Incidental Mutation 'R5970:Efr3b'
ID 470814
Institutional Source Beutler Lab
Gene Symbol Efr3b
Ensembl Gene ENSMUSG00000020658
Gene Name EFR3 homolog B
Synonyms C030014M07Rik
MMRRC Submission 044153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5970 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4012554-4088915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4018590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 585 (R585S)
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: R745S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106809
Gene: ENSMUSG00000020658
AA Change: R745S

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 possibly damaging
Transcript: ENSMUST00000218166
AA Change: R585S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219331
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 G A 6: 90,574,028 (GRCm39) probably benign Het
Ambn T C 5: 88,615,810 (GRCm39) V413A possibly damaging Het
Amotl1 T A 9: 14,507,824 (GRCm39) D41V probably damaging Het
Arhgef26 T C 3: 62,247,468 (GRCm39) V184A probably benign Het
Birc6 G T 17: 74,925,497 (GRCm39) G936V possibly damaging Het
Ccser1 T A 6: 61,288,226 (GRCm39) S130T possibly damaging Het
Cecr2 A G 6: 120,697,868 (GRCm39) I56V probably damaging Het
Cfap52 A G 11: 67,821,570 (GRCm39) I486T probably damaging Het
Col4a3 A G 1: 82,694,050 (GRCm39) I1557V possibly damaging Het
Col6a5 T A 9: 105,823,046 (GRCm39) I104F unknown Het
Cry2 A G 2: 92,243,312 (GRCm39) S510P probably benign Het
Csmd2 G C 4: 128,439,944 (GRCm39) A3133P probably benign Het
Cyld G T 8: 89,459,621 (GRCm39) A611S probably damaging Het
Dennd4c G A 4: 86,743,749 (GRCm39) G1197E probably damaging Het
Dnah10 T C 5: 124,885,793 (GRCm39) F2969L probably benign Het
Dnai1 A G 4: 41,625,281 (GRCm39) K415R probably benign Het
Dnmbp T A 19: 43,842,610 (GRCm39) T1253S probably benign Het
Dsp T C 13: 38,379,678 (GRCm39) L1542P possibly damaging Het
Duox1 T A 2: 122,170,682 (GRCm39) L1234Q probably damaging Het
Gpt A G 15: 76,583,552 (GRCm39) probably null Het
Heatr6 G A 11: 83,644,544 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,930 (GRCm39) D431G probably benign Het
Kdm3b A G 18: 34,962,342 (GRCm39) N1543D probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mical3 G A 6: 120,935,232 (GRCm39) Q893* probably null Het
Morc3 C T 16: 93,663,341 (GRCm39) H515Y possibly damaging Het
Mprip A T 11: 59,648,547 (GRCm39) R750S probably damaging Het
Mroh1 G A 15: 76,335,691 (GRCm39) V1436M probably benign Het
Muc5ac C T 7: 141,344,406 (GRCm39) R69* probably null Het
Muc5b A T 7: 141,410,449 (GRCm39) Y1274F unknown Het
Mybpc1 A G 10: 88,378,318 (GRCm39) L674P probably damaging Het
Mypn A G 10: 62,966,802 (GRCm39) V958A probably benign Het
Nipbl T C 15: 8,326,302 (GRCm39) T2436A probably benign Het
Or7g20 A G 9: 18,946,443 (GRCm39) D8G probably benign Het
Pcdhb5 T A 18: 37,454,826 (GRCm39) L402Q probably damaging Het
Pigp T A 16: 94,171,053 (GRCm39) probably null Het
Rp1 A G 1: 4,418,685 (GRCm39) L809P probably benign Het
Scn3a T A 2: 65,325,125 (GRCm39) probably benign Het
Sdf2 A T 11: 78,136,906 (GRCm39) M29L probably benign Het
Serpina3b T G 12: 104,100,350 (GRCm39) L311V possibly damaging Het
Snx31 A T 15: 36,523,634 (GRCm39) Y349* probably null Het
Spidr A C 16: 15,932,733 (GRCm39) C182W probably damaging Het
St13 A T 15: 81,261,999 (GRCm39) S146R probably damaging Het
St8sia4 A G 1: 95,581,307 (GRCm39) V145A probably damaging Het
Stradb T C 1: 59,019,175 (GRCm39) probably null Het
Tcp11l2 T A 10: 84,430,661 (GRCm39) probably benign Het
Tfdp2 C T 9: 96,199,627 (GRCm39) P74S unknown Het
Tmprss15 C T 16: 78,854,547 (GRCm39) R287H probably benign Het
Trav10d T C 14: 53,048,779 (GRCm39) Y57H probably damaging Het
Vmn2r104 A G 17: 20,249,733 (GRCm39) I846T probably benign Het
Ywhah T A 5: 33,184,292 (GRCm39) M165K possibly damaging Het
Zfp324 C A 7: 12,703,293 (GRCm39) P72T 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
R0361:Efr3b UTSW 12 4,027,923 (GRCm39) missense probably benign 0.00
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
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'- ACTCCCAATTTCTGCAGTACAAAG -3'
(R):5'- GCTCAGCTACGGTCCATTTAAC -3'

Sequencing Primer
(F):5'- GAACCAAGGTTTGAACTCGGTTC -3'
(R):5'- AGCTACGGTCCATTTAACTGATTC -3'
Posted On 2017-03-31