Incidental Mutation 'IGL01446:Fam84a'
ID84413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam84a
Ensembl Gene ENSMUSG00000020607
Gene Namefamily with sequence similarity 84, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL01446
Quality Score
Status
Chromosome12
Chromosomal Location14146830-14152054 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 14149928 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 266 (I266N)
Ref Sequence ENSEMBL: ENSMUSP00000020926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020926] [ENSMUST00000221405]
Predicted Effect probably damaging
Transcript: ENSMUST00000020926
AA Change: I266N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020926
Gene: ENSMUSG00000020607
AA Change: I266N

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 71 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221405
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging Het
Other mutations in Fam84a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Fam84a APN 12 14150526 missense probably benign 0.14
IGL02684:Fam84a APN 12 14150645 missense probably damaging 0.97
Grade UTSW 12 14149863 missense probably damaging 0.99
R1514:Fam84a UTSW 12 14149863 missense probably damaging 0.99
R1583:Fam84a UTSW 12 14150408 missense probably benign 0.25
R1800:Fam84a UTSW 12 14150225 missense probably damaging 0.98
R6074:Fam84a UTSW 12 14150511 missense probably benign 0.06
R6259:Fam84a UTSW 12 14150645 missense probably damaging 0.99
R7169:Fam84a UTSW 12 14150618 missense probably damaging 0.99
Posted On2013-11-11