Incidental Mutation 'R0335:Evi5'
ID 26180
Institutional Source Beutler Lab
Gene Symbol Evi5
Ensembl Gene ENSMUSG00000011831
Gene Name ecotropic viral integration site 5
Synonyms NB4S
MMRRC Submission 038544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0335 (G1)
Quality Score 168
Status Validated
Chromosome 5
Chromosomal Location 107892661-108022973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107960277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 431 (R431G)
Ref Sequence ENSEMBL: ENSMUSP00000108261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112642
AA Change: R431G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: R431G

DomainStartEndE-ValueType
low complexity region 51 80 N/A INTRINSIC
Blast:TBC 81 157 2e-16 BLAST
TBC 160 371 7.92e-91 SMART
internal_repeat_1 450 477 8.83e-6 PROSPERO
internal_repeat_1 494 521 8.83e-6 PROSPERO
coiled coil region 555 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124034
SMART Domains Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124590
Predicted Effect probably benign
Transcript: ENSMUST00000128723
AA Change: R387G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: R387G

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 2e-16 BLAST
TBC 116 327 7.92e-91 SMART
internal_repeat_1 466 493 2.66e-6 PROSPERO
internal_repeat_1 510 537 2.66e-6 PROSPERO
coiled coil region 571 660 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132482
Predicted Effect probably benign
Transcript: ENSMUST00000138111
SMART Domains Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198605
Meta Mutation Damage Score 0.7936 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,144 (GRCm39) D1134Y possibly damaging Het
Add3 A G 19: 53,225,259 (GRCm39) T460A probably benign Het
Amer3 A C 1: 34,618,381 (GRCm39) probably benign Het
Arhgap22 C T 14: 33,081,065 (GRCm39) probably benign Het
Arhgap32 T G 9: 32,171,056 (GRCm39) S1279A probably benign Het
Bcas1 G A 2: 170,260,601 (GRCm39) T26M probably damaging Het
Begain A T 12: 109,004,860 (GRCm39) F256I probably damaging Het
Bltp1 T C 3: 37,023,301 (GRCm39) V2210A probably damaging Het
Cabin1 A T 10: 75,492,883 (GRCm39) I1804N probably damaging Het
Cad G A 5: 31,231,329 (GRCm39) probably benign Het
Carmil1 G A 13: 24,257,966 (GRCm39) S762L probably damaging Het
Ccdc93 T A 1: 121,420,706 (GRCm39) L529Q probably damaging Het
Cdh12 T A 15: 21,578,635 (GRCm39) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,564,069 (GRCm39) probably benign Het
Cmip T C 8: 118,172,105 (GRCm39) I480T probably damaging Het
Cnot1 A T 8: 96,498,628 (GRCm39) I203K probably benign Het
Col18a1 G A 10: 76,895,197 (GRCm39) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm39) probably benign Het
Crybg3 A T 16: 59,364,503 (GRCm39) L2373Q probably damaging Het
D130043K22Rik A T 13: 25,071,860 (GRCm39) I935F probably damaging Het
Dapl1 T A 2: 59,326,938 (GRCm39) D61E possibly damaging Het
Def6 A G 17: 28,447,043 (GRCm39) D558G possibly damaging Het
Dnah6 T C 6: 73,046,382 (GRCm39) probably benign Het
Dvl2 G A 11: 69,891,861 (GRCm39) probably benign Het
Ecd A C 14: 20,370,802 (GRCm39) V639G probably benign Het
Epg5 C T 18: 78,029,687 (GRCm39) T1350M probably benign Het
Erbb4 C A 1: 68,298,418 (GRCm39) M657I probably benign Het
Fbxo11 G A 17: 88,323,041 (GRCm39) A115V possibly damaging Het
Fgfr2 T C 7: 129,797,979 (GRCm39) T192A probably benign Het
Gas7 C T 11: 67,552,878 (GRCm39) A146V possibly damaging Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm39) Q41H probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm7535 A G 17: 18,131,374 (GRCm39) probably benign Het
Gstm1 T A 3: 107,920,012 (GRCm39) N193I possibly damaging Het
Heatr5b G A 17: 79,135,375 (GRCm39) P252L probably benign Het
Hmgb1 A G 5: 148,987,441 (GRCm39) V36A probably benign Het
Hrh1 G T 6: 114,457,193 (GRCm39) W158L probably damaging Het
Ighv6-4 T C 12: 114,370,294 (GRCm39) M53V probably benign Het
Iqgap2 T A 13: 95,772,141 (GRCm39) D1346V probably damaging Het
Kcng3 A T 17: 83,895,166 (GRCm39) N433K possibly damaging Het
Kif1a T A 1: 92,980,288 (GRCm39) probably benign Het
Lctl C A 9: 64,026,169 (GRCm39) Q75K probably benign Het
Ldb3 T A 14: 34,300,608 (GRCm39) I89F possibly damaging Het
Lrrc49 A T 9: 60,584,378 (GRCm39) L156Q probably damaging Het
Mark2 G T 19: 7,259,193 (GRCm39) T83K probably benign Het
Ms4a15 A T 19: 10,957,574 (GRCm39) D170E probably damaging Het
Msantd2 A G 9: 37,434,056 (GRCm39) S99G possibly damaging Het
Nemf G T 12: 69,400,577 (GRCm39) T124N probably benign Het
Nlrp9c A T 7: 26,093,561 (GRCm39) F35I possibly damaging Het
Nwd2 A G 5: 63,962,116 (GRCm39) I567V probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or11l3 T C 11: 58,516,566 (GRCm39) Y102C probably damaging Het
Or13p8 A G 4: 118,584,367 (GRCm39) I308V probably null Het
Or5v1b A C 17: 37,841,533 (GRCm39) I222L probably benign Het
Or7g16 T A 9: 18,727,290 (GRCm39) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm39) E209G probably benign Het
Plch1 T C 3: 63,618,399 (GRCm39) Q712R probably damaging Het
Pnpla1 T A 17: 29,105,852 (GRCm39) V569E possibly damaging Het
Prkar2a A T 9: 108,596,457 (GRCm39) D134V probably damaging Het
Ptov1 T A 7: 44,514,046 (GRCm39) Q40L possibly damaging Het
Ptprq T C 10: 107,544,589 (GRCm39) I314V probably benign Het
Rabl2 T C 15: 89,468,169 (GRCm39) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm39) V19A possibly damaging Het
Scn2a T A 2: 65,512,435 (GRCm39) W191R probably damaging Het
Sec22b T A 3: 97,828,572 (GRCm39) F212I possibly damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Septin2 T C 1: 93,423,321 (GRCm39) S51P probably damaging Het
Serpinb1a T C 13: 33,032,639 (GRCm39) N90S probably damaging Het
Slc1a2 C T 2: 102,574,208 (GRCm39) T206I probably benign Het
Slc25a19 C A 11: 115,515,032 (GRCm39) R42L probably damaging Het
St14 G A 9: 31,002,620 (GRCm39) probably benign Het
Stxbp1 C T 2: 32,692,917 (GRCm39) probably benign Het
Tas2r131 C T 6: 132,934,792 (GRCm39) V6I probably benign Het
Tdo2 T A 3: 81,871,307 (GRCm39) M235L probably benign Het
Tenm3 T G 8: 48,685,140 (GRCm39) H2432P probably damaging Het
Tmprss15 C T 16: 78,821,630 (GRCm39) probably benign Het
Tmx1 A G 12: 70,500,030 (GRCm39) N30D probably benign Het
Tom1 A G 8: 75,791,020 (GRCm39) probably null Het
Top2a T C 11: 98,913,781 (GRCm39) N20S probably benign Het
Ttc23l T A 15: 10,540,049 (GRCm39) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm39) M3351K possibly damaging Het
Vmn1r47 T C 6: 89,999,641 (GRCm39) S258P probably damaging Het
Vmn2r8 T G 5: 108,945,317 (GRCm39) probably null Het
Vps11 T C 9: 44,265,135 (GRCm39) Q641R probably null Het
Wapl T A 14: 34,414,281 (GRCm39) I381N probably damaging Het
Zmym6 G A 4: 127,016,601 (GRCm39) G794E probably damaging Het
Other mutations in Evi5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Evi5 APN 5 107,963,477 (GRCm39) missense probably benign 0.05
IGL01458:Evi5 APN 5 107,963,513 (GRCm39) missense probably damaging 1.00
IGL01615:Evi5 APN 5 107,912,573 (GRCm39) missense probably damaging 1.00
IGL01939:Evi5 APN 5 107,964,790 (GRCm39) unclassified probably benign
IGL02170:Evi5 APN 5 107,969,750 (GRCm39) missense probably benign 0.45
IGL02539:Evi5 APN 5 107,963,531 (GRCm39) missense probably benign 0.09
IGL02655:Evi5 APN 5 107,961,446 (GRCm39) missense probably benign 0.36
IGL03040:Evi5 APN 5 107,969,672 (GRCm39) missense probably damaging 1.00
IGL03058:Evi5 APN 5 107,896,017 (GRCm39) missense probably damaging 0.98
R0125:Evi5 UTSW 5 107,943,638 (GRCm39) missense probably benign 0.06
R0172:Evi5 UTSW 5 107,938,328 (GRCm39) missense probably benign
R0334:Evi5 UTSW 5 107,968,401 (GRCm39) missense probably damaging 0.97
R0526:Evi5 UTSW 5 107,969,614 (GRCm39) missense probably benign 0.44
R0579:Evi5 UTSW 5 107,969,575 (GRCm39) missense probably benign 0.36
R0585:Evi5 UTSW 5 107,961,402 (GRCm39) unclassified probably benign
R1123:Evi5 UTSW 5 107,968,444 (GRCm39) missense probably benign 0.02
R1618:Evi5 UTSW 5 107,946,984 (GRCm39) splice site probably benign
R1699:Evi5 UTSW 5 107,966,786 (GRCm39) missense probably damaging 1.00
R1772:Evi5 UTSW 5 107,943,707 (GRCm39) missense probably benign 0.32
R1969:Evi5 UTSW 5 107,896,230 (GRCm39) missense probably benign 0.04
R1977:Evi5 UTSW 5 107,947,005 (GRCm39) nonsense probably null
R2010:Evi5 UTSW 5 107,961,411 (GRCm39) critical splice donor site probably null
R3736:Evi5 UTSW 5 107,966,849 (GRCm39) missense probably damaging 0.98
R5047:Evi5 UTSW 5 107,969,740 (GRCm39) missense probably damaging 1.00
R5252:Evi5 UTSW 5 107,943,618 (GRCm39) missense probably benign
R5350:Evi5 UTSW 5 107,963,544 (GRCm39) missense probably benign 0.08
R5552:Evi5 UTSW 5 107,966,855 (GRCm39) missense probably damaging 1.00
R5594:Evi5 UTSW 5 107,968,317 (GRCm39) missense possibly damaging 0.84
R5895:Evi5 UTSW 5 107,968,302 (GRCm39) missense probably damaging 1.00
R6334:Evi5 UTSW 5 107,968,387 (GRCm39) nonsense probably null
R6364:Evi5 UTSW 5 107,989,979 (GRCm39) missense probably damaging 1.00
R6838:Evi5 UTSW 5 107,990,027 (GRCm39) missense possibly damaging 0.94
R6861:Evi5 UTSW 5 107,896,184 (GRCm39) missense probably benign 0.00
R7032:Evi5 UTSW 5 107,936,147 (GRCm39) missense probably benign 0.14
R7386:Evi5 UTSW 5 107,957,689 (GRCm39) splice site probably null
R7844:Evi5 UTSW 5 108,022,860 (GRCm39) missense probably benign 0.00
R8248:Evi5 UTSW 5 107,966,753 (GRCm39) critical splice donor site probably null
R8298:Evi5 UTSW 5 107,964,731 (GRCm39) missense possibly damaging 0.53
R9081:Evi5 UTSW 5 107,963,571 (GRCm39) missense probably benign 0.44
R9431:Evi5 UTSW 5 107,990,150 (GRCm39) missense probably damaging 1.00
R9533:Evi5 UTSW 5 107,957,566 (GRCm39) missense probably damaging 1.00
R9612:Evi5 UTSW 5 107,943,578 (GRCm39) missense probably benign 0.00
R9634:Evi5 UTSW 5 107,964,663 (GRCm39) missense probably benign 0.01
R9765:Evi5 UTSW 5 107,947,120 (GRCm39) missense probably benign
X0018:Evi5 UTSW 5 107,966,753 (GRCm39) critical splice donor site probably null
X0027:Evi5 UTSW 5 107,912,628 (GRCm39) missense probably damaging 0.98
Z1177:Evi5 UTSW 5 107,896,245 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGATTATCTTACGTGGAACCGGAAGG -3'
(R):5'- GAGTTGCGTCTCAGTGAGAATGACC -3'

Sequencing Primer
(F):5'- CAGTTAAGCATTACCGTGGC -3'
(R):5'- GTCTCAGTGAGAATGACCACTCTG -3'
Posted On 2013-04-16