Incidental Mutation 'IGL02529:Efr3b'
ID297247
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 #IGL02529
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,233 H925L probably benign Het
Agpat5 T A 8: 18,881,754 Y297N possibly damaging Het
Apobec3 C T 15: 79,897,687 probably benign Het
Atpaf1 C A 4: 115,791,269 A161E probably damaging Het
Bnc1 A T 7: 81,977,368 D91E probably damaging Het
Capg G A 6: 72,555,846 V98I probably benign Het
Ccdc7b C T 8: 129,178,225 L115F possibly damaging Het
Ces2a T A 8: 104,737,219 probably benign Het
Cldn6 T G 17: 23,681,317 V85G probably damaging Het
Clec2e T C 6: 129,098,496 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx38 T C 8: 109,559,013 E396G probably benign Het
Dock8 A T 19: 25,100,926 K532* probably null Het
Gmip G A 8: 69,816,789 G537E probably damaging Het
Hacd1 T C 2: 14,045,202 H64R probably damaging Het
Hdac3 G T 18: 37,944,132 Q230K probably benign Het
Htt C T 5: 34,819,043 probably benign Het
Il18r1 A G 1: 40,487,059 D255G possibly damaging Het
Krt82 T A 15: 101,550,396 R70* probably null Het
Krt9 G T 11: 100,189,966 H353Q probably damaging Het
Kyat3 T C 3: 142,720,474 I57T probably benign Het
L1td1 A G 4: 98,737,421 K618E probably benign Het
Limch1 C A 5: 67,002,613 N617K possibly damaging Het
Lsm8 T C 6: 18,851,652 F34S probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mmrn2 C A 14: 34,398,613 A480E possibly damaging Het
Mthfd1 A G 12: 76,303,709 I474V probably benign Het
Mycl A G 4: 122,996,977 K152R probably damaging Het
Numa1 A G 7: 101,999,953 probably null Het
Olfr474 G T 7: 107,955,216 V192F possibly damaging Het
Otog A C 7: 46,259,957 D617A probably damaging Het
Ppef2 A G 5: 92,244,737 I267T probably damaging Het
Ptprq A G 10: 107,635,365 Y1392H probably benign Het
Rasgrp3 G T 17: 75,525,102 K639N possibly damaging Het
Rgs19 C T 2: 181,689,150 R203H probably benign Het
Scnn1g C A 7: 121,742,446 probably benign Het
Tmem181b-ps T C 17: 6,466,921 noncoding transcript Het
Vmn2r118 A G 17: 55,610,870 V214A possibly damaging Het
Zfp811 T C 17: 32,797,815 Y417C probably damaging 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
IGL02253:Efr3b APN 12 3983391 missense probably benign 0.40
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
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