Incidental Mutation 'IGL03056:Fam216b'
ID409229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam216b
Ensembl Gene ENSMUSG00000045655
Gene Namefamily with sequence similarity 216, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03056
Quality Score
Status
Chromosome14
Chromosomal Location78081021-78089007 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78082783 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 86 (H86Y)
Ref Sequence ENSEMBL: ENSMUSP00000113562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066437] [ENSMUST00000118785] [ENSMUST00000173826]
Predicted Effect probably benign
Transcript: ENSMUST00000066437
AA Change: H127Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000064524
Gene: ENSMUSG00000045655
AA Change: H127Y

DomainStartEndE-ValueType
Pfam:FAM216B 3 107 1.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118785
AA Change: H86Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113562
Gene: ENSMUSG00000045655
AA Change: H86Y

DomainStartEndE-ValueType
Pfam:FAM216B 1 67 3.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174283
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,670,903 H1118R probably damaging Het
Aff1 G A 5: 103,811,081 V339I probably damaging Het
Ank1 G T 8: 23,141,179 V107F probably damaging Het
Aox3 T C 1: 58,159,021 probably null Het
Cd160 T C 3: 96,805,811 T46A probably benign Het
Col20a1 A T 2: 180,994,889 Y221F probably damaging Het
Ddx18 C T 1: 121,564,535 A148T probably benign Het
Dennd5b A G 6: 149,055,072 M307T probably damaging Het
Fam166a T A 2: 25,221,355 M232K possibly damaging Het
Fh1 A T 1: 175,606,162 C374S probably damaging Het
Fkbp14 A G 6: 54,579,544 V207A probably benign Het
Gucy1a1 T C 3: 82,113,287 K101R probably benign Het
Kcnk2 G T 1: 189,295,711 Q116K possibly damaging Het
Kdm5b C A 1: 134,587,979 Q114K probably damaging Het
Kif12 C T 4: 63,166,956 R516Q probably null Het
Lca5l C T 16: 96,161,351 C463Y probably benign Het
Lgsn T A 1: 31,203,624 Y262* probably null Het
Lig4 A G 8: 9,972,580 I400T possibly damaging Het
Mink1 T A 11: 70,612,583 probably null Het
Mprip T A 11: 59,771,692 I2243N probably damaging Het
Myo1f A T 17: 33,585,600 Y426F probably damaging Het
Naip2 T A 13: 100,162,287 S414C possibly damaging Het
Nrg1 T C 8: 31,821,423 I363V possibly damaging Het
Olfr1278 A T 2: 111,293,172 R301S possibly damaging Het
Olfr582 A T 7: 103,041,751 I86L possibly damaging Het
Serpinb9d T C 13: 33,202,753 V268A probably damaging Het
Slc15a1 A G 14: 121,491,283 F17L possibly damaging Het
Slc9a3 T A 13: 74,150,819 V119E probably damaging Het
Sspo T A 6: 48,470,538 M2346K probably benign Het
Tcf4 G T 18: 69,651,212 probably benign Het
Trabd2b T C 4: 114,409,338 V183A probably damaging Het
Ust T C 10: 8,207,562 H350R probably benign Het
Zfp952 T A 17: 33,002,766 V35E probably damaging Het
Other mutations in Fam216b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0594:Fam216b UTSW 14 78086674 missense possibly damaging 0.92
R5389:Fam216b UTSW 14 78085063 missense possibly damaging 0.71
R7206:Fam216b UTSW 14 78085127 missense probably damaging 0.99
R8178:Fam216b UTSW 14 78085064 missense possibly damaging 0.60
Posted On2016-08-02