Incidental Mutation 'IGL02478:Fam184b'
ID295039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam184b
Ensembl Gene ENSMUSG00000015879
Gene Namefamily with sequence similarity 184, member B
Synonyms9630031F12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02478
Quality Score
Status
Chromosome5
Chromosomal Location45529705-45639614 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45537697 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 735 (E735G)
Ref Sequence ENSEMBL: ENSMUSP00000016023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016023]
Predicted Effect probably damaging
Transcript: ENSMUST00000016023
AA Change: E735G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016023
Gene: ENSMUSG00000015879
AA Change: E735G

DomainStartEndE-ValueType
Pfam:FAM184 50 248 7.7e-28 PFAM
coiled coil region 284 337 N/A INTRINSIC
coiled coil region 387 495 N/A INTRINSIC
low complexity region 515 525 N/A INTRINSIC
coiled coil region 575 620 N/A INTRINSIC
coiled coil region 686 775 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199190
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,806,018 A42E probably damaging Het
Agmo T A 12: 37,401,986 F247L probably damaging Het
Arap1 C A 7: 101,400,125 probably null Het
Arid1a T C 4: 133,681,274 D1974G unknown Het
Asxl3 C T 18: 22,523,013 A1360V possibly damaging Het
Celsr1 T A 15: 85,941,136 T1599S possibly damaging Het
Chrdl2 T C 7: 100,020,983 probably null Het
Csmd3 T C 15: 47,838,398 probably benign Het
Dis3l C T 9: 64,314,773 E452K probably benign Het
Dnajc2 A T 5: 21,776,790 H45Q probably damaging Het
Eps8 G A 6: 137,522,842 P213L probably benign Het
Erbb3 T A 10: 128,571,358 R978* probably null Het
Exoc2 A T 13: 30,927,420 C142S probably benign Het
Fam208b T C 13: 3,574,661 E1763G probably benign Het
Fancm T C 12: 65,077,090 V174A probably damaging Het
Fat4 T C 3: 38,888,215 L419P probably damaging Het
Fsip2 G T 2: 82,984,392 V3490L probably benign Het
Ftcd A T 10: 76,581,421 R255* probably null Het
Galc T C 12: 98,213,132 N506S possibly damaging Het
Gm20441 G T 10: 75,772,810 A26E probably damaging Het
Gm21969 T G 4: 139,640,688 probably null Het
Hspb11 T A 4: 107,275,252 S79T probably benign Het
Ifitm3 T A 7: 141,009,874 M89L possibly damaging Het
Inmt T C 6: 55,173,370 E94G probably damaging Het
Insrr G A 3: 87,809,412 G649D probably benign Het
Ivd T C 2: 118,862,091 L24P probably benign Het
Kcnc1 A G 7: 46,435,169 N506D probably benign Het
Krt39 T A 11: 99,520,897 D121V probably benign Het
Lcp1 A G 14: 75,224,096 I510V probably benign Het
Mkx C T 18: 7,002,418 V43M probably damaging Het
Mmp2 A G 8: 92,852,607 N108S possibly damaging Het
Mob1b T C 5: 88,756,088 probably benign Het
Morc3 A G 16: 93,864,956 probably benign Het
Myh13 T G 11: 67,369,378 S1881A probably benign Het
Nalcn T C 14: 123,321,305 E843G probably benign Het
Ngef A G 1: 87,480,579 probably benign Het
Olfr293 T A 7: 86,664,136 I158N probably damaging Het
Osm A G 11: 4,239,507 Y97C probably damaging Het
Pclo T A 5: 14,766,778 L4556Q unknown Het
Pcyox1l T C 18: 61,697,709 D364G probably benign Het
Plekha6 T A 1: 133,283,293 V467E probably benign Het
Qrsl1 A T 10: 43,882,162 S312T probably damaging Het
Ripk1 T A 13: 34,010,589 L70Q probably damaging Het
Rnaseh1 A T 12: 28,655,663 Y162F probably damaging Het
Ror2 T A 13: 53,121,667 T195S probably damaging Het
Sh3bp2 T C 5: 34,551,662 L33P probably damaging Het
Skil T A 3: 31,097,819 C163* probably null Het
Slc25a37 A T 14: 69,249,434 N133K probably benign Het
Slitrk3 A C 3: 73,050,713 V242G probably damaging Het
Sra1 A G 18: 36,668,792 S82P probably benign Het
Synj2 A G 17: 6,037,924 N1417D probably benign Het
Tas2r122 A G 6: 132,711,615 V105A possibly damaging Het
Ttc21b T C 2: 66,188,280 N1261S probably benign Het
Vmn2r69 A G 7: 85,406,681 S750P probably damaging Het
Wdr95 A G 5: 149,596,321 T568A probably benign Het
Zfp319 T A 8: 95,329,093 I161F possibly damaging Het
Other mutations in Fam184b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Fam184b APN 5 45539749 missense probably benign 0.17
IGL00781:Fam184b APN 5 45555192 splice site probably null
IGL01636:Fam184b APN 5 45584295 missense probably benign 0.00
IGL02008:Fam184b APN 5 45532823 missense possibly damaging 0.75
IGL02123:Fam184b APN 5 45639151 missense possibly damaging 0.92
IGL02177:Fam184b APN 5 45532815 nonsense probably null
IGL02192:Fam184b APN 5 45537720 missense probably benign 0.00
IGL03368:Fam184b APN 5 45531824 missense possibly damaging 0.91
R0003:Fam184b UTSW 5 45555194 splice site probably benign
R0129:Fam184b UTSW 5 45532778 missense probably damaging 1.00
R0420:Fam184b UTSW 5 45584512 missense probably damaging 1.00
R0647:Fam184b UTSW 5 45584590 missense probably benign
R1215:Fam184b UTSW 5 45584178 missense probably damaging 1.00
R1374:Fam184b UTSW 5 45555143 missense probably benign
R1466:Fam184b UTSW 5 45580509 splice site probably benign
R1773:Fam184b UTSW 5 45584334 missense possibly damaging 0.60
R1865:Fam184b UTSW 5 45531889 missense possibly damaging 0.91
R3615:Fam184b UTSW 5 45582815 missense possibly damaging 0.56
R3616:Fam184b UTSW 5 45582815 missense possibly damaging 0.56
R4180:Fam184b UTSW 5 45539764 missense probably benign 0.00
R4375:Fam184b UTSW 5 45542343 missense probably benign
R4674:Fam184b UTSW 5 45582888 nonsense probably null
R4942:Fam184b UTSW 5 45573307 missense probably damaging 0.97
R5021:Fam184b UTSW 5 45573262 missense probably benign 0.01
R5450:Fam184b UTSW 5 45539801 missense probably benign
R5731:Fam184b UTSW 5 45553129 missense probably benign 0.00
R5858:Fam184b UTSW 5 45639119 missense probably damaging 0.99
R6032:Fam184b UTSW 5 45582896 missense probably benign 0.01
R6032:Fam184b UTSW 5 45582896 missense probably benign 0.01
R6060:Fam184b UTSW 5 45553147 missense probably damaging 0.99
R6088:Fam184b UTSW 5 45584012 missense probably damaging 1.00
R6416:Fam184b UTSW 5 45537653 missense probably benign 0.04
R6932:Fam184b UTSW 5 45532901 intron probably null
R6956:Fam184b UTSW 5 45530757 missense probably damaging 0.97
R6965:Fam184b UTSW 5 45555135 missense probably benign
Posted On2015-04-16