Incidental Mutation 'R0361:Efr3b'
ID 30127
Institutional Source Beutler Lab
Gene Symbol Efr3b
Ensembl Gene ENSMUSG00000020658
Gene Name EFR3 homolog B
Synonyms C030014M07Rik
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0361 (G1)
Quality Score 202
Status Not validated
Chromosome 12
Chromosomal Location 4012554-4088915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4027923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 376 (S376T)
Ref Sequence ENSEMBL: ENSMUSP00000151788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111178] [ENSMUST00000218166] [ENSMUST00000219331]
AlphaFold Q6ZQ18
Predicted Effect probably benign
Transcript: ENSMUST00000111178
AA Change: S492T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: S492T

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: S376T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000219331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219797
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Efr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Efr3b APN 12 4,025,411 (GRCm39) nonsense probably null
IGL01288:Efr3b APN 12 4,032,865 (GRCm39) missense probably damaging 1.00
IGL01467:Efr3b APN 12 4,019,597 (GRCm39) missense probably damaging 0.98
IGL01964:Efr3b APN 12 4,032,928 (GRCm39) missense probably damaging 1.00
IGL02253:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02329:Efr3b APN 12 4,042,923 (GRCm39) splice site probably null
IGL02365:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02373:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02390:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02392:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02494:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02496:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02501:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02529:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02530:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02532:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02699:Efr3b APN 12 4,033,391 (GRCm39) missense probably benign 0.40
IGL02716:Efr3b APN 12 4,034,627 (GRCm39) missense probably damaging 1.00
IGL02904:Efr3b APN 12 4,034,583 (GRCm39) missense probably damaging 0.99
IGL02986:Efr3b APN 12 4,016,495 (GRCm39) missense probably benign 0.13
IGL03171:Efr3b APN 12 4,018,622 (GRCm39) missense probably benign 0.00
IGL03346:Efr3b APN 12 4,034,648 (GRCm39) missense probably damaging 1.00
PIT4418001:Efr3b UTSW 12 4,030,490 (GRCm39) missense possibly damaging 0.64
R0017:Efr3b UTSW 12 4,043,003 (GRCm39) missense probably damaging 0.98
R0189:Efr3b UTSW 12 4,032,925 (GRCm39) missense probably damaging 1.00
R0469:Efr3b UTSW 12 4,032,058 (GRCm39) missense probably benign 0.02
R0510:Efr3b UTSW 12 4,032,058 (GRCm39) missense probably benign 0.02
R0782:Efr3b UTSW 12 4,034,686 (GRCm39) splice site probably benign
R2042:Efr3b UTSW 12 4,034,627 (GRCm39) missense probably damaging 1.00
R2359:Efr3b UTSW 12 4,030,136 (GRCm39) unclassified probably benign
R3691:Efr3b UTSW 12 4,032,059 (GRCm39) missense possibly damaging 0.84
R3849:Efr3b UTSW 12 4,033,414 (GRCm39) missense probably benign 0.40
R5384:Efr3b UTSW 12 4,033,419 (GRCm39) missense probably benign 0.04
R5819:Efr3b UTSW 12 4,042,965 (GRCm39) missense probably benign 0.21
R5970:Efr3b UTSW 12 4,018,590 (GRCm39) missense possibly damaging 0.93
R6031:Efr3b UTSW 12 4,017,106 (GRCm39) missense possibly damaging 0.90
R6031:Efr3b UTSW 12 4,017,106 (GRCm39) missense possibly damaging 0.90
R6759:Efr3b UTSW 12 4,034,613 (GRCm39) missense probably damaging 1.00
R6969:Efr3b UTSW 12 4,018,624 (GRCm39) missense probably benign 0.08
R7392:Efr3b UTSW 12 4,019,588 (GRCm39) missense probably benign
R7717:Efr3b UTSW 12 4,034,574 (GRCm39) missense probably damaging 1.00
R8071:Efr3b UTSW 12 4,032,898 (GRCm39) missense probably benign 0.02
R8686:Efr3b UTSW 12 4,050,886 (GRCm39) missense probably damaging 1.00
R8737:Efr3b UTSW 12 4,049,594 (GRCm39) missense probably damaging 1.00
R8942:Efr3b UTSW 12 4,032,091 (GRCm39) missense possibly damaging 0.74
R9105:Efr3b UTSW 12 4,031,782 (GRCm39) missense probably damaging 1.00
R9345:Efr3b UTSW 12 4,033,409 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACCTGAAATGTCCCTTAGTACCTGC -3'
(R):5'- ACTTCTCTCCGCACCATGCAAG -3'

Sequencing Primer
(F):5'- ATTCTACTTTCAAATGCCCACAG -3'
(R):5'- GCAAGAGAGACATACTTAGTGTTCC -3'
Posted On 2013-04-24