Incidental Mutation 'IGL00792:Fam219a'
ID 13465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam219a
Ensembl Gene ENSMUSG00000028439
Gene Name family with sequence similarity 219, member A
Synonyms 2310028H24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL00792
Quality Score
Status
Chromosome 4
Chromosomal Location 41517691-41569538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41521684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000103687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]
AlphaFold Q9D772
Predicted Effect probably benign
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108049
AA Change: V63A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
AA Change: V63A

DomainStartEndE-ValueType
Pfam:FAM219A 26 157 2.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108050
AA Change: V63A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
AA Change: V63A

DomainStartEndE-ValueType
Pfam:FAM219A 26 156 8.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108052
AA Change: V74A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: V74A

DomainStartEndE-ValueType
Pfam:FAM219A 37 168 1.6e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,228,790 (GRCm39) I346V probably benign Het
Actl7a A T 4: 56,743,944 (GRCm39) Y157F possibly damaging Het
Adcy9 A G 16: 4,106,403 (GRCm39) F904L probably damaging Het
Ap1m1 A G 8: 73,009,599 (GRCm39) D369G possibly damaging Het
Atp23 A T 10: 126,736,969 (GRCm39) probably null Het
Atp5pd A G 11: 115,308,675 (GRCm39) probably null Het
Btf3l4 G A 4: 108,674,056 (GRCm39) S153L probably benign Het
Carf G T 1: 60,165,168 (GRCm39) V117L possibly damaging Het
Cntnap1 C A 11: 101,069,792 (GRCm39) N290K probably benign Het
Dgkb G A 12: 38,264,388 (GRCm39) probably null Het
Dmbt1 T A 7: 130,699,337 (GRCm39) C989S possibly damaging Het
Epb41l1 C T 2: 156,366,939 (GRCm39) R591C probably damaging Het
Frrs1 T A 3: 116,678,944 (GRCm39) probably null Het
Gm13547 A T 2: 29,653,417 (GRCm39) D85V probably damaging Het
Hipk1 G T 3: 103,685,476 (GRCm39) S46R possibly damaging Het
Ifih1 T A 2: 62,476,214 (GRCm39) R21W probably damaging Het
Ift43 A T 12: 86,186,840 (GRCm39) Q87L probably null Het
Itprid2 C T 2: 79,487,807 (GRCm39) A630V probably benign Het
Kcnn1 G A 8: 71,307,360 (GRCm39) L178F probably benign Het
Kel G T 6: 41,678,946 (GRCm39) N172K probably damaging Het
Krtap3-2 A T 11: 99,447,372 (GRCm39) Y85* probably null Het
Lrrc49 A G 9: 60,595,121 (GRCm39) S8P probably damaging Het
Med23 T C 10: 24,752,902 (GRCm39) I20T possibly damaging Het
Pde4d A G 13: 110,071,929 (GRCm39) K364E possibly damaging Het
Ppp2r3d T C 9: 101,088,500 (GRCm39) K608E possibly damaging Het
Robo4 C T 9: 37,319,507 (GRCm39) L586F probably damaging Het
Rprd2 A G 3: 95,692,416 (GRCm39) S191P probably benign Het
Samhd1 A T 2: 156,962,468 (GRCm39) H242Q probably damaging Het
Slc30a9 T A 5: 67,499,452 (GRCm39) N283K probably damaging Het
Slc4a9 T C 18: 36,672,649 (GRCm39) probably benign Het
Stk36 G T 1: 74,650,276 (GRCm39) L269F probably benign Het
Thop1 T A 10: 80,914,433 (GRCm39) L240* probably null Het
Tmem52b T A 6: 129,493,704 (GRCm39) S106T probably damaging Het
Ttn T A 2: 76,555,970 (GRCm39) D30345V probably damaging Het
Vtcn1 T C 3: 100,795,663 (GRCm39) V210A probably damaging Het
Zfp568 A G 7: 29,714,497 (GRCm39) R124G probably benign Het
Other mutations in Fam219a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0607:Fam219a UTSW 4 41,520,242 (GRCm39) makesense probably null
R4362:Fam219a UTSW 4 41,518,844 (GRCm39) utr 3 prime probably benign
R4659:Fam219a UTSW 4 41,521,645 (GRCm39) missense probably null 0.56
R5438:Fam219a UTSW 4 41,520,302 (GRCm39) missense probably damaging 0.98
R7025:Fam219a UTSW 4 41,521,925 (GRCm39) missense probably benign 0.07
R7563:Fam219a UTSW 4 41,569,208 (GRCm39) missense probably benign
R8389:Fam219a UTSW 4 41,520,935 (GRCm39) missense probably damaging 1.00
R8701:Fam219a UTSW 4 41,520,283 (GRCm39) missense probably damaging 0.99
R9109:Fam219a UTSW 4 41,521,870 (GRCm39) missense probably damaging 1.00
R9289:Fam219a UTSW 4 41,521,942 (GRCm39) missense probably damaging 1.00
R9456:Fam219a UTSW 4 41,521,871 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06