Incidental Mutation 'R5950:Evl'
ID 472401
Institutional Source Beutler Lab
Gene Symbol Evl
Ensembl Gene ENSMUSG00000021262
Gene Name Ena-vasodilator stimulated phosphoprotein
Synonyms b2b2600Clo
MMRRC Submission 044140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5950 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 108520979-108654775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108641812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 198 (T198I)
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: T211I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: T211I

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: T211I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: T211I

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: T217I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: T217I

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: T198I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: T198I

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 benign
Transcript: ENSMUST00000222255
Predicted Effect probably benign
Transcript: ENSMUST00000223109
AA Change: T198I

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 93% (75/81)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,981,879 (GRCm39) G1065R probably damaging Het
Acox2 A T 14: 8,255,793 (GRCm38) Y113N probably benign Het
Arid4b T A 13: 14,365,849 (GRCm39) probably benign Het
Atf6 C T 1: 170,662,448 (GRCm39) G271R probably damaging Het
Bnip5 T A 17: 29,124,729 (GRCm39) Q256L possibly damaging Het
Cct8l1 C A 5: 25,722,741 (GRCm39) F485L probably benign Het
Cdk5r2 A G 1: 74,894,561 (GRCm39) E102G probably damaging Het
Celsr1 A T 15: 85,916,701 (GRCm39) V424E probably damaging Het
Ces1h T C 8: 94,089,587 (GRCm39) T271A probably benign Het
Cfap44 T C 16: 44,300,210 (GRCm39) I1738T probably damaging Het
Cntnap3 G A 13: 64,935,583 (GRCm39) L427F probably damaging Het
Crybg3 T C 16: 59,313,934 (GRCm39) probably benign Het
Dis3l2 A G 1: 86,948,830 (GRCm39) D589G probably damaging Het
Dlg1 A G 16: 31,484,401 (GRCm39) R10G probably damaging Het
Dnajc1 A C 2: 18,311,752 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,492,430 (GRCm39) T723S probably benign Het
Dsg3 A T 18: 20,671,586 (GRCm39) N764Y probably damaging Het
Dst G T 1: 34,301,141 (GRCm39) R3654L probably damaging Het
Dynlt5 T G 4: 102,861,447 (GRCm39) L147R probably damaging Het
Hectd2 A G 19: 36,574,639 (GRCm39) probably benign Het
Hsp90b1 A G 10: 86,537,609 (GRCm39) V232A possibly damaging Het
Igsf5 T C 16: 96,174,072 (GRCm39) V34A probably benign Het
Ikzf2 A T 1: 69,722,403 (GRCm39) N41K probably damaging Het
Kif6 G T 17: 50,022,116 (GRCm39) A339S probably damaging Het
Klhl1 T A 14: 96,477,790 (GRCm39) D426V probably damaging Het
Knop1 A C 7: 118,452,557 (GRCm39) V54G probably damaging Het
Lama4 T A 10: 38,906,444 (GRCm39) V270D probably benign Het
Lnx2 A G 5: 146,961,160 (GRCm39) probably null Het
Lrp5 A T 19: 3,652,333 (GRCm39) V1179E probably benign Het
Lrpprc T G 17: 85,047,598 (GRCm39) D878A possibly damaging Het
Lrrc14 A T 15: 76,599,510 (GRCm39) probably benign Het
Ltbp1 A T 17: 75,580,865 (GRCm39) D660V probably damaging Het
Macf1 C G 4: 123,333,229 (GRCm39) probably null Het
Map3k21 C A 8: 126,668,499 (GRCm39) T695K possibly damaging Het
Mcm3ap T A 10: 76,324,253 (GRCm39) D895E possibly damaging Het
Mink1 T A 11: 70,500,412 (GRCm39) D779E possibly damaging Het
Mkrn3 T C 7: 62,069,467 (GRCm39) E108G probably damaging Het
Mtcl3 T C 10: 29,019,644 (GRCm39) probably benign Het
Nars1 A G 18: 64,643,556 (GRCm39) V141A possibly damaging Het
Or8g34 T C 9: 39,373,633 (GRCm39) V299A probably benign Het
Pard3b T A 1: 62,255,690 (GRCm39) Y572N probably benign Het
Pcnx3 A C 19: 5,717,186 (GRCm39) M1599R possibly damaging Het
Pitx2 A G 3: 129,012,169 (GRCm39) S180G probably damaging Het
Pkd2l1 A C 19: 44,140,529 (GRCm39) V608G probably benign Het
Pkhd1l1 A G 15: 44,396,361 (GRCm39) D1961G probably benign Het
Pxylp1 T C 9: 96,721,179 (GRCm39) T109A probably damaging Het
Rai1 T A 11: 60,078,419 (GRCm39) C828S probably damaging Het
Ralgapa1 T A 12: 55,785,050 (GRCm39) T737S possibly damaging Het
Scn11a A G 9: 119,640,190 (GRCm39) V235A probably damaging Het
Sfxn1 A T 13: 54,245,306 (GRCm39) T134S probably benign Het
Skint1 A G 4: 111,876,532 (GRCm39) Y151C probably benign Het
Slc11a1 G T 1: 74,416,335 (GRCm39) W54L probably benign Het
Slc49a3 A T 5: 108,593,351 (GRCm39) H162Q probably damaging Het
Synpo2l T A 14: 20,716,003 (GRCm39) Q191L probably benign Het
Tank A G 2: 61,483,913 (GRCm39) probably benign Het
Terb1 A T 8: 105,215,117 (GRCm39) probably null Het
Trdc T C 14: 54,381,768 (GRCm39) probably benign Het
Tsen34 A G 7: 3,697,787 (GRCm39) I63V probably null Het
Ust T C 10: 8,123,865 (GRCm39) H257R probably benign Het
Vmn2r6 T C 3: 64,472,652 (GRCm39) Q23R probably benign Het
Wdr93 A T 7: 79,423,179 (GRCm39) H481L probably damaging Het
Xirp2 A G 2: 67,341,664 (GRCm39) T1302A possibly damaging Het
Zc3h6 C A 2: 128,839,710 (GRCm39) Y174* probably null Het
Zcchc7 T G 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zfp472 T A 17: 33,196,481 (GRCm39) H185Q possibly damaging Het
Zfp523 C A 17: 28,421,532 (GRCm39) P66H probably benign Het
Zfp712 A T 13: 67,192,881 (GRCm39) L57Q probably damaging Het
Zik1 G A 7: 10,224,498 (GRCm39) Q200* probably null 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
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
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'- AACAGTAGCTGGACACCCCTAG -3'
(R):5'- AGGGGAAGAGAGTTTTGCTC -3'

Sequencing Primer
(F):5'- CCCTAGGTGTTGGAGACTGACTC -3'
(R):5'- AAGAGAGTTTTGCTCAGTGTCTCAC -3'
Posted On 2017-03-31