Incidental Mutation 'IGL02588:Fam84b'
ID299631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam84b
Ensembl Gene ENSMUSG00000072568
Gene Namefamily with sequence similarity 84, member B
SynonymsD330050I23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02588
Quality Score
Status
Chromosome15
Chromosomal Location60818994-60853778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60823150 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 249 (D249G)
Ref Sequence ENSEMBL: ENSMUSP00000098200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100635]
Predicted Effect probably damaging
Transcript: ENSMUST00000100635
AA Change: D249G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098200
Gene: ENSMUSG00000072568
AA Change: D249G

DomainStartEndE-ValueType
low complexity region 47 52 N/A INTRINSIC
low complexity region 53 78 N/A INTRINSIC
Pfam:LRAT 114 163 3.6e-9 PFAM
Pfam:LRAT 147 214 2.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192865
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Fam84b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Fam84b APN 15 60823118 missense probably damaging 0.97
IGL02072:Fam84b APN 15 60823453 missense probably damaging 0.99
IGL02823:Fam84b APN 15 60823123 missense probably damaging 0.97
R0095:Fam84b UTSW 15 60823576 missense probably damaging 1.00
R0276:Fam84b UTSW 15 60823674 nonsense probably null
R0285:Fam84b UTSW 15 60822967 missense probably benign 0.02
R1538:Fam84b UTSW 15 60823649 missense probably damaging 1.00
R3162:Fam84b UTSW 15 60823447 missense probably damaging 1.00
R4664:Fam84b UTSW 15 60823629 missense probably benign 0.00
R4801:Fam84b UTSW 15 60823944 start gained probably benign
R4802:Fam84b UTSW 15 60823944 start gained probably benign
R6125:Fam84b UTSW 15 60823297 missense probably damaging 1.00
R6254:Fam84b UTSW 15 60823801 missense probably damaging 1.00
R6950:Fam84b UTSW 15 60823714 missense probably benign 0.01
R6957:Fam84b UTSW 15 60823085 missense probably benign
Posted On2015-04-16