Incidental Mutation 'R5689:Evi5l'
ID 443573
Institutional Source Beutler Lab
Gene Symbol Evi5l
Ensembl Gene ENSMUSG00000011832
Gene Name ecotropic viral integration site 5 like
Synonyms B130050I23Rik, 2310039H16Rik, 1700084G18Rik, 3110007G05Rik
MMRRC Submission 043322-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5689 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 4216523-4258089 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 4255460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 542 (Q542*)
Ref Sequence ENSEMBL: ENSMUSP00000135700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168386] [ENSMUST00000176072] [ENSMUST00000176149] [ENSMUST00000176764] [ENSMUST00000176825]
AlphaFold H3BKQ3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148353
Predicted Effect probably benign
Transcript: ENSMUST00000168386
SMART Domains Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
internal_repeat_1 63 82 5.9e-10 PROSPERO
internal_repeat_1 87 106 5.9e-10 PROSPERO
low complexity region 109 123 N/A INTRINSIC
low complexity region 358 388 N/A INTRINSIC
low complexity region 390 425 N/A INTRINSIC
low complexity region 466 497 N/A INTRINSIC
low complexity region 543 567 N/A INTRINSIC
low complexity region 571 612 N/A INTRINSIC
low complexity region 647 726 N/A INTRINSIC
low complexity region 733 751 N/A INTRINSIC
low complexity region 755 780 N/A INTRINSIC
low complexity region 783 867 N/A INTRINSIC
low complexity region 1020 1045 N/A INTRINSIC
Pfam:DUF4596 1053 1098 4.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175650
Predicted Effect probably null
Transcript: ENSMUST00000176072
AA Change: Q495*
SMART Domains Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: Q495*

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
AA Change: Q553*
SMART Domains Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: Q553*

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: ENSMUST00000176186
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
AA Change: Q542*
SMART Domains Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: Q542*

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: ENSMUST00000177455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177309
Predicted Effect probably benign
Transcript: ENSMUST00000176645
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (63/66)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 89,051,412 (GRCm39) C844F probably benign Het
Afdn T C 17: 14,075,621 (GRCm39) V945A probably damaging Het
Aimp2 T C 5: 143,843,389 (GRCm39) D67G possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp11b G T 3: 35,888,501 (GRCm39) V924F possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Cfb T A 17: 35,080,770 (GRCm39) T76S probably benign Het
Cmpk2 A T 12: 26,519,766 (GRCm39) H139L probably benign Het
Cypt4 T C 9: 24,536,542 (GRCm39) S11P possibly damaging Het
Dbx1 A G 7: 49,282,519 (GRCm39) F229L probably damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dnah7a A G 1: 53,444,857 (GRCm39) V3949A possibly damaging Het
Dnajc25 A G 4: 59,017,716 (GRCm39) E6G probably damaging Het
Dync2h1 C A 9: 7,169,689 (GRCm39) V263F probably damaging Het
Eno4 T A 19: 58,959,088 (GRCm39) D403E probably benign Het
Fam135a A G 1: 24,068,134 (GRCm39) S12P probably benign Het
Flnc G A 6: 29,441,591 (GRCm39) A458T probably benign Het
Fnip1 T C 11: 54,393,115 (GRCm39) V517A probably damaging Het
Galc G T 12: 98,179,245 (GRCm39) H361N possibly damaging Het
Gask1a T C 9: 121,794,754 (GRCm39) F303L probably damaging Het
Gcnt1 T A 19: 17,306,768 (GRCm39) D319V probably damaging Het
Gm26996 T C 6: 130,555,258 (GRCm39) noncoding transcript Het
Gm5321 A T 7: 6,022,268 (GRCm39) noncoding transcript Het
Grin3b T C 10: 79,810,465 (GRCm39) L657P probably damaging Het
Gstm5 T C 3: 107,803,981 (GRCm39) F54S probably damaging Het
Ilk C A 7: 105,390,857 (GRCm39) L267I probably benign Het
Lifr A G 15: 7,214,285 (GRCm39) Y713C probably damaging Het
Lnx2 A T 5: 146,965,961 (GRCm39) V386E probably damaging Het
Lrch1 T C 14: 75,023,764 (GRCm39) E587G probably damaging Het
Or10g3 C T 14: 52,610,214 (GRCm39) V99M possibly damaging Het
Osgin1 A G 8: 120,171,728 (GRCm39) *173W probably null Het
Pcdhga7 C A 18: 37,849,736 (GRCm39) P581H probably damaging Het
Pde4dip A T 3: 97,599,683 (GRCm39) L2384* probably null Het
Phf12 T A 11: 77,914,551 (GRCm39) N115K probably damaging Het
Pmel A G 10: 128,552,170 (GRCm39) T335A probably damaging Het
Polr3e C A 7: 120,539,912 (GRCm39) T579K possibly damaging Het
Ptprc A G 1: 138,045,515 (GRCm39) V164A probably benign Het
Rapsn T C 2: 90,866,269 (GRCm39) F43S probably damaging Het
Rarb T A 14: 16,434,177 (GRCm38) I334F probably damaging Het
Rev3l T C 10: 39,670,954 (GRCm39) Y167H probably damaging Het
Rnf146 T C 10: 29,223,800 (GRCm39) T29A probably benign Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc5a10 C T 11: 61,598,710 (GRCm39) M223I probably benign Het
Slc7a11 C G 3: 50,326,780 (GRCm39) V494L probably benign Het
Slitrk6 C T 14: 110,989,558 (GRCm39) E50K probably benign Het
Smg8 A G 11: 86,975,949 (GRCm39) F544S probably damaging Het
Tnpo3 T C 6: 29,571,063 (GRCm39) M444V possibly damaging Het
Trav7d-4 G A 14: 53,007,651 (GRCm39) R48H probably damaging Het
Trim50 A T 5: 135,382,516 (GRCm39) T123S probably damaging Het
Trpc4ap C G 2: 155,512,955 (GRCm39) probably null Het
Ttn T A 2: 76,618,620 (GRCm39) R14475S probably damaging Het
Uts2 A T 4: 151,083,565 (GRCm39) T59S possibly damaging Het
Vmn1r52 T C 6: 90,156,232 (GRCm39) S179P possibly damaging Het
Vmn2r116 A G 17: 23,616,693 (GRCm39) H537R probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Zfhx2 T C 14: 55,311,360 (GRCm39) T445A possibly damaging Het
Zfp638 T C 6: 83,906,054 (GRCm39) V73A probably damaging Het
Other mutations in Evi5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Evi5l APN 8 4,243,219 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTTCGCTCAGTTGCCAAAGC -3'
(R):5'- TGAGCTCGTCCTGTAACTCG -3'

Sequencing Primer
(F):5'- TGGAGATTCAGTGCTTTCCC -3'
(R):5'- TGTAACTCGCCCAGGACC -3'
Posted On 2016-11-09