Incidental Mutation 'IGL02684:Fam84a'
ID303469
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: 0.182) question?
Stock #IGL02684
Quality Score
Status
Chromosome12
Chromosomal Location14146830-14152054 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14150645 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000020926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020926] [ENSMUST00000221405]
Predicted Effect probably damaging
Transcript: ENSMUST00000020926
AA Change: D27G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020926
Gene: ENSMUSG00000020607
AA Change: D27G

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 71 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221405
AA Change: D27G

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Fam84a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Fam84a APN 12 14150526 missense probably benign 0.14
IGL01446:Fam84a APN 12 14149928 missense probably damaging 1.00
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 On2015-04-16