Incidental Mutation 'IGL02823:Fam84b'
ID361107
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: 0.065) question?
Stock #IGL02823
Quality Score
Status
Chromosome15
Chromosomal Location60818994-60853778 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60823123 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 258 (D258G)
Ref Sequence ENSEMBL: ENSMUSP00000098200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100635]
Predicted Effect probably damaging
Transcript: ENSMUST00000100635
AA Change: D258G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098200
Gene: ENSMUSG00000072568
AA Change: D258G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,261,955 S194P probably damaging Het
3110043O21Rik A T 4: 35,213,031 C215S probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Grxcr2 T C 18: 41,991,981 K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Prob1 A T 18: 35,652,747 V818E possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Srebf2 G A 15: 82,199,774 G965D possibly damaging Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign 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
IGL02588:Fam84b APN 15 60823150 missense probably damaging 0.99
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 On2015-12-18