Incidental Mutation 'IGL02530:Efr3b'
ID297284
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 #IGL02530
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,909,376 F305L probably damaging Het
Ankrd12 T C 17: 65,984,403 H1345R probably benign Het
Bloc1s5 A T 13: 38,603,883 M175K probably damaging Het
C9 T A 15: 6,497,132 M549K probably benign Het
Cfap52 A G 11: 67,954,181 probably benign Het
Cntnap2 A T 6: 47,021,736 K907N possibly damaging Het
Cox8c T A 12: 102,899,493 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26b1 A T 6: 84,574,312 N307K possibly damaging Het
Cyp2s1 T C 7: 25,816,424 probably benign Het
Dpysl2 G A 14: 66,824,398 T253I probably damaging Het
Egflam T A 15: 7,222,812 I835F probably damaging Het
Eif5a A T 11: 69,919,163 H51Q possibly damaging Het
Fancd2 T A 6: 113,562,461 I637N probably damaging Het
Gpr173 T A X: 152,347,096 H127L probably damaging Het
Klc3 T C 7: 19,397,044 I203V probably benign Het
Lsg1 T C 16: 30,571,242 K352E probably benign Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med12l G T 3: 59,077,089 D483Y probably damaging Het
Mlh1 A G 9: 111,229,875 Y694H probably benign Het
Mmrn1 A G 6: 60,958,176 R219G possibly damaging Het
Nsd1 T C 13: 55,302,833 probably benign Het
Olfr1080 C T 2: 86,553,880 M81I possibly damaging Het
Olfr1392 A T 11: 49,293,728 M136L possibly damaging Het
Pax3 A T 1: 78,121,787 S322T possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Plekhb2 T C 1: 34,876,941 V187A possibly damaging Het
Pot1a A T 6: 25,794,593 F31I probably damaging Het
Rpap1 A T 2: 119,783,239 probably benign Het
Scmh1 T A 4: 120,528,146 probably benign Het
Scn2a A G 2: 65,730,178 T1251A probably damaging Het
Siglecf T C 7: 43,352,210 V148A probably benign Het
Slit3 A G 11: 35,708,142 *1524W probably null Het
Son C A 16: 91,658,471 P1369T possibly damaging Het
Spp2 T A 1: 88,411,146 L25* probably null Het
Sptbn4 T C 7: 27,391,551 Q1405R probably damaging Het
Traf3ip2 G T 10: 39,646,906 A463S possibly damaging Het
Trappc11 T C 8: 47,507,582 E27G probably damaging Het
Vmn2r12 C T 5: 109,085,992 V785I probably damaging Het
Zc3h8 A G 2: 128,943,926 probably benign Het
Zfp57 T A 17: 37,006,164 S45T 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
IGL02529: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