Incidental Mutation 'R7859:Evi2a'
ID 607371
Institutional Source Beutler Lab
Gene Symbol Evi2a
Ensembl Gene ENSMUSG00000078771
Gene Name ecotropic viral integration site 2a
Synonyms Evi2, Evi-2
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 79417386-79421435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79418452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 53 (S53G)
Ref Sequence ENSEMBL: ENSMUSP00000099526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000093983] [ENSMUST00000103236] [ENSMUST00000108251] [ENSMUST00000146611] [ENSMUST00000170422] [ENSMUST00000170799] [ENSMUST00000179322]
AlphaFold P20934
Predicted Effect probably benign
Transcript: ENSMUST00000071325
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716

DomainStartEndE-ValueType
RasGAP 1189 1559 2.56e-151 SMART
SEC14 1585 1737 2.36e-11 SMART
low complexity region 2619 2629 N/A INTRINSIC
low complexity region 2750 2763 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093983
AA Change: S53G

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354
AA Change: S53G

DomainStartEndE-ValueType
Pfam:EVI2A 1 75 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103236
AA Change: S53G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099526
Gene: ENSMUSG00000078771
AA Change: S53G

DomainStartEndE-ValueType
Pfam:EVI2A 1 223 5.4e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108251
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716

DomainStartEndE-ValueType
RasGAP 1189 1538 1.23e-153 SMART
SEC14 1564 1716 2.36e-11 SMART
low complexity region 2598 2608 N/A INTRINSIC
low complexity region 2729 2742 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146611
SMART Domains Protein: ENSMUSP00000115683
Gene: ENSMUSG00000078771

DomainStartEndE-ValueType
Pfam:EVI2A 28 59 6.2e-14 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000170422
SMART Domains Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354

DomainStartEndE-ValueType
low complexity region 139 152 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
transmembrane domain 204 226 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 391 396 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170799
AA Change: S53G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125936
Gene: ENSMUSG00000078771
AA Change: S53G

DomainStartEndE-ValueType
Pfam:EVI2A 1 223 6.3e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179322
SMART Domains Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938

DomainStartEndE-ValueType
low complexity region 139 152 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
transmembrane domain 204 226 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 391 396 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Crkl T A 16: 17,286,960 (GRCm39) M172K probably damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Evi2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Evi2a APN 11 79,417,978 (GRCm39) missense probably damaging 1.00
IGL02093:Evi2a APN 11 79,418,490 (GRCm39) missense probably benign 0.43
R1440:Evi2a UTSW 11 79,418,096 (GRCm39) missense probably damaging 1.00
R1474:Evi2a UTSW 11 79,418,398 (GRCm39) missense probably benign 0.21
R2062:Evi2a UTSW 11 79,418,593 (GRCm39) nonsense probably null
R5135:Evi2a UTSW 11 79,418,277 (GRCm39) missense possibly damaging 0.70
R7282:Evi2a UTSW 11 79,418,249 (GRCm39) missense probably benign 0.43
R7788:Evi2a UTSW 11 79,418,768 (GRCm39) missense unknown
R7827:Evi2a UTSW 11 79,418,688 (GRCm39) unclassified probably benign
R8276:Evi2a UTSW 11 79,418,316 (GRCm39) missense probably damaging 1.00
R8788:Evi2a UTSW 11 79,418,531 (GRCm39) missense probably benign 0.01
R9430:Evi2a UTSW 11 79,418,523 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AATTAGCATGGCCGTGTTGC -3'
(R):5'- CAGATAGCAGTGGACCTGTAG -3'

Sequencing Primer
(F):5'- GCTGGTGTTCTCCTCACAGAC -3'
(R):5'- CCTGTAGGTATGGAGCACAAAG -3'
Posted On 2019-12-20