Incidental Mutation 'R7490:Arel1'
ID 580698
Institutional Source Beutler Lab
Gene Symbol Arel1
Ensembl Gene ENSMUSG00000042350
Gene Name apoptosis resistant E3 ubiquitin protein ligase 1
Synonyms 1110018G07Rik
MMRRC Submission 045564-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R7490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 84964922-85017674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84988685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 21 (F21L)
Ref Sequence ENSEMBL: ENSMUSP00000048780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043169] [ENSMUST00000163231] [ENSMUST00000163372] [ENSMUST00000165093] [ENSMUST00000165886] [ENSMUST00000167448] [ENSMUST00000169161]
AlphaFold Q8CHG5
Predicted Effect probably damaging
Transcript: ENSMUST00000043169
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048780
Gene: ENSMUSG00000042350
AA Change: F21L

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: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129213
Gene: ENSMUSG00000042350
AA Change: F21L

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 damaging
Transcript: ENSMUST00000163372
AA Change: F21L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130259
Gene: ENSMUSG00000042350
AA Change: F21L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Blast:IG_FLMN 56 81 7e-13 BLAST
SCOP:d1qfha1 56 81 4e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165093
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129147
Gene: ENSMUSG00000042350
AA Change: F21L

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165886
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126508
Gene: ENSMUSG00000042350
AA Change: F21L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167448
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127426
Gene: ENSMUSG00000042350
AA Change: F21L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169161
AA Change: F21L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126523
Gene: ENSMUSG00000042350
AA Change: F21L

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
IG_FLMN 56 160 4.53e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,202,389 (GRCm39) D132G possibly damaging Het
Abca5 T C 11: 110,168,437 (GRCm39) E1424G possibly damaging Het
Adamts4 C T 1: 171,084,169 (GRCm39) Q549* probably null Het
Adcy4 A G 14: 56,007,890 (GRCm39) I893T possibly damaging Het
Ago1 A T 4: 126,333,298 (GRCm39) *858R probably null Het
Ank2 T A 3: 126,752,538 (GRCm39) I393L probably damaging Het
Ankrd44 T C 1: 54,687,459 (GRCm39) T987A probably benign Het
Ap2a1 G T 7: 44,552,213 (GRCm39) N790K probably benign Het
Aqr A G 2: 113,989,349 (GRCm39) probably null Het
Atp1a3 T C 7: 24,686,895 (GRCm39) D743G probably damaging Het
Atp9a A T 2: 168,517,272 (GRCm39) F354I probably benign Het
Bag6 A G 17: 35,359,818 (GRCm39) H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,795,498 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,795,478 (GRCm39) probably benign Het
Bckdk T A 7: 127,504,145 (GRCm39) S15T unknown Het
C4b G T 17: 34,950,054 (GRCm39) Y1405* probably null Het
Camk4 G A 18: 33,072,598 (GRCm39) probably null Het
Car11 T A 7: 45,349,742 (GRCm39) W16R probably benign Het
Ccdc80 A C 16: 44,916,763 (GRCm39) E506D probably damaging Het
Chmp6 C T 11: 119,806,269 (GRCm39) Q32* probably null Het
Colq G A 14: 31,267,043 (GRCm39) P166S possibly damaging Het
Ctxn3 T C 18: 57,610,357 (GRCm39) M58T probably damaging Het
Cxcl3 A T 5: 90,934,516 (GRCm39) I93L unknown Het
Dnaaf2 T C 12: 69,244,380 (GRCm39) Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,204 (GRCm39) G792D probably damaging Het
Dsg4 T A 18: 20,584,993 (GRCm39) probably null Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Fbxl13 T A 5: 21,728,058 (GRCm39) R550* probably null Het
Gm4302 A T 10: 100,177,445 (GRCm39) Q243L unknown Het
Gm7168 A T 17: 14,169,275 (GRCm39) Y214F probably benign Het
Gtf3c1 C T 7: 125,246,663 (GRCm39) D1549N probably damaging Het
Gtf3c5 A T 2: 28,461,153 (GRCm39) D320E probably damaging Het
Hivep1 T A 13: 42,311,126 (GRCm39) V1122D probably damaging Het
Ibtk T C 9: 85,600,987 (GRCm39) probably null Het
Irs1 T A 1: 82,264,985 (GRCm39) Q1077L probably damaging Het
Ivd A T 2: 118,707,373 (GRCm39) M296L possibly damaging Het
Katnal1 T C 5: 148,828,492 (GRCm39) D318G probably null Het
L3mbtl3 C T 10: 26,215,129 (GRCm39) V194I unknown Het
Malt1 C A 18: 65,581,282 (GRCm39) Q237K probably benign Het
Marchf11 C T 15: 26,311,187 (GRCm39) A221V possibly damaging Het
Nfe2l3 A G 6: 51,434,524 (GRCm39) I361M possibly damaging Het
Nrg1 G A 8: 32,308,682 (GRCm39) R493C probably damaging Het
Oga G A 19: 45,755,886 (GRCm39) R586* probably null Het
Or10g9b T A 9: 39,917,720 (GRCm39) H175L probably damaging Het
Or2f1 T C 6: 42,721,739 (GRCm39) I256T probably damaging Het
Or4c107 A C 2: 88,789,392 (GRCm39) Y194S probably benign Het
Or51g2 G A 7: 102,623,017 (GRCm39) P61S probably damaging Het
Or5ar1 A T 2: 85,671,307 (GRCm39) V276E probably damaging Het
Or7g16 A T 9: 18,727,229 (GRCm39) Y120* probably null Het
Orai3 C T 7: 127,372,799 (GRCm39) A100V possibly damaging Het
Oxsm T A 14: 16,241,066 (GRCm38) M328L probably benign Het
Pan2 T C 10: 128,144,309 (GRCm39) V186A probably benign Het
Pkd1l1 T A 11: 8,866,265 (GRCm39) D980V Het
Ppp1r16b T C 2: 158,603,388 (GRCm39) Y438H probably damaging Het
Ppp4c A T 7: 126,386,504 (GRCm39) H164Q probably damaging Het
Prl8a2 C A 13: 27,536,753 (GRCm39) T125K possibly damaging Het
Rasa2 T C 9: 96,448,175 (GRCm39) N494S possibly damaging Het
Rpl18a T C 8: 71,348,150 (GRCm39) D147G probably benign Het
Scg3 T C 9: 75,576,559 (GRCm39) D272G possibly damaging Het
Serpinb6c T A 13: 34,077,818 (GRCm39) D184V probably benign Het
Simc1 T G 13: 54,672,162 (GRCm39) L170R possibly damaging Het
Slx4 T C 16: 3,797,995 (GRCm39) E1463G possibly damaging Het
Stk31 T A 6: 49,416,166 (GRCm39) probably null Het
Tas1r3 A G 4: 155,946,480 (GRCm39) I375T probably damaging Het
Tbc1d24 T C 17: 24,401,494 (GRCm39) D405G probably damaging Het
Tcerg1l G A 7: 137,861,557 (GRCm39) P391S probably damaging Het
Tiam1 T C 16: 89,695,083 (GRCm39) S125G probably benign Het
Trim16 C A 11: 62,724,949 (GRCm39) H246N probably damaging Het
Tti1 T A 2: 157,837,392 (GRCm39) N896I probably damaging Het
Ubash3a A G 17: 31,451,286 (GRCm39) N395S probably damaging Het
Uggt1 T C 1: 36,203,589 (GRCm39) I1014V probably benign Het
Vmn1r30 T A 6: 58,412,214 (GRCm39) Q206L possibly damaging Het
Washc5 T A 15: 59,209,053 (GRCm39) N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,840,078 (GRCm39) probably null Het
Zcchc14 A T 8: 122,331,756 (GRCm39) S536T unknown 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
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
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
Posted On 2019-10-17