Incidental Mutation 'IGL02546:Evl'
ID 297814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evl
Ensembl Gene ENSMUSG00000021262
Gene Name Ena-vasodilator stimulated phosphoprotein
Synonyms b2b2600Clo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02546
Quality Score
Status
Chromosome 12
Chromosomal Location 108520979-108654775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108614678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 24 (N24S)
Ref Sequence ENSEMBL: ENSMUSP00000152364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000172409] [ENSMUST00000223109]
AlphaFold P70429
Predicted Effect probably benign
Transcript: ENSMUST00000021689
AA Change: N37S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: N37S

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 benign
Transcript: ENSMUST00000077735
AA Change: N37S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: N37S

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 benign
Transcript: ENSMUST00000109854
AA Change: N43S

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: N43S

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 benign
Transcript: ENSMUST00000172409
AA Change: N24S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: N24S

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 possibly damaging
Transcript: ENSMUST00000223109
AA Change: N24S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G T 12: 52,927,521 (GRCm39) V144L probably damaging Het
Carmil1 A T 13: 24,299,482 (GRCm39) N347K probably damaging Het
Cyp4a32 A G 4: 115,468,520 (GRCm39) Y334C probably damaging Het
Dmxl2 C A 9: 54,273,698 (GRCm39) probably benign Het
Eps8 C T 6: 137,456,064 (GRCm39) A806T probably benign Het
Fbxo15 T C 18: 84,980,847 (GRCm39) probably null Het
Gm14179 A T 11: 99,634,019 (GRCm39) Het
Hepacam2 A G 6: 3,483,568 (GRCm39) V147A possibly damaging Het
Jmjd1c C A 10: 67,061,115 (GRCm39) P1156Q possibly damaging Het
Mab21l3 A T 3: 101,730,624 (GRCm39) V205E probably damaging Het
Mad2l1 T C 6: 66,512,951 (GRCm39) I28T probably damaging Het
Minar2 T A 18: 59,205,347 (GRCm39) M45K probably damaging Het
Mroh9 T A 1: 162,908,145 (GRCm39) I2F probably benign Het
Msr1 A T 8: 40,068,788 (GRCm39) I302K probably benign Het
Msrb3 C T 10: 120,685,906 (GRCm39) V80I possibly damaging Het
Ncf4 A G 15: 78,145,219 (GRCm39) D269G probably damaging Het
Nsl1 T A 1: 190,803,398 (GRCm39) H156Q probably benign Het
Nutm1 T C 2: 112,078,669 (GRCm39) D1082G probably benign Het
Or6c216 T A 10: 129,678,416 (GRCm39) D165V probably damaging Het
Or7g20 T A 9: 18,946,650 (GRCm39) V77D possibly damaging Het
Orc4 T C 2: 48,807,296 (GRCm39) I212V probably null Het
Pde6c A G 19: 38,128,488 (GRCm39) I184V probably benign Het
Pfkfb3 A T 2: 11,493,589 (GRCm39) F129Y probably damaging Het
Ppp3cb T C 14: 20,551,622 (GRCm39) D493G probably benign Het
Psg29 A G 7: 16,942,707 (GRCm39) Y236C probably damaging Het
Pzp C T 6: 128,471,662 (GRCm39) probably benign Het
Semp2l2b A T 10: 21,942,826 (GRCm39) W385R probably damaging Het
Sgf29 T A 7: 126,271,025 (GRCm39) V180E probably damaging Het
Sh3bp4 A G 1: 89,071,266 (GRCm39) probably benign Het
Slc39a2 A T 14: 52,132,620 (GRCm39) T188S probably benign Het
Slc6a13 G T 6: 121,310,323 (GRCm39) M327I probably benign Het
Slitrk6 T A 14: 110,987,226 (GRCm39) H827L probably benign Het
Thumpd2 T G 17: 81,361,884 (GRCm39) K114T probably benign Het
Tnfrsf19 A T 14: 61,210,987 (GRCm39) C234S possibly damaging Het
Tns2 A G 15: 102,019,375 (GRCm39) D446G probably damaging Het
Tpm4 A G 8: 72,898,547 (GRCm39) E137G probably damaging Het
Ttn G A 2: 76,625,901 (GRCm39) R13307C probably damaging Het
Ubqln3 A G 7: 103,791,725 (GRCm39) S122P probably benign Het
Ubr5 T C 15: 38,008,991 (GRCm39) D1080G probably benign Het
Ulk4 A T 9: 120,981,373 (GRCm39) L886* probably null Het
Unc80 T C 1: 66,594,112 (GRCm39) S1164P possibly damaging Het
Uspl1 T C 5: 149,141,114 (GRCm39) V371A possibly damaging Het
Virma T C 4: 11,494,804 (GRCm39) V35A probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp787 A T 7: 6,135,297 (GRCm39) I318N probably damaging Het
Other mutations in Evl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5688:Evl UTSW 12 108,639,612 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16