Incidental Mutation 'IGL02253:Efr3b'
ID286513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Efr3b
Ensembl Gene ENSMUSG00000020658
Gene NameEFR3 homolog B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02253
Quality Score
Status
Chromosome12
Chromosomal Location3962554-4038915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 3983391 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 139 (V139I)
Ref Sequence ENSEMBL: ENSMUSP00000151788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111178] [ENSMUST00000218166]
Predicted Effect probably benign
Transcript: ENSMUST00000111178
AA Change: V255I

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: V255I

DomainStartEndE-ValueType
SCOP:d1qbkb_ 55 306 1e-3 SMART
low complexity region 591 602 N/A INTRINSIC
low complexity region 736 749 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217677
Predicted Effect probably benign
Transcript: ENSMUST00000218166
AA Change: V139I

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220181
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,207,959 E76G probably benign Het
Adamtsl2 A T 2: 27,098,697 T587S possibly damaging Het
Adgre4 T A 17: 55,760,573 M9K probably benign Het
Aff2 T A X: 69,830,791 V447E probably benign Het
Arhgef10l G T 4: 140,544,284 S425* probably null Het
Cabcoco1 T C 10: 68,436,277 probably null Het
Calcr T A 6: 3,707,523 H259L probably benign Het
Cdc42bpa T A 1: 180,031,596 probably benign Het
Cntnap5b C T 1: 100,164,211 H540Y possibly damaging Het
Cyp2a22 A T 7: 26,938,237 probably benign Het
Ddx3x T C X: 13,284,968 probably benign Het
Dnajc11 T A 4: 151,950,519 Y28* probably null Het
Dock11 T C X: 36,041,128 F1472S probably damaging Het
Dusp18 T C 11: 3,897,576 *189Q probably null Het
Dzip3 A T 16: 48,944,924 Y476N probably benign Het
Evc2 T A 5: 37,378,427 probably benign Het
Fam151b A T 13: 92,477,927 Y18N probably damaging Het
Gk5 T C 9: 96,137,771 F120S probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Kcna3 T C 3: 107,037,411 L330P probably damaging Het
Kctd20 A G 17: 28,961,486 N7S probably benign Het
Kmt2b G T 7: 30,581,727 R1276S probably damaging Het
Kmt2d C T 15: 98,858,175 probably benign Het
L2hgdh G A 12: 69,705,760 probably benign Het
Lifr T G 15: 7,190,604 V905G probably damaging Het
Mcm3ap T A 10: 76,470,065 V4E probably benign Het
Nrip3 A C 7: 109,761,744 probably null Het
Nsun2 T G 13: 69,619,539 V204G possibly damaging Het
Nup54 A G 5: 92,417,451 probably null Het
Olfr494 T A 7: 108,368,054 V188E possibly damaging Het
Olfr894 T A 9: 38,219,735 M304K probably benign Het
Pdcl3 A G 1: 38,994,930 D51G probably benign Het
Pdlim1 T C 19: 40,230,530 E219G probably damaging Het
Pld4 A C 12: 112,766,707 K239T probably damaging Het
Rgsl1 T C 1: 153,793,767 Y291C probably damaging Het
Rnf213 C A 11: 119,440,650 H2228Q probably benign Het
Rnf222 T A 11: 68,893,036 I143N probably damaging Het
Sirt7 A G 11: 120,620,867 I13T probably benign Het
Slfn10-ps A G 11: 83,029,064 noncoding transcript Het
Slx4ip T C 2: 137,000,275 probably null Het
Spata18 G T 5: 73,668,596 S164I possibly damaging Het
Ssfa2 A G 2: 79,660,444 T969A probably damaging Het
Stk26 T C X: 50,886,688 L212P probably damaging Het
Tmsb15a T C X: 135,719,702 I56V probably benign Het
Tnrc6b T A 15: 80,876,541 S150T probably damaging Het
Tubb3 T C 8: 123,420,820 M164T probably benign Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zyg11a A C 4: 108,183,695 V685G probably null Het
Other mutations in Efr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Efr3b APN 12 3975411 nonsense probably null
IGL01288:Efr3b APN 12 3982865 missense probably damaging 1.00
IGL01467:Efr3b APN 12 3969597 missense probably damaging 0.98
IGL01964:Efr3b APN 12 3982928 missense probably damaging 1.00
IGL02329:Efr3b APN 12 3992923 unclassified probably null
IGL02365:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02373:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02390:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02392:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02494:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02496:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02501:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02529:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02530:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02532:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02699:Efr3b APN 12 3983391 missense probably benign 0.40
IGL02716:Efr3b APN 12 3984627 missense probably damaging 1.00
IGL02904:Efr3b APN 12 3984583 missense probably damaging 0.99
IGL02986:Efr3b APN 12 3966495 missense probably benign 0.13
IGL03171:Efr3b APN 12 3968622 missense probably benign 0.00
IGL03346:Efr3b APN 12 3984648 missense probably damaging 1.00
PIT4418001:Efr3b UTSW 12 3980490 missense possibly damaging 0.64
R0017:Efr3b UTSW 12 3993003 missense probably damaging 0.98
R0189:Efr3b UTSW 12 3982925 missense probably damaging 1.00
R0361:Efr3b UTSW 12 3977923 missense probably benign 0.00
R0469:Efr3b UTSW 12 3982058 missense probably benign 0.02
R0510:Efr3b UTSW 12 3982058 missense probably benign 0.02
R0782:Efr3b UTSW 12 3984686 splice site probably benign
R2042:Efr3b UTSW 12 3984627 missense probably damaging 1.00
R2359:Efr3b UTSW 12 3980136 unclassified probably benign
R3691:Efr3b UTSW 12 3982059 missense possibly damaging 0.84
R3849:Efr3b UTSW 12 3983414 missense probably benign 0.40
R5384:Efr3b UTSW 12 3983419 missense probably benign 0.04
R5819:Efr3b UTSW 12 3992965 missense probably benign 0.21
R5970:Efr3b UTSW 12 3968590 missense possibly damaging 0.93
R6031:Efr3b UTSW 12 3967106 missense possibly damaging 0.90
R6031:Efr3b UTSW 12 3967106 missense possibly damaging 0.90
R6759:Efr3b UTSW 12 3984613 missense probably damaging 1.00
R6969:Efr3b UTSW 12 3968624 missense probably benign 0.08
R7392:Efr3b UTSW 12 3969588 missense probably benign
R7717:Efr3b UTSW 12 3984574 missense probably damaging 1.00
Posted On2015-04-16