Incidental Mutation 'R1583:Fam84a'
ID177273
Institutional Source Beutler Lab
Gene Symbol Fam84a
Ensembl Gene ENSMUSG00000020607
Gene Namefamily with sequence similarity 84, member A
Synonyms
MMRRC Submission 039620-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R1583 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location14146830-14152054 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 14150408 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 106 (A106V)
Ref Sequence ENSEMBL: ENSMUSP00000020926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020926] [ENSMUST00000221405]
Predicted Effect probably benign
Transcript: ENSMUST00000020926
AA Change: A106V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020926
Gene: ENSMUSG00000020607
AA Change: A106V

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 71 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221405
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 76,882,681 S691P probably benign Het
Adgrb3 T C 1: 25,226,831 probably null Het
Ankar A G 1: 72,679,555 probably benign Het
Aplf A T 6: 87,646,033 Y355N probably damaging Het
Bms1 A G 6: 118,389,389 probably benign Het
Catsperb T C 12: 101,463,114 I182T probably damaging Het
Cd300ld2 T C 11: 115,013,777 D88G probably benign Het
Cebpz T C 17: 78,934,752 N491S probably damaging Het
Crybg2 T C 4: 134,081,459 S1415P probably damaging Het
Ddc A G 11: 11,829,131 V331A probably benign Het
Decr2 T C 17: 26,083,024 E244G probably damaging Het
Dhrs11 A G 11: 84,823,117 M136T probably damaging Het
Eapp G A 12: 54,685,948 Q126* probably null Het
Fam111a T A 19: 12,587,778 V297D probably damaging Het
Fbxo10 A C 4: 45,062,118 L136R probably damaging Het
Fbxo30 T A 10: 11,291,374 H613Q possibly damaging Het
Frk A T 10: 34,591,810 probably null Het
Gm10392 T A 11: 77,517,481 D104V probably benign Het
Gm960 T A 19: 4,652,171 K282N probably damaging Het
Gpn1 A G 5: 31,497,338 E78G possibly damaging Het
Hhip T C 8: 79,990,276 Y506C probably damaging Het
Hid1 G A 11: 115,356,750 S274L possibly damaging Het
Immp2l G T 12: 41,703,765 probably benign Het
Klhl21 T C 4: 152,009,624 F228L possibly damaging Het
Lamc1 T A 1: 153,243,478 probably null Het
Lars G A 18: 42,210,050 R1101C probably damaging Het
Magi2 T C 5: 19,227,332 V15A probably benign Het
Map2k7 T C 8: 4,243,621 probably null Het
Mga T A 2: 119,963,960 H2590Q possibly damaging Het
Mlxip T C 5: 123,450,223 I238T possibly damaging Het
Mylk T A 16: 34,875,586 D230E probably benign Het
Nacad T A 11: 6,601,185 T669S probably benign Het
Nin C T 12: 70,031,738 M1691I probably benign Het
Nlrp4d C T 7: 10,382,237 A203T probably damaging Het
Olfr1204 T G 2: 88,852,262 F104C probably damaging Het
Olfr1301 A T 2: 111,754,425 M59L probably damaging Het
Olfr1495 A T 19: 13,768,510 H56L probably benign Het
Olfr201 A G 16: 59,269,031 V212A probably benign Het
Olfr433 T C 1: 174,042,480 F177L probably benign Het
Olfr729 C A 14: 50,148,774 M33I probably benign Het
Osbp C A 19: 11,977,829 Q282K probably benign Het
Osbpl2 A G 2: 180,148,463 S177G probably damaging Het
Pax1 A G 2: 147,366,255 H261R possibly damaging Het
Pcif1 A T 2: 164,886,727 L274F probably damaging Het
Pkhd1 A G 1: 20,117,825 S3420P probably benign Het
Prss3 A C 6: 41,377,627 probably benign Het
Ptk2b T C 14: 66,163,114 T751A possibly damaging Het
Pus10 T C 11: 23,673,239 V126A probably damaging Het
Rai14 A C 15: 10,587,916 D258E probably damaging Het
Rbp3 T C 14: 33,954,524 V143A possibly damaging Het
Sarm1 G A 11: 78,483,327 Q625* probably null Het
Scgb1b21 T G 7: 33,527,667 noncoding transcript Het
Scrn1 A T 6: 54,520,769 V279E probably damaging Het
Sipa1l2 T C 8: 125,421,895 T1670A probably damaging Het
Slc9a4 A T 1: 40,600,962 I305F probably benign Het
Smarcc1 A G 9: 110,213,617 T918A probably damaging Het
Tas2r109 A T 6: 132,980,426 H180Q probably benign Het
Tas2r121 G A 6: 132,700,230 R260* probably null Het
Tenm3 T C 8: 48,279,074 D1249G probably benign Het
Tgtp1 C G 11: 48,987,530 G116A probably damaging Het
Tial1 A G 7: 128,443,910 Y317H probably damaging Het
Trim66 A T 7: 109,455,080 W1308R probably damaging Het
Ulk2 T G 11: 61,783,545 K878N possibly damaging Het
Zfp41 T A 15: 75,618,291 S31T possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- GGACTTTGTTCTCCTCCAGATGCAC -3'
(R):5'- TCAACTACAGCGAGTTGCCCAC -3'

Sequencing Primer
(F):5'- GAGTTCGTCCAGCAGATCTC -3'
(R):5'- GGACCCATCTGGGATTGAG -3'
Posted On2014-04-24