Incidental Mutation 'R5362:Fam221a'
ID 422866
Institutional Source Beutler Lab
Gene Symbol Fam221a
Ensembl Gene ENSMUSG00000047115
Gene Name family with sequence similarity 221, member A
Synonyms D330028D13Rik
MMRRC Submission 043264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5362 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 49344673-49367473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49353049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 21 (H21R)
Ref Sequence ENSEMBL: ENSMUSP00000114554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060561] [ENSMUST00000121903] [ENSMUST00000134786]
AlphaFold Q8C790
Predicted Effect probably damaging
Transcript: ENSMUST00000060561
AA Change: H84R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050237
Gene: ENSMUSG00000047115
AA Change: H84R

DomainStartEndE-ValueType
Pfam:DUF4475 20 214 2.6e-100 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121903
AA Change: H84R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113242
Gene: ENSMUSG00000047115
AA Change: H84R

DomainStartEndE-ValueType
Pfam:DUF4475 20 216 9.7e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134786
AA Change: H21R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114554
Gene: ENSMUSG00000047115
AA Change: H21R

DomainStartEndE-ValueType
Pfam:DUF4475 1 63 4.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142950
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A T 6: 133,271,445 (GRCm39) D163V probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd17 G A 5: 90,413,404 (GRCm39) A1170V probably damaging Het
Ano1 A C 7: 144,202,337 (GRCm39) probably benign Het
Atl2 T C 17: 80,168,890 (GRCm39) N37D probably damaging Het
C2cd5 T C 6: 143,028,969 (GRCm39) Y90C probably damaging Het
Carm1 A G 9: 21,498,655 (GRCm39) N499S probably benign Het
Ccdc47 G A 11: 106,099,039 (GRCm39) probably null Het
Cd300lf G T 11: 115,007,940 (GRCm39) L251M probably damaging Het
Cfap74 A G 4: 155,522,623 (GRCm39) S670G probably damaging Het
Clec4a1 A G 6: 122,909,196 (GRCm39) D188G probably damaging Het
Col4a1 T C 8: 11,295,760 (GRCm39) probably benign Het
Csn2 T A 5: 87,842,508 (GRCm39) H165L probably benign Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dlx3 T C 11: 95,011,326 (GRCm39) V60A possibly damaging Het
Elp1 A C 4: 56,778,969 (GRCm39) I616S probably damaging Het
Foxj3 T A 4: 119,477,340 (GRCm39) H349Q unknown Het
Gm37240 G A 3: 84,423,000 (GRCm39) T123I probably damaging Het
Gpc1 A T 1: 92,782,615 (GRCm39) T121S probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Itga2b A G 11: 102,351,961 (GRCm39) V512A probably damaging Het
Itgae A G 11: 73,002,675 (GRCm39) Y144C probably damaging Het
Izumo3 A T 4: 92,035,037 (GRCm39) I60K possibly damaging Het
Kif9 G A 9: 110,319,012 (GRCm39) V159M probably damaging Het
Lrp1b T C 2: 41,265,914 (GRCm39) D229G probably damaging Het
Nkpd1 G A 7: 19,257,193 (GRCm39) G324D probably damaging Het
Nrp2 T A 1: 62,808,221 (GRCm39) Y617N probably benign Het
Ocm T C 5: 143,960,674 (GRCm39) D91G probably damaging Het
Or4l15 A G 14: 50,197,986 (GRCm39) L181P possibly damaging Het
Or52ad1 A G 7: 102,995,454 (GRCm39) V227A probably damaging Het
Or52n2b A G 7: 104,565,834 (GRCm39) I223T probably damaging Het
Or6c70 T C 10: 129,710,422 (GRCm39) E68G probably damaging Het
Pex5l G A 3: 33,047,065 (GRCm39) A295V probably damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Pou2f2 G A 7: 24,792,320 (GRCm39) P512S probably benign Het
Prpf8 G A 11: 75,397,236 (GRCm39) R2023Q possibly damaging Het
Ptprd A T 4: 76,047,050 (GRCm39) S399R probably damaging Het
Qrich2 T C 11: 116,337,976 (GRCm39) Y1889C probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Ranbp6 G T 19: 29,789,128 (GRCm39) T408K probably benign Het
Scn7a G A 2: 66,530,342 (GRCm39) R668C probably damaging Het
Sertad4 T C 1: 192,529,414 (GRCm39) N134S probably damaging Het
Spg11 G T 2: 121,891,481 (GRCm39) N1963K probably damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Top2a T C 11: 98,909,738 (GRCm39) N120S probably damaging Het
Trappc9 C T 15: 72,930,066 (GRCm39) E97K possibly damaging Het
Vmn1r91 A T 7: 19,835,386 (GRCm39) T102S probably benign Het
Vmn2r99 G T 17: 19,599,601 (GRCm39) M428I probably benign Het
Zfp62 A T 11: 49,107,439 (GRCm39) H510L probably damaging Het
Other mutations in Fam221a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Fam221a UTSW 6 49,355,411 (GRCm39) missense probably damaging 1.00
R3713:Fam221a UTSW 6 49,349,548 (GRCm39) missense probably damaging 1.00
R3747:Fam221a UTSW 6 49,349,630 (GRCm39) missense probably damaging 1.00
R3748:Fam221a UTSW 6 49,349,630 (GRCm39) missense probably damaging 1.00
R4386:Fam221a UTSW 6 49,355,366 (GRCm39) missense probably damaging 1.00
R5763:Fam221a UTSW 6 49,355,518 (GRCm39) missense probably damaging 1.00
R6005:Fam221a UTSW 6 49,344,756 (GRCm39) unclassified probably benign
R6684:Fam221a UTSW 6 49,349,542 (GRCm39) nonsense probably null
R7069:Fam221a UTSW 6 49,355,432 (GRCm39) missense probably damaging 0.99
R7732:Fam221a UTSW 6 49,349,563 (GRCm39) missense probably benign 0.21
R8152:Fam221a UTSW 6 49,355,490 (GRCm39) missense probably damaging 1.00
R9471:Fam221a UTSW 6 49,349,520 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAAGGCTCCTGACTAAAGCTG -3'
(R):5'- CTCTGCAACTTCGCATAAGAATGG -3'

Sequencing Primer
(F):5'- CCTGACTAAAGCTGTTAGAAGTGTCC -3'
(R):5'- TGGAACTTACAGGCATTGCATG -3'
Posted On 2016-08-04