Submission 040164-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R2161 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84964922-85017674 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 84968030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231]
AlphaFold Q8CHG5
Predicted Effect probably null
Transcript: ENSMUST00000043169
SMART Domains Protein: ENSMUSP00000048780
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163802
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,215,821 (GRCm39) M281V probably damaging Het
Ap1g1 A T 8: 110,570,986 (GRCm39) D423V probably damaging Het
Arhgap33 T C 7: 30,228,075 (GRCm39) probably null Het
Arhgef18 T G 8: 3,489,575 (GRCm39) Y302* probably null Het
Blm T C 7: 80,131,118 (GRCm39) probably null Het
Cep295 T G 9: 15,264,354 (GRCm39) E97D probably damaging Het
Cep295nl T C 11: 118,223,335 (GRCm39) D503G possibly damaging Het
Chchd2 G T 5: 129,912,989 (GRCm39) A29E probably damaging Het
Cic A G 7: 24,987,559 (GRCm39) probably null Het
Cmtr1 C T 17: 29,921,147 (GRCm39) L798F probably benign Het
Col11a2 C A 17: 34,283,771 (GRCm39) probably benign Het
Crispld2 A G 8: 120,742,078 (GRCm39) Y142C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dsp G A 13: 38,380,427 (GRCm39) D1792N probably damaging Het
Esp4 C A 17: 40,913,284 (GRCm39) N50K probably benign Het
Fbxo21 T C 5: 118,133,451 (GRCm39) S404P probably damaging Het
Ggnbp2 A G 11: 84,725,259 (GRCm39) F639L probably benign Het
Golph3l G A 3: 95,524,436 (GRCm39) G229D probably damaging Het
Hlx G T 1: 184,459,838 (GRCm39) S433R probably benign Het
Kdm2b T A 5: 123,018,762 (GRCm39) S233C probably damaging Het
Krt14 C T 11: 100,097,939 (GRCm39) G115R unknown Het
Ldb3 A G 14: 34,289,353 (GRCm39) probably null Het
Lrp1 T A 10: 127,391,607 (GRCm39) E2937D probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Naa20 T A 2: 145,753,715 (GRCm39) probably null Het
Ndufa8 A T 2: 35,926,527 (GRCm39) W170R probably damaging Het
Nlrp2 A T 7: 5,328,041 (GRCm39) L671I probably damaging Het
Or52e19b T A 7: 103,032,407 (GRCm39) R267S probably benign Het
Or5b108 T A 19: 13,168,673 (GRCm39) I214K probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpro A G 6: 137,426,885 (GRCm39) D280G probably benign Het
Reps1 A G 10: 17,972,031 (GRCm39) E361G probably damaging Het
Rgs6 A G 12: 83,138,578 (GRCm39) E304G probably damaging Het
Siglece T C 7: 43,308,793 (GRCm39) T187A probably benign Het
Slc5a10 C T 11: 61,610,760 (GRCm39) G5R probably null Het
Sohlh1 A G 2: 25,734,648 (GRCm39) I215T probably benign Het
Stag1 T A 9: 100,771,648 (GRCm39) V691D probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmed8 A G 12: 87,221,031 (GRCm39) V185A probably damaging Het
Trim71 A G 9: 114,341,840 (GRCm39) F814S probably damaging Het
Trmt9b T C 8: 36,972,804 (GRCm39) C85R probably damaging Het
Tsnax A T 8: 125,742,428 (GRCm39) K52N probably damaging Het
Tubgcp3 T C 8: 12,682,292 (GRCm39) T676A 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
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
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'- CAATTGATTGCTTGGCTCTGC -3'
(R):5'- TGGCATTGGTTTCATTCTGCATAC -3'

Sequencing Primer
(F):5'- AGTGGTAGTCAAGGCACCTGTC -3'
(R):5'- CATACCCATGTATGTAGGTAACTGAC -3'
Posted On 2014-10-01