Incidental Mutation 'R4260:Fam220a'
ID 322603
Institutional Source Beutler Lab
Gene Symbol Fam220a
Ensembl Gene ENSMUSG00000083012
Gene Name family with sequence similarity 220, member A
Synonyms 1500026F15Rik, 2810453I06Rik
MMRRC Submission 041073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4260 (G1)
Quality Score 118
Status Validated
Chromosome 5
Chromosomal Location 143534475-143550286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 143548762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 58 (R58P)
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: R58P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063424
Gene: ENSMUSG00000083012
AA Change: R58P

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: R58P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126480
Gene: ENSMUSG00000083012
AA Change: R58P

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196487
AA Change: R58P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143202
Gene: ENSMUSG00000083012
AA Change: R58P

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200267
AA Change: R58P

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142548
Gene: ENSMUSG00000083012
AA Change: R58P

DomainStartEndE-ValueType
Pfam:FAM220 2 259 1.8e-82 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G A 18: 80,180,742 (GRCm39) S52L possibly damaging Het
Best3 A T 10: 116,860,131 (GRCm39) M464L probably benign Het
Ccdc83 T G 7: 89,877,599 (GRCm39) D281A possibly damaging Het
Ccnf G A 17: 24,445,741 (GRCm39) P502S probably damaging Het
Cd109 T A 9: 78,543,745 (GRCm39) S96R possibly damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cntnap5a G T 1: 116,374,325 (GRCm39) A946S probably benign Het
Csnk2a2 A T 8: 96,184,027 (GRCm39) D177E probably benign Het
Cyld T C 8: 89,468,019 (GRCm39) S551P probably damaging Het
Degs1 A T 1: 182,106,806 (GRCm39) I151N probably benign Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Eif2ak3 G A 6: 70,866,497 (GRCm39) R597H probably damaging Het
Epg5 A T 18: 78,002,336 (GRCm39) H585L possibly damaging Het
Epg5 G C 18: 78,058,914 (GRCm39) W1889C probably damaging Het
Gemin5 G A 11: 58,059,185 (GRCm39) A32V probably damaging Het
Gm11189 A C 11: 53,091,703 (GRCm39) noncoding transcript Het
Grb2 A G 11: 115,540,642 (GRCm39) I85T probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kel A T 6: 41,663,357 (GRCm39) probably benign Het
Kifap3 C A 1: 163,689,597 (GRCm39) T527K probably damaging Het
Klra10 A G 6: 130,249,644 (GRCm39) W214R probably damaging Het
Luc7l3 A T 11: 94,186,876 (GRCm39) probably benign Het
Mrpl4 A G 9: 20,918,988 (GRCm39) E211G possibly damaging Het
Or4k39 T A 2: 111,238,850 (GRCm39) noncoding transcript Het
Or52n5 A C 7: 104,587,803 (GRCm39) E23D probably damaging Het
Pbld2 T C 10: 62,860,186 (GRCm39) probably benign Het
Plcg1 T C 2: 160,593,627 (GRCm39) probably null Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ptpdc1 A G 13: 48,733,234 (GRCm39) M802T probably benign Het
Ptprf A G 4: 118,083,280 (GRCm39) F909S possibly damaging Het
Raph1 A T 1: 60,542,124 (GRCm39) M330K possibly damaging Het
Rprd1a G A 18: 24,621,352 (GRCm39) R276C possibly damaging Het
Scg3 A G 9: 75,558,979 (GRCm39) Y406H probably damaging Het
Setdb1 G A 3: 95,234,808 (GRCm39) S965F probably damaging Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Spata17 T A 1: 186,780,677 (GRCm39) T357S possibly damaging Het
Tmt1a A G 15: 100,210,951 (GRCm39) D141G probably benign Het
Zap70 T A 1: 36,818,189 (GRCm39) probably benign Het
Zfp985 G A 4: 147,668,029 (GRCm39) C299Y probably 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
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
Predicted Primers PCR Primer
(F):5'- TTGACTGATAGGCCTCACCC -3'
(R):5'- GCTAGTTGCTCTTCTGAAGGAGC -3'

Sequencing Primer
(F):5'- CCTGCATCAAAGGGCACAGAG -3'
(R):5'- CTCTTCTGAAGGAGCAGGGGAC -3'
Posted On 2015-06-20