Incidental Mutation 'R1415:Fam83e'
ID 159773
Institutional Source Beutler Lab
Gene Symbol Fam83e
Ensembl Gene ENSMUSG00000054161
Gene Name family with sequence similarity 83, member E
Synonyms 4930403C10Rik
MMRRC Submission 039471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R1415 (G1)
Quality Score 213
Status Not validated
Chromosome 7
Chromosomal Location 45370636-45378916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45376135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 283 (E283K)
Ref Sequence ENSEMBL: ENSMUSP00000114397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000094424] [ENSMUST00000129507] [ENSMUST00000209739] [ENSMUST00000210754]
AlphaFold Q80XS7
Predicted Effect probably benign
Transcript: ENSMUST00000075571
SMART Domains Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271

DomainStartEndE-ValueType
Pfam:Sulfotransfer_1 57 302 7.8e-84 PFAM
low complexity region 309 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094424
SMART Domains Protein: ENSMUSP00000091991
Gene: ENSMUSG00000070563

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:UPAR_LY6 23 97 1.7e-7 PFAM
low complexity region 99 123 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129507
AA Change: E283K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: E283K

DomainStartEndE-ValueType
Pfam:DUF1669 18 293 4.8e-105 PFAM
low complexity region 371 385 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146391
AA Change: G45E
Predicted Effect probably benign
Transcript: ENSMUST00000209739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210434
Predicted Effect probably benign
Transcript: ENSMUST00000210754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211124
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,303,982 (GRCm39) V135A probably benign Het
Adam21 C T 12: 81,606,321 (GRCm39) W480* probably null Het
Ccdc71 T A 9: 108,340,407 (GRCm39) Y73* probably null Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Dnajb11 T C 16: 22,689,371 (GRCm39) V264A probably benign Het
Fam135b T C 15: 71,328,777 (GRCm39) E1174G probably damaging Het
Gigyf1 A G 5: 137,517,478 (GRCm39) probably null Het
Letm1 A T 5: 33,926,906 (GRCm39) N130K probably benign Het
Lrp1b T C 2: 40,519,676 (GRCm39) Y137C probably damaging Het
Map3k2 A G 18: 32,361,330 (GRCm39) I597V possibly damaging Het
Nek1 A G 8: 61,542,720 (GRCm39) E770G probably benign Het
Or4d2b A C 11: 87,780,473 (GRCm39) V83G possibly damaging Het
Or52n2b A G 7: 104,565,543 (GRCm39) I320T probably benign Het
Pank2 T A 2: 131,124,638 (GRCm39) Y68* probably null Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Secisbp2l C A 2: 125,582,285 (GRCm39) G1057V probably benign Het
Slc30a2 C T 4: 134,076,660 (GRCm39) T265M probably damaging Het
Smarca2 A G 19: 26,688,084 (GRCm39) E1239G probably null Het
Snx30 C T 4: 59,879,261 (GRCm39) R167C probably damaging Het
Tmem26 T C 10: 68,614,491 (GRCm39) F302S possibly damaging Het
Tpgs2 A G 18: 25,301,610 (GRCm39) L19S probably damaging Het
Trp53bp1 T G 2: 121,066,665 (GRCm39) E687A probably damaging Het
Ttc27 C T 17: 75,046,667 (GRCm39) H243Y probably benign Het
Wdfy4 A T 14: 32,763,137 (GRCm39) V2318D possibly damaging Het
Wdr59 G A 8: 112,225,228 (GRCm39) P141S probably damaging Het
Zbed6 C T 1: 133,585,556 (GRCm39) V594M possibly damaging Het
Zfp787 C A 7: 6,135,694 (GRCm39) G186C probably damaging Het
Other mutations in Fam83e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Fam83e APN 7 45,376,493 (GRCm39) missense probably benign 0.12
IGL01590:Fam83e APN 7 45,373,360 (GRCm39) missense probably null 1.00
IGL02334:Fam83e APN 7 45,373,345 (GRCm39) missense probably benign 0.00
IGL03155:Fam83e APN 7 45,376,499 (GRCm39) missense possibly damaging 0.90
IGL03276:Fam83e APN 7 45,372,884 (GRCm39) missense possibly damaging 0.72
R0268:Fam83e UTSW 7 45,376,334 (GRCm39) missense probably benign
R0362:Fam83e UTSW 7 45,376,393 (GRCm39) missense probably benign 0.40
R0453:Fam83e UTSW 7 45,373,372 (GRCm39) missense probably damaging 1.00
R0832:Fam83e UTSW 7 45,376,135 (GRCm39) missense probably damaging 1.00
R0870:Fam83e UTSW 7 45,376,135 (GRCm39) missense probably damaging 1.00
R0871:Fam83e UTSW 7 45,376,135 (GRCm39) missense probably damaging 1.00
R1574:Fam83e UTSW 7 45,376,135 (GRCm39) missense probably damaging 1.00
R1574:Fam83e UTSW 7 45,376,135 (GRCm39) missense probably damaging 1.00
R1656:Fam83e UTSW 7 45,371,687 (GRCm39) missense probably benign
R1848:Fam83e UTSW 7 45,378,194 (GRCm39) missense possibly damaging 0.79
R1848:Fam83e UTSW 7 45,378,193 (GRCm39) nonsense probably null
R2189:Fam83e UTSW 7 45,371,607 (GRCm39) start codon destroyed probably null 0.88
R2256:Fam83e UTSW 7 45,378,194 (GRCm39) missense possibly damaging 0.79
R2256:Fam83e UTSW 7 45,378,193 (GRCm39) nonsense probably null
R2257:Fam83e UTSW 7 45,378,194 (GRCm39) missense possibly damaging 0.79
R2257:Fam83e UTSW 7 45,378,193 (GRCm39) nonsense probably null
R4376:Fam83e UTSW 7 45,373,317 (GRCm39) missense probably damaging 1.00
R4600:Fam83e UTSW 7 45,372,924 (GRCm39) missense probably benign 0.01
R5876:Fam83e UTSW 7 45,371,787 (GRCm39) splice site probably null
R6666:Fam83e UTSW 7 45,376,426 (GRCm39) missense probably benign
R6766:Fam83e UTSW 7 45,376,070 (GRCm39) missense probably damaging 1.00
R6781:Fam83e UTSW 7 45,371,571 (GRCm39) unclassified probably benign
R6933:Fam83e UTSW 7 45,371,818 (GRCm39) missense probably benign
R7320:Fam83e UTSW 7 45,371,896 (GRCm39) missense probably benign 0.16
R7477:Fam83e UTSW 7 45,378,404 (GRCm39) missense probably damaging 1.00
R7636:Fam83e UTSW 7 45,376,450 (GRCm39) missense probably damaging 1.00
R8675:Fam83e UTSW 7 45,373,293 (GRCm39) missense probably benign 0.02
R9328:Fam83e UTSW 7 45,372,912 (GRCm39) missense probably benign
R9577:Fam83e UTSW 7 45,376,439 (GRCm39) missense possibly damaging 0.88
R9705:Fam83e UTSW 7 45,371,921 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGTCCTCTTCACCAACGGAGCTG -3'
(R):5'- CGCTGTACACTCCTCAAGATGTCAC -3'

Sequencing Primer
(F):5'- CTGAGCCCTGTGAGATCATGTC -3'
(R):5'- CCTCAAGATGTCACTGAGAGCTG -3'
Posted On 2014-03-14