Incidental Mutation 'R7394:Fam217a'
ID 573682
Institutional Source Beutler Lab
Gene Symbol Fam217a
Ensembl Gene ENSMUSG00000021414
Gene Name family with sequence similarity 217, member A
Synonyms 1700026J04Rik
MMRRC Submission 045476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R7394 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 35093943-35108293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35094262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 499 (I499K)
Ref Sequence ENSEMBL: ENSMUSP00000021851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000077853] [ENSMUST00000223834] [ENSMUST00000225242]
AlphaFold Q9D9W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021851
AA Change: I499K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: I499K

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 benign
Transcript: ENSMUST00000077853
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413

DomainStartEndE-ValueType
low complexity region 40 62 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 102 123 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 156 170 N/A INTRINSIC
low complexity region 178 197 N/A INTRINSIC
low complexity region 210 233 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 284 294 N/A INTRINSIC
low complexity region 299 324 N/A INTRINSIC
low complexity region 340 360 N/A INTRINSIC
low complexity region 390 417 N/A INTRINSIC
low complexity region 435 497 N/A INTRINSIC
low complexity region 521 535 N/A INTRINSIC
low complexity region 562 581 N/A INTRINSIC
S_TKc 687 1003 4.99e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220965
Predicted Effect possibly damaging
Transcript: ENSMUST00000223834
AA Change: I651K

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225242
AA Change: I408K

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,445,038 (GRCm39) I208V probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Aldh1l2 T A 10: 83,338,321 (GRCm39) I646F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Ank2 T A 3: 126,730,302 (GRCm39) I711L possibly damaging Het
Ankrd6 T C 4: 32,821,298 (GRCm39) N251D probably damaging Het
Ap3m1 T C 14: 21,088,147 (GRCm39) T304A probably benign Het
Arhgef39 T C 4: 43,499,532 (GRCm39) T26A possibly damaging Het
Carnmt1 G T 19: 18,648,201 (GRCm39) probably benign Het
Ccr4 C T 9: 114,320,994 (GRCm39) R357H probably benign Het
Cd4 T A 6: 124,850,004 (GRCm39) M104L probably benign Het
Cd74 A T 18: 60,936,965 (GRCm39) probably benign Het
Cdcp1 T C 9: 123,002,878 (GRCm39) Y731C probably damaging Het
Cdyl2 A G 8: 117,350,790 (GRCm39) S114P not run Het
Cenpv T C 11: 62,427,114 (GRCm39) D148G probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap57 T A 4: 118,450,334 (GRCm39) Y596F probably benign Het
Clec4a2 C A 6: 123,116,079 (GRCm39) A122E unknown Het
Col4a2 A G 8: 11,496,184 (GRCm39) T1602A probably benign Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2j11 A T 4: 96,204,677 (GRCm39) Y290N probably benign Het
Dhx38 A T 8: 110,283,155 (GRCm39) V554E probably damaging Het
Ebf2 T C 14: 67,474,975 (GRCm39) V70A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fras1 C A 5: 96,860,309 (GRCm39) Y2118* probably null Het
Gm3248 A T 14: 5,945,781 (GRCm38) probably null Het
Gm5460 T G 14: 33,765,879 (GRCm39) D165E possibly damaging Het
Grk4 A T 5: 34,908,962 (GRCm39) N490Y probably benign Het
Iglc2 T A 16: 19,013,886 (GRCm39) K59* probably null Het
Iqsec3 T A 6: 121,363,569 (GRCm39) H895L possibly damaging Het
Itgb7 A G 15: 102,127,689 (GRCm39) S410P probably damaging Het
Kmt2d C A 15: 98,754,265 (GRCm39) V1613F unknown Het
Lama1 T C 17: 68,024,256 (GRCm39) L118P Het
Lrrc25 A T 8: 71,070,830 (GRCm39) S204C possibly damaging Het
Malrd1 A G 2: 15,700,010 (GRCm39) D619G unknown Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Mup17 G A 4: 61,512,635 (GRCm39) S86F probably benign Het
Nbeal2 C T 9: 110,459,257 (GRCm39) probably null Het
Nfkb1 A C 3: 135,319,458 (GRCm39) V291G possibly damaging Het
Nomo1 G T 7: 45,715,903 (GRCm39) V757F probably benign Het
Nutm2 T A 13: 50,624,043 (GRCm39) S247T probably damaging Het
Or2at1 C A 7: 99,416,553 (GRCm39) H61Q probably damaging Het
Or4c120 C T 2: 89,000,705 (GRCm39) V284I probably benign Het
Or4f4-ps1 G T 2: 111,330,241 (GRCm39) A215S probably damaging Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or9k2b T A 10: 130,016,123 (GRCm39) I209F probably damaging Het
Pcdhb14 A G 18: 37,581,961 (GRCm39) I356V probably benign Het
Pnkp T A 7: 44,508,102 (GRCm39) S142T probably damaging Het
Ppia T C 11: 6,369,218 (GRCm39) S99P possibly damaging Het
Prss47 C T 13: 65,192,807 (GRCm39) V325I probably benign Het
Ptgr3 C T 18: 84,106,315 (GRCm39) A9V probably benign Het
Ptk7 T C 17: 46,902,683 (GRCm39) D34G probably damaging Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
Rasa3 G T 8: 13,645,353 (GRCm39) D195E probably benign Het
Rnf150 T A 8: 83,717,100 (GRCm39) Y202* probably null Het
Sh2d1b2 T C 1: 170,075,716 (GRCm39) V50A probably damaging Het
Slc30a4 C T 2: 122,527,224 (GRCm39) V390I possibly damaging Het
Slc30a9 G T 5: 67,510,109 (GRCm39) probably null Het
Slc8a3 T A 12: 81,260,832 (GRCm39) probably null Het
Smpd3 G A 8: 106,991,642 (GRCm39) R304W probably damaging Het
Snta1 A G 2: 154,218,780 (GRCm39) S490P probably damaging Het
Srcap T G 7: 127,134,000 (GRCm39) M887R probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sult2a3 T C 7: 13,845,449 (GRCm39) T137A probably benign Het
Tspoap1 C T 11: 87,656,945 (GRCm39) Q367* probably null Het
Uroc1 C T 6: 90,322,315 (GRCm39) R280C probably damaging Het
Ush2a T C 1: 188,643,613 (GRCm39) I4325T possibly damaging Het
Vmn1r32 A G 6: 66,530,173 (GRCm39) I201T probably benign Het
Zbtb47 T A 9: 121,596,411 (GRCm39) M626K 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
R7710:Fam217a UTSW 13 35,095,111 (GRCm39) missense possibly damaging 0.92
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'- TCAGCAGTGACATTCATGAGTTC -3'
(R):5'- GTTTAAACCCTTGCCAGGAACC -3'

Sequencing Primer
(F):5'- AGCAGTGACATTCATGAGTTCTACCC -3'
(R):5'- TCAACCAATGGCTAGAGTGGTCTC -3'
Posted On 2019-09-13