Incidental Mutation 'IGL02670:Fam8a1'
ID 302904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam8a1
Ensembl Gene ENSMUSG00000069237
Gene Name family with sequence similarity 8, member A1
Synonyms C78339
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02670
Quality Score
Status
Chromosome 13
Chromosomal Location 46822998-46831532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46827080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 284 (M284V)
Ref Sequence ENSEMBL: ENSMUSP00000097144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099547]
AlphaFold Q3URQ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099547
AA Change: M284V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237
AA Change: M284V

DomainStartEndE-ValueType
low complexity region 31 56 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 168 190 N/A INTRINSIC
Pfam:RDD 229 389 2.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150376
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb1 T C 1: 91,474,640 (GRCm39) probably benign Het
Bltp1 C T 3: 37,021,454 (GRCm39) Q2193* probably null Het
Cnot6 G A 11: 49,575,941 (GRCm39) Q178* probably null Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Cyp27b1 T C 10: 126,886,227 (GRCm39) S303P probably benign Het
Dnah5 T C 15: 28,409,442 (GRCm39) L3620P probably damaging Het
Dock7 A T 4: 98,854,523 (GRCm39) probably null Het
Fam161b T C 12: 84,404,368 (GRCm39) D104G probably benign Het
Fkbp3 T A 12: 65,115,877 (GRCm39) K65* probably null Het
Gatb A G 3: 85,520,858 (GRCm39) probably null Het
Gm572 A T 4: 148,735,685 (GRCm39) H38L probably benign Het
Gm6576 A C 15: 27,025,598 (GRCm39) noncoding transcript Het
L2hgdh G A 12: 69,739,254 (GRCm39) R406W possibly damaging Het
Lmo7 A T 14: 102,118,416 (GRCm39) T214S probably damaging Het
Map3k12 T C 15: 102,411,981 (GRCm39) H361R probably benign Het
Mios T C 6: 8,235,378 (GRCm39) probably benign Het
Mta1 T C 12: 113,093,741 (GRCm39) L315P probably damaging Het
Pask A C 1: 93,238,540 (GRCm39) V1315G probably damaging Het
Pias4 A T 10: 80,999,904 (GRCm39) C50S probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sgk1 T A 10: 21,804,445 (GRCm39) C92S probably benign Het
Slc2a13 C T 15: 91,381,712 (GRCm39) G259E probably damaging Het
Slc5a4b A G 10: 75,910,934 (GRCm39) C301R probably damaging Het
Sstr4 G T 2: 148,238,453 (GRCm39) G355* probably null Het
Tnrc6a T A 7: 122,770,535 (GRCm39) L775Q possibly damaging Het
Vmn1r218 A G 13: 23,321,174 (GRCm39) I94V probably benign Het
Xpa A G 4: 46,185,682 (GRCm39) F99L probably benign Het
Other mutations in Fam8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Fam8a1 APN 13 46,827,147 (GRCm39) critical splice donor site probably null
IGL02067:Fam8a1 APN 13 46,823,324 (GRCm39) missense possibly damaging 0.49
R0626:Fam8a1 UTSW 13 46,824,699 (GRCm39) missense probably damaging 1.00
R4594:Fam8a1 UTSW 13 46,824,742 (GRCm39) missense probably damaging 1.00
R5155:Fam8a1 UTSW 13 46,827,038 (GRCm39) missense probably benign 0.34
R5652:Fam8a1 UTSW 13 46,827,814 (GRCm39) missense probably damaging 1.00
R5654:Fam8a1 UTSW 13 46,827,814 (GRCm39) missense probably damaging 1.00
R5655:Fam8a1 UTSW 13 46,827,814 (GRCm39) missense probably damaging 1.00
R6192:Fam8a1 UTSW 13 46,823,099 (GRCm39) missense probably damaging 1.00
R7637:Fam8a1 UTSW 13 46,824,723 (GRCm39) missense probably benign 0.02
R8345:Fam8a1 UTSW 13 46,827,054 (GRCm39) missense probably damaging 1.00
R8930:Fam8a1 UTSW 13 46,827,868 (GRCm39) missense probably benign 0.18
R8932:Fam8a1 UTSW 13 46,827,868 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16