Incidental Mutation 'R7710:Fam217a'
ID 594560
Institutional Source Beutler Lab
Gene Symbol Fam217a
Ensembl Gene ENSMUSG00000021414
Gene Name family with sequence similarity 217, member A
Synonyms 1700026J04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 35093943-35108293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35095111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 216 (D216G)
Ref Sequence ENSEMBL: ENSMUSP00000021851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000223834] [ENSMUST00000225242]
AlphaFold Q9D9W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021851
AA Change: D216G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: D216G

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:FAM217 206 411 2e-54 PFAM
low complexity region 425 436 N/A INTRINSIC
low complexity region 444 455 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223834
AA Change: D368G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225242
AA Change: D125G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Cacna2d4 A G 6: 119,251,200 (GRCm39) I463V probably benign Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Ercc8 G A 13: 108,320,397 (GRCm39) A328T probably benign Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pla2g6 A T 15: 79,171,358 (GRCm39) V744E probably damaging Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shcbp1 A G 8: 4,814,965 (GRCm39) F171S probably benign Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Trpm3 G T 19: 22,896,154 (GRCm39) R997L probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E probably damaging Het
Other mutations in Fam217a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Fam217a APN 13 35,099,632 (GRCm39) splice site probably benign
IGL02222:Fam217a APN 13 35,095,102 (GRCm39) missense probably damaging 1.00
IGL02302:Fam217a APN 13 35,095,144 (GRCm39) missense probably damaging 1.00
IGL02371:Fam217a APN 13 35,095,384 (GRCm39) missense possibly damaging 0.53
IGL02538:Fam217a APN 13 35,095,096 (GRCm39) missense probably damaging 0.98
R0324:Fam217a UTSW 13 35,094,944 (GRCm39) missense possibly damaging 0.71
R0616:Fam217a UTSW 13 35,097,666 (GRCm39) missense probably benign 0.03
R1497:Fam217a UTSW 13 35,095,195 (GRCm39) missense probably damaging 0.97
R1934:Fam217a UTSW 13 35,094,864 (GRCm39) missense probably damaging 1.00
R1981:Fam217a UTSW 13 35,100,737 (GRCm39) missense probably benign 0.07
R2133:Fam217a UTSW 13 35,097,663 (GRCm39) missense probably damaging 1.00
R2344:Fam217a UTSW 13 35,094,318 (GRCm39) missense probably damaging 1.00
R4182:Fam217a UTSW 13 35,094,239 (GRCm39) missense possibly damaging 0.75
R4601:Fam217a UTSW 13 35,095,285 (GRCm39) missense probably damaging 1.00
R4909:Fam217a UTSW 13 35,094,389 (GRCm39) missense probably damaging 1.00
R5583:Fam217a UTSW 13 35,094,280 (GRCm39) missense probably damaging 1.00
R6027:Fam217a UTSW 13 35,094,977 (GRCm39) missense possibly damaging 0.77
R6496:Fam217a UTSW 13 35,094,785 (GRCm39) nonsense probably null
R7166:Fam217a UTSW 13 35,094,298 (GRCm39) missense probably benign 0.07
R7394:Fam217a UTSW 13 35,094,262 (GRCm39) missense possibly damaging 0.73
R8409:Fam217a UTSW 13 35,100,881 (GRCm39) missense probably benign
R8716:Fam217a UTSW 13 35,108,248 (GRCm39) start gained probably benign
R8782:Fam217a UTSW 13 35,095,033 (GRCm39) missense probably benign
R8936:Fam217a UTSW 13 35,095,147 (GRCm39) missense probably damaging 1.00
R9036:Fam217a UTSW 13 35,095,007 (GRCm39) missense possibly damaging 0.93
R9333:Fam217a UTSW 13 35,100,876 (GRCm39) missense probably benign 0.00
R9347:Fam217a UTSW 13 35,094,662 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTCCAGCTTTCACATTTGGAG -3'
(R):5'- ATCCTGGTCAGTCAATGCCAG -3'

Sequencing Primer
(F):5'- CCAGCTTTCACATTTGGAGAAGGC -3'
(R):5'- TCAGTCAATGCCAGCAGGTCTG -3'
Posted On 2019-11-12