Incidental Mutation 'IGL02266:Fam220a'
ID 286889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam220a
Ensembl Gene ENSMUSG00000083012
Gene Name family with sequence similarity 220, member A
Synonyms 1500026F15Rik, 2810453I06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02266
Quality Score
Status
Chromosome 5
Chromosomal Location 143534475-143550286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143549326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 246 (V246A)
Ref Sequence ENSEMBL: ENSMUSP00000142548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067145] [ENSMUST00000101434] [ENSMUST00000119488] [ENSMUST00000169329] [ENSMUST00000196487] [ENSMUST00000200267]
AlphaFold Q3ZN08
Predicted Effect possibly damaging
Transcript: ENSMUST00000067145
AA Change: V246A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063424
Gene: ENSMUSG00000083012
AA Change: V246A

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101434
SMART Domains Protein: ENSMUSP00000117552
Gene: ENSMUSG00000083012

DomainStartEndE-ValueType
Pfam:DUF4560 2 65 8.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119488
SMART Domains Protein: ENSMUSP00000114024
Gene: ENSMUSG00000083012

DomainStartEndE-ValueType
Pfam:DUF4560 2 65 1.6e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169329
AA Change: V246A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126480
Gene: ENSMUSG00000083012
AA Change: V246A

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196487
AA Change: V246A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143202
Gene: ENSMUSG00000083012
AA Change: V246A

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200267
AA Change: V246A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142548
Gene: ENSMUSG00000083012
AA Change: V246A

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,307,360 (GRCm39) Q1974* probably null Het
Actl11 G T 9: 107,808,382 (GRCm39) V902L possibly damaging Het
Adam11 T C 11: 102,663,493 (GRCm39) V274A probably damaging Het
Akr1b8 A G 6: 34,331,208 (GRCm39) I15V probably benign Het
Chrm3 T A 13: 9,927,314 (GRCm39) Q574L probably damaging Het
Ciao3 T A 17: 25,999,300 (GRCm39) I238N possibly damaging Het
Crk C A 11: 75,570,415 (GRCm39) R16S probably damaging Het
Ep400 T C 5: 110,843,163 (GRCm39) probably benign Het
Eya1 T C 1: 14,254,725 (GRCm39) N369S possibly damaging Het
Fastkd5 A T 2: 130,457,481 (GRCm39) F370I probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gpr75 A C 11: 30,841,977 (GRCm39) Q294P probably benign Het
Hspg2 T C 4: 137,237,888 (GRCm39) F204L probably damaging Het
Lrrc8c A C 5: 105,756,114 (GRCm39) I630L probably benign Het
Nlrc4 T C 17: 74,753,162 (GRCm39) D407G possibly damaging Het
Or4f61 G A 2: 111,922,588 (GRCm39) L153F probably benign Het
Or8k22 T A 2: 86,163,323 (GRCm39) I126F probably damaging Het
Pank1 A C 19: 34,791,086 (GRCm39) probably benign Het
Pde3b A G 7: 114,126,201 (GRCm39) T812A probably damaging Het
Phtf2 T G 5: 21,010,797 (GRCm39) K63Q probably damaging Het
Pkhd1l1 A T 15: 44,437,010 (GRCm39) H3456L probably damaging Het
Plcd1 A G 9: 118,903,855 (GRCm39) probably benign Het
Ppip5k2 C T 1: 97,661,697 (GRCm39) V734I possibly damaging Het
Ppp2r2d A G 7: 138,470,166 (GRCm39) N38S probably damaging Het
Rnpepl1 T A 1: 92,844,611 (GRCm39) W368R probably damaging Het
Sidt1 T C 16: 44,075,348 (GRCm39) D670G possibly damaging Het
Slc12a2 T A 18: 58,045,092 (GRCm39) probably benign Het
Tekt5 A T 16: 10,196,906 (GRCm39) I315N probably benign Het
Trappc11 A C 8: 47,958,766 (GRCm39) C42G probably damaging Het
Trerf1 C T 17: 47,626,331 (GRCm39) noncoding transcript Het
Ubqlnl C A 7: 103,798,754 (GRCm39) E248* probably null Het
Ulk4 G T 9: 120,910,766 (GRCm39) T1086K probably benign Het
Unc45a A T 7: 79,978,234 (GRCm39) D680E probably damaging Het
Vmn2r107 T C 17: 20,577,039 (GRCm39) Y346H probably damaging Het
Vmn2r73 A G 7: 85,525,007 (GRCm39) I47T possibly damaging Het
Zbtb9 T C 17: 27,193,129 (GRCm39) V178A probably benign Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zfp608 T C 18: 55,030,653 (GRCm39) T1096A probably benign Het
Other mutations in Fam220a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1978:Fam220a UTSW 5 143,548,882 (GRCm39) missense probably damaging 1.00
R4260:Fam220a UTSW 5 143,548,762 (GRCm39) missense possibly damaging 0.64
R5711:Fam220a UTSW 5 143,549,212 (GRCm39) missense probably damaging 0.98
R6086:Fam220a UTSW 5 143,548,796 (GRCm39) missense probably benign 0.12
R7466:Fam220a UTSW 5 143,549,226 (GRCm39) missense possibly damaging 0.93
R7823:Fam220a UTSW 5 143,549,011 (GRCm39) missense probably damaging 0.99
R8425:Fam220a UTSW 5 143,548,594 (GRCm39) missense possibly damaging 0.53
R8900:Fam220a UTSW 5 143,549,228 (GRCm39) nonsense probably null
X0013:Fam220a UTSW 5 143,549,268 (GRCm39) missense probably benign 0.27
Posted On 2015-04-16