Incidental Mutation 'R9194:Fam83c'
ID 697847
Institutional Source Beutler Lab
Gene Symbol Fam83c
Ensembl Gene ENSMUSG00000074647
Gene Name family with sequence similarity 83, member C
Synonyms 5530400B04Rik
MMRRC Submission 068953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155671103-155676772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155671299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 712 (Y712F)
Ref Sequence ENSEMBL: ENSMUSP00000029143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000129830] [ENSMUST00000134278] [ENSMUST00000154841]
AlphaFold A2ARK0
Predicted Effect probably benign
Transcript: ENSMUST00000029142
SMART Domains Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 204 2.72e-136 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000029143
AA Change: Y712F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: Y712F

DomainStartEndE-ValueType
Pfam:DUF1669 61 337 3.1e-107 PFAM
low complexity region 347 357 N/A INTRINSIC
low complexity region 368 385 N/A INTRINSIC
low complexity region 398 411 N/A INTRINSIC
low complexity region 474 484 N/A INTRINSIC
low complexity region 570 589 N/A INTRINSIC
low complexity region 672 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109638
SMART Domains Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 70 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129830
SMART Domains Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 68 4.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134278
SMART Domains Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 1 58 5.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154841
SMART Domains Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 45 7.8e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,371 (GRCm39) M1K probably null Het
Adra1b A T 11: 43,726,263 (GRCm39) V218D probably damaging Het
Ank1 A G 8: 23,606,255 (GRCm39) S1216G possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap44 G T 16: 44,288,824 (GRCm39) D1525Y probably damaging Het
Chd8 A T 14: 52,439,650 (GRCm39) M2341K probably benign Het
Chst11 A G 10: 83,027,319 (GRCm39) T249A probably damaging Het
Cttnbp2 A G 6: 18,434,850 (GRCm39) V336A probably benign Het
Dennd3 T C 15: 73,419,153 (GRCm39) L648P probably benign Het
Dhx16 T C 17: 36,200,173 (GRCm39) V864A probably benign Het
Enpp3 G A 10: 24,675,092 (GRCm39) H362Y possibly damaging Het
Ess2 A T 16: 17,728,028 (GRCm39) D79E probably damaging Het
Helz C T 11: 107,561,113 (GRCm39) Q1392* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Iqch T C 9: 63,479,961 (GRCm39) H143R probably benign Het
Itgb5 A G 16: 33,720,881 (GRCm39) D315G probably damaging Het
Kcnmb2 A G 3: 32,236,174 (GRCm39) K141R probably benign Het
Lrrc37a G A 11: 103,391,676 (GRCm39) P1250S probably benign Het
Mcm5 T G 8: 75,836,962 (GRCm39) V110G probably damaging Het
Med27 G A 2: 29,361,312 (GRCm39) D163N probably damaging Het
Mms22l C A 4: 24,600,185 (GRCm39) Y1129* probably null Het
Mov10l1 G A 15: 88,931,023 (GRCm39) R1081H probably damaging Het
Mtpap C T 18: 4,380,834 (GRCm39) Q171* probably null Het
Mtpap C G 18: 4,380,833 (GRCm39) N170K probably benign Het
Myo6 T A 9: 80,153,836 (GRCm39) F271I unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nfatc1 C T 18: 80,751,258 (GRCm39) A26T probably benign Het
Or7d11 C A 9: 19,966,543 (GRCm39) C72F probably damaging Het
Piezo2 G C 18: 63,250,815 (GRCm39) T428S probably benign Het
Prkch A G 12: 73,768,616 (GRCm39) E462G probably damaging Het
Rbm20 A G 19: 53,823,131 (GRCm39) Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Rpp40 C T 13: 36,080,898 (GRCm39) D302N probably benign Het
Sash1 A G 10: 8,615,969 (GRCm39) V631A probably damaging Het
Sstr2 A G 11: 113,515,203 (GRCm39) T41A probably benign Het
Thsd7b T A 1: 129,843,371 (GRCm39) V861E possibly damaging Het
Tomm70a A G 16: 56,973,070 (GRCm39) K603E possibly damaging Het
Tpd52l2 T A 2: 181,141,683 (GRCm39) M22K possibly damaging Het
Tpst1 T A 5: 130,130,860 (GRCm39) L110Q possibly damaging Het
Tram1l1 A G 3: 124,115,137 (GRCm39) Y99C possibly damaging Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ubr1 A G 2: 120,778,325 (GRCm39) Y238H probably damaging Het
Vmn1r202 G T 13: 22,686,316 (GRCm39) H34N possibly damaging Het
Vmn1r36 G A 6: 66,693,036 (GRCm39) Q280* probably null Het
Xpnpep1 A T 19: 53,000,289 (GRCm39) V187E possibly damaging Het
Zfp592 A G 7: 80,674,349 (GRCm39) I438V probably benign Het
Other mutations in Fam83c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Fam83c APN 2 155,676,362 (GRCm39) missense probably damaging 1.00
IGL01470:Fam83c APN 2 155,676,728 (GRCm39) missense possibly damaging 0.73
IGL02695:Fam83c APN 2 155,673,435 (GRCm39) missense probably benign 0.04
R0255:Fam83c UTSW 2 155,671,672 (GRCm39) missense probably benign 0.00
R0321:Fam83c UTSW 2 155,671,620 (GRCm39) missense probably benign
R0449:Fam83c UTSW 2 155,672,215 (GRCm39) missense probably benign 0.00
R1596:Fam83c UTSW 2 155,672,982 (GRCm39) critical splice acceptor site probably null
R1635:Fam83c UTSW 2 155,671,971 (GRCm39) missense possibly damaging 0.95
R2006:Fam83c UTSW 2 155,672,223 (GRCm39) missense probably benign 0.04
R2165:Fam83c UTSW 2 155,673,444 (GRCm39) missense possibly damaging 0.94
R3840:Fam83c UTSW 2 155,676,668 (GRCm39) missense probably benign
R3841:Fam83c UTSW 2 155,676,668 (GRCm39) missense probably benign
R4693:Fam83c UTSW 2 155,672,154 (GRCm39) missense probably damaging 1.00
R5660:Fam83c UTSW 2 155,671,509 (GRCm39) missense probably benign 0.08
R6364:Fam83c UTSW 2 155,676,443 (GRCm39) missense probably damaging 1.00
R6563:Fam83c UTSW 2 155,672,872 (GRCm39) missense probably damaging 0.98
R6976:Fam83c UTSW 2 155,672,157 (GRCm39) missense possibly damaging 0.63
R7124:Fam83c UTSW 2 155,671,491 (GRCm39) missense probably benign 0.00
R7643:Fam83c UTSW 2 155,672,924 (GRCm39) missense possibly damaging 0.93
R8088:Fam83c UTSW 2 155,673,559 (GRCm39) missense probably damaging 0.98
R8113:Fam83c UTSW 2 155,676,740 (GRCm39) missense probably benign 0.33
R8212:Fam83c UTSW 2 155,671,207 (GRCm39) missense probably benign 0.00
R8710:Fam83c UTSW 2 155,671,642 (GRCm39) missense probably benign 0.01
R8719:Fam83c UTSW 2 155,671,128 (GRCm39) missense probably benign 0.00
R9549:Fam83c UTSW 2 155,676,672 (GRCm39) missense
R9642:Fam83c UTSW 2 155,672,980 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTAGGACTCAAAGCGACTTC -3'
(R):5'- AGCAAGCCAAGTCTAGATGAC -3'

Sequencing Primer
(F):5'- TCAAAGCGACTTCGGAGCTG -3'
(R):5'- CCAAGTCTAGATGACCGACGG -3'
Posted On 2022-02-07