Incidental Mutation 'IGL01138:Fam84b'
ID52853
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: 0.073) question?
Stock #IGL01138
Quality Score
Status
Chromosome15
Chromosomal Location60818994-60853778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60823118 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 260 (I260F)
Ref Sequence ENSEMBL: ENSMUSP00000098200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100635]
Predicted Effect probably damaging
Transcript: ENSMUST00000100635
AA Change: I260F

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098200
Gene: ENSMUSG00000072568
AA Change: I260F

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Abcg5 T A 17: 84,664,847 R499S possibly damaging Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Guca1a C A 17: 47,400,384 E12D probably damaging Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Pnmal2 C A 7: 16,945,163 T24K unknown Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Serpina5 A G 12: 104,103,744 Y300C possibly damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Sos2 C T 12: 69,616,849 probably benign Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Fam84b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Fam84b APN 15 60823453 missense probably damaging 0.99
IGL02588:Fam84b APN 15 60823150 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 On2013-06-21