Incidental Mutation 'R6364:Evi5'
ID 513400
Institutional Source Beutler Lab
Gene Symbol Evi5
Ensembl Gene ENSMUSG00000011831
Gene Name ecotropic viral integration site 5
Synonyms NB4S
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107892661-108022973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107989979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 80 (P80Q)
Ref Sequence ENSEMBL: ENSMUSP00000108261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112642
AA Change: P80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: P80Q

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 noncoding transcript
Transcript: ENSMUST00000117837
Predicted Effect unknown
Transcript: ENSMUST00000124034
AA Change: P36Q
SMART Domains Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: P36Q

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: ENSMUST00000127579
Predicted Effect unknown
Transcript: ENSMUST00000128723
AA Change: P36Q
SMART Domains Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: P36Q

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 unknown
Transcript: ENSMUST00000138111
AA Change: P36Q
SMART Domains Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: P36Q

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 probably damaging
Transcript: ENSMUST00000155955
AA Change: P64Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: P64Q

DomainStartEndE-ValueType
Blast:TBC 18 133 3e-20 BLAST
Pfam:RabGAP-TBC 150 222 1.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141673
Meta Mutation Damage Score 0.2764 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H 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
R0335:Evi5 UTSW 5 107,960,277 (GRCm39) missense probably benign 0.06
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
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'- GGCAATGCATGAAGCTGTATG -3'
(R):5'- AGCAGGATCACCAAGTTTGTGG -3'

Sequencing Primer
(F):5'- GCATGAAGCTGTATGTTACATAATTC -3'
(R):5'- CCCTTAGGTGGCGACAGACAAG -3'
Posted On 2018-04-27