Incidental Mutation 'IGL01964:Efr3b'
ID181510
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 #IGL01964
Quality Score
Status
Chromosome12
Chromosomal Location3962554-4038915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3982928 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 143 (L143Q)
Ref Sequence ENSEMBL: ENSMUSP00000151788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111178] [ENSMUST00000218166]
Predicted Effect probably damaging
Transcript: ENSMUST00000111178
AA Change: L259Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: L259Q

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 damaging
Transcript: ENSMUST00000218166
AA Change: L143Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T C 3: 108,778,277 V579A probably benign Het
Ankrd11 A G 8: 122,889,736 I2438T probably damaging Het
Cdh11 A G 8: 102,664,743 V287A probably benign Het
Cdyl2 G A 8: 116,624,029 S121L probably benign Het
Cyp2e1 A T 7: 140,763,866 I6F probably damaging Het
Cyp3a16 A T 5: 145,455,562 D194E probably benign Het
Eapp G T 12: 54,685,935 P126Q probably damaging Het
Gm5346 A C 8: 43,626,761 I142S probably benign Het
Grin2c C T 11: 115,253,847 E618K probably damaging Het
Haus3 A T 5: 34,166,061 Y402N probably benign Het
Iffo1 A G 6: 125,151,401 D316G probably damaging Het
Kctd19 A T 8: 105,388,525 M468K probably damaging Het
Kdm4b T A 17: 56,389,256 probably null Het
Naip6 T A 13: 100,298,730 probably benign Het
Olfr178 A T 16: 58,889,464 I252K probably damaging Het
Polr3c T C 3: 96,711,975 probably benign Het
Poteg A T 8: 27,448,008 E60V probably damaging Het
Rnd2 T C 11: 101,470,806 probably null Het
Rufy3 A G 5: 88,615,070 Q153R probably damaging Het
Shank1 T A 7: 44,325,678 I399N unknown Het
Sin3a T C 9: 57,107,347 probably benign Het
Sppl2b T A 10: 80,865,386 probably null Het
Srgap1 G A 10: 121,804,966 P665L possibly damaging Het
Srgap2 G T 1: 131,289,578 Q999K probably benign Het
Tbxas1 G A 6: 39,083,814 V496I probably benign Het
Vmn1r198 A G 13: 22,354,406 M21V probably benign Het
Wdr90 T C 17: 25,848,409 I1479V probably benign 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
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
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
R8071:Efr3b UTSW 12 3982898 missense probably benign 0.02
Posted On2014-05-07