Incidental Mutation 'R2175:Evi5l'
ID 236827
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 040177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2175 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 4216523-4258089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4237269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 124 (H124R)
Ref Sequence ENSEMBL: ENSMUSP00000134857 (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: H124R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
AA Change: H124R

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: H124R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832
AA Change: H124R

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 damaging
Transcript: ENSMUST00000176764
AA Change: H124R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832
AA Change: H124R

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: H124R

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832
AA Change: H124R

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 damaging
Transcript: ENSMUST00000177053
AA Change: H124R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832
AA Change: H124R

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: ENSMUST00000177309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177077
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,078,475 (GRCm39) Y583F probably benign Het
Adra2a A G 19: 54,034,793 (GRCm39) T50A probably benign Het
Alox8 T C 11: 69,078,592 (GRCm39) Y367C possibly damaging Het
Ankfn1 A G 11: 89,417,363 (GRCm39) L83P probably damaging Het
Asxl3 T C 18: 22,649,652 (GRCm39) L547P probably benign Het
Cox10 G A 11: 63,962,475 (GRCm39) A122V probably benign Het
Cttnbp2 A C 6: 18,434,828 (GRCm39) probably null Het
Eml5 A T 12: 98,842,482 (GRCm39) C205* probably null Het
Ephx3 T A 17: 32,407,433 (GRCm39) T204S possibly damaging Het
Ext1 G T 15: 52,932,124 (GRCm39) P726Q probably damaging Het
Fam151b T C 13: 92,614,426 (GRCm39) R21G probably damaging Het
Hdac1 G A 4: 129,428,463 (GRCm39) R36C probably damaging Het
Ift172 A G 5: 31,424,029 (GRCm39) Y715H probably damaging Het
Inpp4b T C 8: 82,583,328 (GRCm39) F144S probably damaging Het
Lepr T A 4: 101,622,576 (GRCm39) I452N probably benign Het
Mok T C 12: 110,781,634 (GRCm39) H6R probably benign Het
Myef2 A T 2: 124,940,375 (GRCm39) M392K probably damaging Het
Ncoa2 G A 1: 13,294,837 (GRCm39) P28S probably damaging Het
Nfrkb A G 9: 31,300,310 (GRCm39) T34A possibly damaging Het
Nkx1-1 G A 5: 33,588,598 (GRCm39) A230V probably benign Het
Or10ag2 T A 2: 87,248,500 (GRCm39) L34H probably damaging Het
Or5an1b T A 19: 12,299,885 (GRCm39) Y102F probably damaging Het
Ryr1 T G 7: 28,767,867 (GRCm39) K2890T probably damaging Het
Siae G T 9: 37,539,092 (GRCm39) D168Y probably damaging Het
Smarcc1 A T 9: 109,993,877 (GRCm39) T241S possibly damaging Het
Steap2 T A 5: 5,723,501 (GRCm39) I460F probably damaging Het
Strap A G 6: 137,727,590 (GRCm39) T345A probably benign Het
Tex2 A G 11: 106,394,513 (GRCm39) V1099A unknown Het
Thsd7a T C 6: 12,331,943 (GRCm39) T1290A possibly damaging Het
Unc80 G A 1: 66,716,514 (GRCm39) G2878D probably damaging Het
Vmn2r63 C T 7: 42,583,004 (GRCm39) probably null Het
Xirp2 C T 2: 67,340,258 (GRCm39) T833I probably damaging Het
Zcchc2 T C 1: 105,955,153 (GRCm39) S615P probably damaging Het
Zfp148 C G 16: 33,317,116 (GRCm39) S554* probably null 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
R0280:Evi5l UTSW 8 4,243,133 (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
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'- CAGATGTCCTCTGTACCACG -3'
(R):5'- ATACTGGAGGGCCTTACCTTC -3'

Sequencing Primer
(F):5'- AGATGTCCTCTGTACCACGTGTAAC -3'
(R):5'- GAGGGCCTTACCTTCATGACATTG -3'
Posted On 2014-10-02