Incidental Mutation 'IGL02066:Fam83d'
ID185636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83d
Ensembl Gene ENSMUSG00000027654
Gene Namefamily with sequence similarity 83, member D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02066
Quality Score
Status
Chromosome2
Chromosomal Location158768093-158786637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 158785873 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 494 (T494M)
Ref Sequence ENSEMBL: ENSMUSP00000029183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029183]
Predicted Effect probably benign
Transcript: ENSMUST00000029183
AA Change: T494M

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029183
Gene: ENSMUSG00000027654
AA Change: T494M

DomainStartEndE-ValueType
Pfam:DUF1669 17 293 1.4e-100 PFAM
Pfam:PLDc_2 149 288 3.1e-12 PFAM
low complexity region 345 359 N/A INTRINSIC
low complexity region 458 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151801
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Agfg1 A G 1: 82,893,558 T483A probably damaging Het
Akr1c12 T C 13: 4,276,237 T82A probably damaging Het
Ano2 T A 6: 125,690,739 L6Q probably benign Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ppp6c T C 2: 39,199,671 T199A probably benign Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Fam83d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02420:Fam83d APN 2 158785735 missense probably benign 0.00
R0277:Fam83d UTSW 2 158785547 missense probably benign 0.05
R0323:Fam83d UTSW 2 158785547 missense probably benign 0.05
R0349:Fam83d UTSW 2 158779848 missense possibly damaging 0.95
R0571:Fam83d UTSW 2 158785691 nonsense probably null
R0799:Fam83d UTSW 2 158779888 missense probably damaging 1.00
R1164:Fam83d UTSW 2 158783250 missense probably damaging 1.00
R1168:Fam83d UTSW 2 158768523 missense probably benign 0.01
R1186:Fam83d UTSW 2 158785174 missense probably damaging 1.00
R1816:Fam83d UTSW 2 158768150 missense possibly damaging 0.55
R2896:Fam83d UTSW 2 158785978 missense probably damaging 1.00
R4500:Fam83d UTSW 2 158785267 missense probably benign 0.10
R4597:Fam83d UTSW 2 158785222 missense possibly damaging 0.94
R5416:Fam83d UTSW 2 158785632 missense possibly damaging 0.75
R5866:Fam83d UTSW 2 158779830 splice site probably null
R6328:Fam83d UTSW 2 158785176 missense probably damaging 1.00
R6364:Fam83d UTSW 2 158783259 critical splice donor site probably null
R7031:Fam83d UTSW 2 158785307 missense probably benign 0.01
Posted On2014-05-07