Incidental Mutation 'IGL01881:Fam216a'
ID 179032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam216a
Ensembl Gene ENSMUSG00000029463
Gene Name family with sequence similarity 216, member A
Synonyms 1500011H22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01881
Quality Score
Status
Chromosome 5
Chromosomal Location 122502647-122510405 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122505698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 114 (Y114H)
Ref Sequence ENSEMBL: ENSMUSP00000031419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000031420] [ENSMUST00000111729] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000127608] [ENSMUST00000155671]
AlphaFold Q9DB54
Predicted Effect probably damaging
Transcript: ENSMUST00000031419
AA Change: Y114H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463
AA Change: Y114H

DomainStartEndE-ValueType
Pfam:FAM216B 50 160 6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031420
SMART Domains Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 254 5.5e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111729
SMART Domains Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118765
SMART Domains Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
PDB:1W24|A 1 65 7e-42 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000118830
SMART Domains Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
Pfam:Metallophos_2 6 162 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127608
SMART Domains Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464

DomainStartEndE-ValueType
Pfam:ATP_bind_1 8 189 1.2e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156978
Predicted Effect probably benign
Transcript: ENSMUST00000155671
SMART Domains Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
Pfam:Metallophos_2 1 158 3.4e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl A T 5: 130,047,379 (GRCm39) probably benign Het
Cd3g A T 9: 44,882,566 (GRCm39) Y160N probably damaging Het
Exoc8 T A 8: 125,623,090 (GRCm39) R426W probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3402 A T 5: 146,451,408 (GRCm39) I89F possibly damaging Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Mterf4 A G 1: 93,232,363 (GRCm39) S163P probably damaging Het
Myo7b G A 18: 32,133,320 (GRCm39) probably benign Het
Pde6b A T 5: 108,569,366 (GRCm39) M358L probably benign Het
Ppp1cb A G 5: 32,635,487 (GRCm39) I44V probably benign Het
Slitrk3 T C 3: 72,956,639 (GRCm39) E711G probably benign Het
Trappc9 A T 15: 72,871,841 (GRCm39) L492Q probably damaging Het
Tulp2 C T 7: 45,170,219 (GRCm39) R297W probably damaging Het
Other mutations in Fam216a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02389:Fam216a APN 5 122,505,574 (GRCm39) missense probably damaging 0.99
R0487:Fam216a UTSW 5 122,508,576 (GRCm39) critical splice donor site probably null
R0690:Fam216a UTSW 5 122,505,709 (GRCm39) missense probably damaging 1.00
R5190:Fam216a UTSW 5 122,505,584 (GRCm39) critical splice acceptor site probably null
R7084:Fam216a UTSW 5 122,507,623 (GRCm39) missense probably benign 0.31
R7651:Fam216a UTSW 5 122,505,445 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07