Incidental Mutation 'IGL01812:Evi5l'
ID 154300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evi5l
Ensembl Gene ENSMUSG00000011832
Gene Name ecotropic viral integration site 5 like
Synonyms B130050I23Rik, 2310039H16Rik, 1700084G18Rik, 3110007G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01812
Quality Score
Status
Chromosome 8
Chromosomal Location 4216523-4258089 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 4243219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000176072] [ENSMUST00000176149] [ENSMUST00000176764] [ENSMUST00000176825] [ENSMUST00000177053]
AlphaFold H3BKQ3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148353
Predicted Effect probably null
Transcript: ENSMUST00000176072
SMART Domains Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 415 451 4.14e-7 PROSPERO
coiled coil region 455 478 N/A INTRINSIC
internal_repeat_1 513 549 4.14e-7 PROSPERO
low complexity region 697 708 N/A INTRINSIC
low complexity region 732 743 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000176149
SMART Domains Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 463 509 1.56e-7 PROSPERO
coiled coil region 513 536 N/A INTRINSIC
internal_repeat_1 563 607 1.56e-7 PROSPERO
low complexity region 755 766 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176462
Predicted Effect probably benign
Transcript: ENSMUST00000176764
SMART Domains Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832

DomainStartEndE-ValueType
Blast:TBC 27 100 4e-8 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
coiled coil region 363 452 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000176825
SMART Domains Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 452 498 1.86e-7 PROSPERO
coiled coil region 502 525 N/A INTRINSIC
internal_repeat_1 552 596 1.86e-7 PROSPERO
low complexity region 744 755 N/A INTRINSIC
low complexity region 779 790 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177309
Predicted Effect probably null
Transcript: ENSMUST00000177053
SMART Domains Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832

DomainStartEndE-ValueType
Blast:TBC 27 100 3e-8 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177130
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 80,749,950 (GRCm39) Y1456C probably damaging Het
Apobr A G 7: 126,187,094 (GRCm39) D840G probably damaging Het
Arb2a T A 13: 77,909,966 (GRCm39) L27* probably null Het
Cd300lf T C 11: 115,011,114 (GRCm39) R175G probably damaging Het
Chil5 A G 3: 105,924,468 (GRCm39) S426P possibly damaging Het
Cngb3 T G 4: 19,461,728 (GRCm39) I536M possibly damaging Het
Cracdl T A 1: 37,664,446 (GRCm39) D484V probably benign Het
Cyp4f15 G A 17: 32,905,131 (GRCm39) R38H probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dis3l T A 9: 64,217,519 (GRCm39) E822V probably benign Het
Erich3 T C 3: 154,419,608 (GRCm39) V234A possibly damaging Het
Exoc4 T C 6: 33,734,894 (GRCm39) probably benign Het
Ganc A G 2: 120,242,007 (GRCm39) I62V probably benign Het
Itpkb T C 1: 180,247,851 (GRCm39) F823S probably damaging Het
Izumo2 A G 7: 44,358,519 (GRCm39) N14S possibly damaging Het
Matcap1 C T 8: 106,011,289 (GRCm39) probably benign Het
Nbas T C 12: 13,503,504 (GRCm39) C1545R probably damaging Het
Or4c108 A T 2: 88,803,868 (GRCm39) Y122* probably null Het
Pds5b A T 5: 150,704,154 (GRCm39) R852S probably damaging Het
Polh G A 17: 46,483,837 (GRCm39) A476V probably benign Het
Prune2 T A 19: 16,981,141 (GRCm39) D99E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tor1aip2 A G 1: 155,935,285 (GRCm39) S7G probably benign Het
Vps13a A G 19: 16,692,424 (GRCm39) V830A probably benign Het
Vps39 G A 2: 120,151,271 (GRCm39) probably benign Het
Zdhhc17 T A 10: 110,784,078 (GRCm39) H466L possibly damaging Het
Other mutations in Evi5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Evi5l APN 8 4,241,293 (GRCm39) missense probably damaging 0.99
IGL02322:Evi5l APN 8 4,237,236 (GRCm39) splice site probably benign
IGL02528:Evi5l APN 8 4,243,172 (GRCm39) missense probably benign 0.25
IGL02822:Evi5l APN 8 4,237,248 (GRCm39) missense probably damaging 1.00
R0280:Evi5l UTSW 8 4,243,133 (GRCm39) missense probably damaging 1.00
R1764:Evi5l UTSW 8 4,253,560 (GRCm39) missense probably damaging 0.98
R2032:Evi5l UTSW 8 4,260,622 (GRCm39) missense probably damaging 1.00
R2158:Evi5l UTSW 8 4,243,195 (GRCm39) missense probably damaging 0.99
R2175:Evi5l UTSW 8 4,237,269 (GRCm39) missense probably damaging 1.00
R2357:Evi5l UTSW 8 4,243,113 (GRCm39) splice site probably benign
R3055:Evi5l UTSW 8 4,241,603 (GRCm39) nonsense probably null
R3724:Evi5l UTSW 8 4,228,080 (GRCm39) intron probably benign
R3956:Evi5l UTSW 8 4,241,358 (GRCm39) missense possibly damaging 0.72
R4342:Evi5l UTSW 8 4,233,492 (GRCm39) utr 5 prime probably benign
R4621:Evi5l UTSW 8 4,252,909 (GRCm39) intron probably benign
R4622:Evi5l UTSW 8 4,252,909 (GRCm39) intron probably benign
R4959:Evi5l UTSW 8 4,255,406 (GRCm39) missense probably benign 0.00
R4973:Evi5l UTSW 8 4,255,406 (GRCm39) missense probably benign 0.00
R5052:Evi5l UTSW 8 4,256,019 (GRCm39) intron probably benign
R5097:Evi5l UTSW 8 4,243,317 (GRCm39) missense probably damaging 0.97
R5344:Evi5l UTSW 8 4,235,990 (GRCm39) missense possibly damaging 0.78
R5357:Evi5l UTSW 8 4,253,623 (GRCm39) missense possibly damaging 0.63
R5376:Evi5l UTSW 8 4,260,770 (GRCm39) missense probably damaging 0.99
R5382:Evi5l UTSW 8 4,228,653 (GRCm39) intron probably benign
R5500:Evi5l UTSW 8 4,241,658 (GRCm39) missense probably damaging 0.96
R5554:Evi5l UTSW 8 4,256,491 (GRCm39) splice site probably benign
R5689:Evi5l UTSW 8 4,255,460 (GRCm39) nonsense probably null
R5788:Evi5l UTSW 8 4,256,800 (GRCm39) utr 3 prime probably benign
R6321:Evi5l UTSW 8 4,253,080 (GRCm39) missense probably benign
R6520:Evi5l UTSW 8 4,255,906 (GRCm39) missense possibly damaging 0.76
R6620:Evi5l UTSW 8 4,256,674 (GRCm39) missense possibly damaging 0.84
R6707:Evi5l UTSW 8 4,256,322 (GRCm39) missense probably benign
R7232:Evi5l UTSW 8 4,255,906 (GRCm39) missense possibly damaging 0.71
R7692:Evi5l UTSW 8 4,250,886 (GRCm39) missense probably damaging 1.00
R7985:Evi5l UTSW 8 4,253,536 (GRCm39) missense probably benign 0.27
R8162:Evi5l UTSW 8 4,241,300 (GRCm39) missense probably damaging 1.00
R8474:Evi5l UTSW 8 4,260,784 (GRCm39) missense possibly damaging 0.94
R8512:Evi5l UTSW 8 4,243,121 (GRCm39) missense probably benign 0.01
R8758:Evi5l UTSW 8 4,255,860 (GRCm39) missense probably benign 0.13
R8970:Evi5l UTSW 8 4,236,154 (GRCm39) splice site probably benign
R9138:Evi5l UTSW 8 4,233,582 (GRCm39) missense probably benign 0.03
X0062:Evi5l UTSW 8 4,241,303 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04