Incidental Mutation 'R0280:Evi5l'
ID 37457
Institutional Source Beutler Lab
Gene Symbol Evi5l
Ensembl Gene ENSMUSG00000011832
Gene Name ecotropic viral integration site 5 like
Synonyms B130050I23Rik, 2310039H16Rik, 1700084G18Rik, 3110007G05Rik
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 4216523-4258089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4243133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 339 (V339A)
Ref Sequence ENSEMBL: ENSMUSP00000134867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000176072] [ENSMUST00000176149] [ENSMUST00000176764] [ENSMUST00000176825] [ENSMUST00000177053]
AlphaFold H3BKQ3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148353
Predicted Effect probably damaging
Transcript: ENSMUST00000176072
AA Change: V339A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: V339A

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 415 451 4.14e-7 PROSPERO
coiled coil region 455 478 N/A INTRINSIC
internal_repeat_1 513 549 4.14e-7 PROSPERO
low complexity region 697 708 N/A INTRINSIC
low complexity region 732 743 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176149
AA Change: V339A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: V339A

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 463 509 1.56e-7 PROSPERO
coiled coil region 513 536 N/A INTRINSIC
internal_repeat_1 563 607 1.56e-7 PROSPERO
low complexity region 755 766 N/A INTRINSIC
low complexity region 790 801 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176462
Predicted Effect probably benign
Transcript: ENSMUST00000176764
AA Change: V339A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832
AA Change: V339A

DomainStartEndE-ValueType
Blast:TBC 27 100 4e-8 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
coiled coil region 363 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176825
AA Change: V339A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: V339A

DomainStartEndE-ValueType
Blast:TBC 27 100 2e-7 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
internal_repeat_1 452 498 1.86e-7 PROSPERO
coiled coil region 502 525 N/A INTRINSIC
internal_repeat_1 552 596 1.86e-7 PROSPERO
low complexity region 744 755 N/A INTRINSIC
low complexity region 779 790 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177053
AA Change: V339A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832
AA Change: V339A

DomainStartEndE-ValueType
Blast:TBC 27 100 3e-8 BLAST
low complexity region 101 116 N/A INTRINSIC
TBC 117 328 1.57e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177309
Meta Mutation Damage Score 0.1093 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Evi5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Evi5l APN 8 4,243,219 (GRCm39) critical splice donor site probably null
IGL02143:Evi5l APN 8 4,241,293 (GRCm39) missense probably damaging 0.99
IGL02322:Evi5l APN 8 4,237,236 (GRCm39) splice site probably benign
IGL02528:Evi5l APN 8 4,243,172 (GRCm39) missense probably benign 0.25
IGL02822:Evi5l APN 8 4,237,248 (GRCm39) missense probably damaging 1.00
R1764:Evi5l UTSW 8 4,253,560 (GRCm39) missense probably damaging 0.98
R2032:Evi5l UTSW 8 4,260,622 (GRCm39) missense probably damaging 1.00
R2158:Evi5l UTSW 8 4,243,195 (GRCm39) missense probably damaging 0.99
R2175:Evi5l UTSW 8 4,237,269 (GRCm39) missense probably damaging 1.00
R2357:Evi5l UTSW 8 4,243,113 (GRCm39) splice site probably benign
R3055:Evi5l UTSW 8 4,241,603 (GRCm39) nonsense probably null
R3724:Evi5l UTSW 8 4,228,080 (GRCm39) intron probably benign
R3956:Evi5l UTSW 8 4,241,358 (GRCm39) missense possibly damaging 0.72
R4342:Evi5l UTSW 8 4,233,492 (GRCm39) utr 5 prime probably benign
R4621:Evi5l UTSW 8 4,252,909 (GRCm39) intron probably benign
R4622:Evi5l UTSW 8 4,252,909 (GRCm39) intron probably benign
R4959:Evi5l UTSW 8 4,255,406 (GRCm39) missense probably benign 0.00
R4973:Evi5l UTSW 8 4,255,406 (GRCm39) missense probably benign 0.00
R5052:Evi5l UTSW 8 4,256,019 (GRCm39) intron probably benign
R5097:Evi5l UTSW 8 4,243,317 (GRCm39) missense probably damaging 0.97
R5344:Evi5l UTSW 8 4,235,990 (GRCm39) missense possibly damaging 0.78
R5357:Evi5l UTSW 8 4,253,623 (GRCm39) missense possibly damaging 0.63
R5376:Evi5l UTSW 8 4,260,770 (GRCm39) missense probably damaging 0.99
R5382:Evi5l UTSW 8 4,228,653 (GRCm39) intron probably benign
R5500:Evi5l UTSW 8 4,241,658 (GRCm39) missense probably damaging 0.96
R5554:Evi5l UTSW 8 4,256,491 (GRCm39) splice site probably benign
R5689:Evi5l UTSW 8 4,255,460 (GRCm39) nonsense probably null
R5788:Evi5l UTSW 8 4,256,800 (GRCm39) utr 3 prime probably benign
R6321:Evi5l UTSW 8 4,253,080 (GRCm39) missense probably benign
R6520:Evi5l UTSW 8 4,255,906 (GRCm39) missense possibly damaging 0.76
R6620:Evi5l UTSW 8 4,256,674 (GRCm39) missense possibly damaging 0.84
R6707:Evi5l UTSW 8 4,256,322 (GRCm39) missense probably benign
R7232:Evi5l UTSW 8 4,255,906 (GRCm39) missense possibly damaging 0.71
R7692:Evi5l UTSW 8 4,250,886 (GRCm39) missense probably damaging 1.00
R7985:Evi5l UTSW 8 4,253,536 (GRCm39) missense probably benign 0.27
R8162:Evi5l UTSW 8 4,241,300 (GRCm39) missense probably damaging 1.00
R8474:Evi5l UTSW 8 4,260,784 (GRCm39) missense possibly damaging 0.94
R8512:Evi5l UTSW 8 4,243,121 (GRCm39) missense probably benign 0.01
R8758:Evi5l UTSW 8 4,255,860 (GRCm39) missense probably benign 0.13
R8970:Evi5l UTSW 8 4,236,154 (GRCm39) splice site probably benign
R9138:Evi5l UTSW 8 4,233,582 (GRCm39) missense probably benign 0.03
X0062:Evi5l UTSW 8 4,241,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCATGGCACACAGTATCTCAC -3'
(R):5'- GGCACTCACTTTGATCTCGATCTGC -3'

Sequencing Primer
(F):5'- ggatgggactcaggtcagg -3'
(R):5'- TTCTCCAGCCTGTGAGGAC -3'
Posted On 2013-05-23