Incidental Mutation 'R5688:Evl'
ID 443521
Institutional Source Beutler Lab
Gene Symbol Evl
Ensembl Gene ENSMUSG00000021262
Gene Name Ena-vasodilator stimulated phosphoprotein
Synonyms b2b2600Clo
MMRRC Submission 043321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5688 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 108520979-108654775 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 108639612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000021689] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000109854] [ENSMUST00000172409] [ENSMUST00000172409] [ENSMUST00000223109]
AlphaFold P70429
Predicted Effect probably null
Transcript: ENSMUST00000021689
SMART Domains Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 109 7.72e-53 SMART
low complexity region 172 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Pfam:VASP_tetra 375 411 2.6e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000021689
SMART Domains Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 109 7.72e-53 SMART
low complexity region 172 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Pfam:VASP_tetra 375 411 2.6e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000077735
SMART Domains Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 109 7.72e-53 SMART
low complexity region 172 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Pfam:VASP_tetra 353 392 2e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109854
SMART Domains Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 7 115 1.87e-51 SMART
low complexity region 178 210 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
Pfam:VASP_tetra 359 398 7.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109854
SMART Domains Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 7 115 1.87e-51 SMART
low complexity region 178 210 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
Pfam:VASP_tetra 359 398 7.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172409
SMART Domains Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 96 5.82e-39 SMART
low complexity region 159 191 N/A INTRINSIC
low complexity region 203 215 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
Pfam:VASP_tetra 361 400 1.6e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172409
SMART Domains Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 96 5.82e-39 SMART
low complexity region 159 191 N/A INTRINSIC
low complexity region 203 215 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
Pfam:VASP_tetra 361 400 1.6e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222048
Predicted Effect probably null
Transcript: ENSMUST00000223109
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent defects in gross morphology or histology. Mice homozygous for a different knock-out allele are viable and fertile but display defects in monocyte migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,315,920 (GRCm39) A222V probably benign Het
Ahnak A G 19: 8,979,883 (GRCm39) D389G probably benign Het
Aldh1l2 A T 10: 83,337,789 (GRCm39) S559T possibly damaging Het
Alms1 T A 6: 85,576,877 (GRCm39) N144K possibly damaging Het
Anp32b T A 4: 46,469,868 (GRCm39) probably null Het
Atf7 C T 15: 102,459,944 (GRCm39) R57H probably damaging Het
Atp10b A T 11: 43,092,000 (GRCm39) H345L probably benign Het
Cacna2d1 A T 5: 16,563,950 (GRCm39) I859F probably damaging Het
Calcr T A 6: 3,714,730 (GRCm39) probably null Het
Cd248 A G 19: 5,119,963 (GRCm39) T604A probably benign Het
Cemip C T 7: 83,610,849 (GRCm39) V702M probably damaging Het
Cep295 G T 9: 15,243,282 (GRCm39) Q469K probably damaging Het
Cntn5 A G 9: 9,748,427 (GRCm39) W485R probably damaging Het
Cpe T C 8: 65,062,189 (GRCm39) N289S possibly damaging Het
Cyp2j11 G A 4: 96,233,358 (GRCm39) R113C probably damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb7 T G 8: 19,545,167 (GRCm39) L15R probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ednrb T C 14: 104,060,831 (GRCm39) D198G probably damaging Het
Engase A C 11: 118,378,146 (GRCm39) E312A possibly damaging Het
Faf1 C A 4: 109,652,010 (GRCm39) Q234K probably damaging Het
Garre1 T A 7: 33,953,416 (GRCm39) T449S possibly damaging Het
Garre1 T G 7: 33,984,134 (GRCm39) D163A probably damaging Het
Gm5460 C A 14: 33,767,752 (GRCm39) N453K possibly damaging Het
Gm7356 T A 17: 14,220,869 (GRCm39) I387F possibly damaging Het
H1f2 A G 13: 23,923,148 (GRCm39) K106R probably damaging Het
Hagh T C 17: 25,069,568 (GRCm39) M1T probably null Het
Hars1 A T 18: 36,905,369 (GRCm39) V155E probably damaging Het
Lca5 C A 9: 83,280,619 (GRCm39) D394Y probably benign Het
Lmtk3 T C 7: 45,440,834 (GRCm39) L280P probably damaging Het
Lrit1 C T 14: 36,784,385 (GRCm39) A571V possibly damaging Het
Map4k2 C A 19: 6,396,836 (GRCm39) P584H probably damaging Het
Mgst1 T C 6: 138,118,798 (GRCm39) probably benign Het
Mtrex A T 13: 113,009,590 (GRCm39) C936* probably null Het
Neb C T 2: 52,086,339 (GRCm39) V5245I probably damaging Het
Oas3 T C 5: 120,896,867 (GRCm39) N918S probably benign Het
Or4c106 C T 2: 88,683,023 (GRCm39) T243I probably benign Het
Or5d16 T A 2: 87,773,552 (GRCm39) Q140L probably benign Het
Or8b8 A C 9: 37,809,359 (GRCm39) I220L possibly damaging Het
Ovch2 A G 7: 107,393,201 (GRCm39) L224P probably damaging Het
Patj A T 4: 98,409,047 (GRCm39) K34* probably null Het
Pcf11 T A 7: 92,308,016 (GRCm39) R717S possibly damaging Het
Plcb1 A T 2: 135,177,400 (GRCm39) E577D probably benign Het
Plxnb2 T C 15: 89,042,899 (GRCm39) K1497E probably damaging Het
Pyroxd1 C A 6: 142,299,266 (GRCm39) L141I probably damaging Het
Rhobtb3 G T 13: 76,020,537 (GRCm39) N588K probably benign Het
Rnasel G A 1: 153,629,452 (GRCm39) probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shank1 A T 7: 44,003,911 (GRCm39) I1868F possibly damaging Het
Slc28a3 A T 13: 58,706,463 (GRCm39) S593T probably damaging Het
Slc29a4 T C 5: 142,699,853 (GRCm39) I168T possibly damaging Het
Slc35f5 C T 1: 125,518,775 (GRCm39) P502L probably benign Het
Slco6d1 T C 1: 98,408,493 (GRCm39) I463T probably damaging Het
Slk A G 19: 47,608,451 (GRCm39) D468G probably benign Het
Spata31d1d G T 13: 59,874,322 (GRCm39) P1071Q probably damaging Het
Tert G A 13: 73,787,275 (GRCm39) V754I probably damaging Het
Thada T C 17: 84,759,155 (GRCm39) T235A probably benign Het
Ttn T C 2: 76,564,472 (GRCm39) D28555G probably damaging Het
Ttn T A 2: 76,710,328 (GRCm39) probably null Het
Ubqln4 T C 3: 88,472,575 (GRCm39) L464P probably damaging Het
Unc45b A T 11: 82,813,643 (GRCm39) N350I possibly damaging Het
Vmn2r65 T C 7: 84,589,900 (GRCm39) D672G probably benign Het
Zfp947 T A 17: 22,365,066 (GRCm39) I203L probably benign Het
Zfp964 T A 8: 70,116,766 (GRCm39) H454Q probably benign Het
Other mutations in Evl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Evl APN 12 108,614,678 (GRCm39) missense possibly damaging 0.47
IGL03391:Evl APN 12 108,642,358 (GRCm39) splice site probably null
Graphite UTSW 12 108,647,814 (GRCm39) critical splice donor site probably null
Husk UTSW 12 108,614,719 (GRCm39) missense probably damaging 1.00
Pencil UTSW 12 108,647,783 (GRCm39) nonsense probably null
Shaving UTSW 12 108,614,567 (GRCm39) splice site probably benign
R0366:Evl UTSW 12 108,652,307 (GRCm39) critical splice acceptor site probably null
R0603:Evl UTSW 12 108,614,681 (GRCm39) missense probably damaging 1.00
R1843:Evl UTSW 12 108,619,255 (GRCm39) missense probably damaging 1.00
R3431:Evl UTSW 12 108,614,567 (GRCm39) splice site probably benign
R3432:Evl UTSW 12 108,614,567 (GRCm39) splice site probably benign
R4915:Evl UTSW 12 108,652,365 (GRCm39) missense probably damaging 1.00
R5137:Evl UTSW 12 108,647,781 (GRCm39) missense probably benign 0.00
R5933:Evl UTSW 12 108,649,516 (GRCm39) missense possibly damaging 0.60
R5950:Evl UTSW 12 108,641,812 (GRCm39) missense probably benign 0.16
R6144:Evl UTSW 12 108,619,290 (GRCm39) missense probably damaging 1.00
R7235:Evl UTSW 12 108,614,719 (GRCm39) missense probably damaging 1.00
R7369:Evl UTSW 12 108,652,824 (GRCm39) missense unknown
R7639:Evl UTSW 12 108,652,362 (GRCm39) missense probably damaging 1.00
R7822:Evl UTSW 12 108,614,723 (GRCm39) missense probably damaging 1.00
R7967:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R7968:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R7970:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R7972:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R7973:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8017:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8019:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8020:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8046:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8105:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8122:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8123:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8124:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8125:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8126:Evl UTSW 12 108,647,783 (GRCm39) nonsense probably null
R8298:Evl UTSW 12 108,619,232 (GRCm39) missense probably benign 0.21
R9199:Evl UTSW 12 108,647,814 (GRCm39) critical splice donor site probably null
R9484:Evl UTSW 12 108,652,716 (GRCm39) missense probably damaging 1.00
R9650:Evl UTSW 12 108,641,698 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GATAAAGGTGTGCAGGTGCTTC -3'
(R):5'- CAGGGTTACTAGGCAAGCTTCAG -3'

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