Incidental Mutation 'R5711:Fam220a'
ID 452213
Institutional Source Beutler Lab
Gene Symbol Fam220a
Ensembl Gene ENSMUSG00000083012
Gene Name family with sequence similarity 220, member A
Synonyms 1500026F15Rik, 2810453I06Rik
MMRRC Submission 043185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5711 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143534475-143550286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143549212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 208 (E208V)
Ref Sequence ENSEMBL: ENSMUSP00000142548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067145] [ENSMUST00000101434] [ENSMUST00000119488] [ENSMUST00000169329] [ENSMUST00000196487] [ENSMUST00000200267]
AlphaFold Q3ZN08
Predicted Effect probably damaging
Transcript: ENSMUST00000067145
AA Change: E208V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063424
Gene: ENSMUSG00000083012
AA Change: E208V

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 probably damaging
Transcript: ENSMUST00000169329
AA Change: E208V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126480
Gene: ENSMUSG00000083012
AA Change: E208V

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196487
AA Change: E208V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143202
Gene: ENSMUSG00000083012
AA Change: E208V

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200267
AA Change: E208V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142548
Gene: ENSMUSG00000083012
AA Change: E208V

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak6 A T 13: 100,790,722 (GRCm39) T18S probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap19 A G 19: 41,773,227 (GRCm39) V275A possibly damaging Het
Cebpz T A 17: 79,242,040 (GRCm39) Q538L probably damaging Het
Chgb A T 2: 132,634,618 (GRCm39) I187F probably benign Het
Cldn1 C A 16: 26,190,167 (GRCm39) L70F probably damaging Het
Crybg2 A T 4: 133,809,938 (GRCm39) D1230V probably damaging Het
Csmd1 C T 8: 16,003,703 (GRCm39) C2617Y probably damaging Het
D7Ertd443e T A 7: 133,951,110 (GRCm39) N188Y probably benign Het
Ddx51 A G 5: 110,802,790 (GRCm39) I214M probably benign Het
Dlg5 A G 14: 24,200,716 (GRCm39) V1328A probably damaging Het
Dnah2 C T 11: 69,326,216 (GRCm39) C3639Y probably damaging Het
Dync1i2 C T 2: 71,081,326 (GRCm39) T511I probably benign Het
Gm4846 T C 1: 166,311,594 (GRCm39) S422G probably benign Het
Grin2c C T 11: 115,141,115 (GRCm39) R1001Q probably benign Het
H2-T3 T C 17: 36,498,301 (GRCm39) E248G probably damaging Het
Idi2 T C 13: 9,008,518 (GRCm39) V92A probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Klhl26 T C 8: 70,904,974 (GRCm39) D278G probably damaging Het
Mok G T 12: 110,774,503 (GRCm39) T228K probably damaging Het
Or1e22 A G 11: 73,377,008 (GRCm39) I214T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pabpc1 T C 15: 36,606,074 (GRCm39) I101V probably benign Het
Ppargc1a G T 5: 51,631,562 (GRCm39) Q356K probably damaging Het
Ptprt T A 2: 161,652,524 (GRCm39) D608V probably damaging Het
Rxfp1 C T 3: 79,586,054 (GRCm39) C96Y probably damaging Het
Scn11a A C 9: 119,618,990 (GRCm39) V784G probably damaging Het
Septin4 T C 11: 87,458,723 (GRCm39) S366P probably benign Het
Slc12a8 A G 16: 33,410,679 (GRCm39) Y226C probably damaging Het
Slc25a33 A G 4: 149,846,914 (GRCm39) V49A possibly damaging Het
Slc25a45 T C 19: 5,934,451 (GRCm39) S140P probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Spty2d1 G T 7: 46,647,845 (GRCm39) N361K possibly damaging Het
Stk4 G A 2: 163,941,674 (GRCm39) A297T probably benign Het
Thsd7b T A 1: 129,688,139 (GRCm39) N683K probably damaging Het
Tln2 T C 9: 67,299,829 (GRCm39) E141G probably benign Het
Tmem125 A T 4: 118,399,216 (GRCm39) C72S probably damaging Het
Ttn G T 2: 76,572,437 (GRCm39) T26152K probably damaging Het
Uhrf1 G A 17: 56,627,259 (GRCm39) G643D possibly damaging Het
Vmn2r50 C T 7: 9,774,299 (GRCm39) M532I possibly damaging Het
Other mutations in Fam220a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02266:Fam220a APN 5 143,549,326 (GRCm39) missense possibly damaging 0.51
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
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
Predicted Primers PCR Primer
(F):5'- ACTAGGAAGTGACTGGCCAG -3'
(R):5'- TTGAACCTTAACTATGGCATCAGAG -3'

Sequencing Primer
(F):5'- CCGTGGACAGTACCTCAAAGG -3'
(R):5'- GGCATCAGAGACTTGCTAATCTG -3'
Posted On 2017-01-03