Incidental Mutation 'R4909:Fam217a'
ID 379322
Institutional Source Beutler Lab
Gene Symbol Fam217a
Ensembl Gene ENSMUSG00000021414
Gene Name family with sequence similarity 217, member A
Synonyms 1700026J04Rik
MMRRC Submission 042511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4909 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 35093943-35108293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35094389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 609 (S609P)
Ref Sequence ENSEMBL: ENSMUSP00000153297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000077853] [ENSMUST00000223834] [ENSMUST00000225242]
AlphaFold Q9D9W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021851
AA Change: S457P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: S457P

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 noncoding transcript
Transcript: ENSMUST00000221156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223228
Predicted Effect probably damaging
Transcript: ENSMUST00000223834
AA Change: S609P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000225242
AA Change: S366P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224613
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (101/104)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik A T 12: 20,865,089 (GRCm39) noncoding transcript Het
Aars1 G A 8: 111,781,715 (GRCm39) G929D probably damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Actn4 A T 7: 28,598,082 (GRCm39) L506Q probably damaging Het
Adam26a A T 8: 44,023,475 (GRCm39) F5Y probably benign Het
Adamts5 G A 16: 85,696,954 (GRCm39) Q68* probably null Het
Adcy9 A G 16: 4,116,618 (GRCm39) I871T probably benign Het
Ak5 A T 3: 152,361,514 (GRCm39) L136H probably damaging Het
Ap1g2 A G 14: 55,342,483 (GRCm39) probably null Het
Ap2a1 G A 7: 44,555,805 (GRCm39) T355M probably damaging Het
Ap3s2 T C 7: 79,564,989 (GRCm39) D60G possibly damaging Het
Apold1 G A 6: 134,960,558 (GRCm39) R4Q probably benign Het
Atp13a5 G T 16: 29,152,846 (GRCm39) Q207K possibly damaging Het
BC035947 A C 1: 78,474,666 (GRCm39) I622S probably damaging Het
Bmper G T 9: 23,289,021 (GRCm39) V339F probably benign Het
Btbd8 C T 5: 107,655,176 (GRCm39) Q992* probably null Het
C1ra A G 6: 124,499,293 (GRCm39) D493G probably damaging Het
C3 C T 17: 57,533,830 (GRCm39) probably null Het
Cabp4 T A 19: 4,187,120 (GRCm39) I209F possibly damaging Het
Cacna1s A T 1: 136,007,342 (GRCm39) H453L probably damaging Het
Camk2g A G 14: 20,842,652 (GRCm39) V32A probably benign Het
Ccdc175 G A 12: 72,206,527 (GRCm39) R240C probably damaging Het
Cdk13 C T 13: 17,946,988 (GRCm39) S590N possibly damaging Het
Cfap45 A T 1: 172,357,443 (GRCm39) T24S probably benign Het
Clca3a1 T G 3: 144,730,324 (GRCm39) K174Q probably damaging Het
Col1a2 G A 6: 4,529,058 (GRCm39) probably benign Het
Colgalt1 A T 8: 72,073,277 (GRCm39) I323F possibly damaging Het
Cpeb3 A T 19: 37,152,059 (GRCm39) S106T probably damaging Het
Cpeb3 T C 19: 37,151,633 (GRCm39) S248G possibly damaging Het
Ctcfl C T 2: 172,937,191 (GRCm39) A576T probably benign Het
Cyp4f16 T G 17: 32,769,295 (GRCm39) V395G possibly damaging Het
Dchs1 C T 7: 105,415,462 (GRCm39) G605S probably damaging Het
Egflam A T 15: 7,249,110 (GRCm39) F903I probably damaging Het
Eif5a G A 11: 69,808,311 (GRCm39) A62V possibly damaging Het
Fhad1 T A 4: 141,712,822 (GRCm39) I206F probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fras1 T A 5: 96,856,617 (GRCm39) M2000K probably benign Het
Frmd5 C T 2: 121,422,134 (GRCm39) probably null Het
Gle1 T C 2: 29,826,092 (GRCm39) L57P probably benign Het
Glrx3 C A 7: 137,046,765 (GRCm39) N52K probably damaging Het
Grin3b A G 10: 79,812,938 (GRCm39) *1004W probably null Het
Hectd4 T A 5: 121,401,954 (GRCm39) F347L probably benign Het
Htra1 G A 7: 130,586,802 (GRCm39) V462I probably benign Het
Itga11 A G 9: 62,662,581 (GRCm39) Y518C probably damaging Het
Krtap15-1 T C 16: 88,626,253 (GRCm39) F88L probably benign Het
Ktn1 A T 14: 47,943,917 (GRCm39) R866W probably damaging Het
Lamb1 G A 12: 31,338,280 (GRCm39) R483H probably damaging Het
Megf6 C T 4: 154,349,848 (GRCm39) R983C probably damaging Het
Mybpc3 T A 2: 90,965,157 (GRCm39) D1075E probably benign Het
Myo7b A T 18: 32,097,489 (GRCm39) N1792K probably benign Het
Nabp2 A T 10: 128,237,556 (GRCm39) probably benign Het
Neil3 A G 8: 54,091,928 (GRCm39) C7R probably damaging Het
Nxpe2 T A 9: 48,230,897 (GRCm39) I491F possibly damaging Het
Obscn A G 11: 58,952,291 (GRCm39) V4292A possibly damaging Het
Ogfod3 A G 11: 121,088,318 (GRCm39) S139P probably damaging Het
Oog2 T C 4: 143,921,669 (GRCm39) I211T possibly damaging Het
Oosp1 T C 19: 11,666,080 (GRCm39) D70G probably benign Het
Or10j2 A T 1: 173,098,546 (GRCm39) D268V probably damaging Het
Or1ab2 A G 8: 72,863,425 (GRCm39) N5S probably damaging Het
Or56a42-ps1 C A 7: 104,777,435 (GRCm39) V70L probably benign Het
Or6c210 A G 10: 129,496,589 (GRCm39) I305V probably benign Het
Padi3 T C 4: 140,522,937 (GRCm39) D345G probably damaging Het
Pcyt2 A G 11: 120,506,246 (GRCm39) F71L probably benign Het
Pi4k2b T C 5: 52,911,971 (GRCm39) probably benign Het
Pigr A C 1: 130,776,195 (GRCm39) T577P possibly damaging Het
Pirb G A 7: 3,722,361 (GRCm39) Q161* probably null Het
Pnlip A G 19: 58,664,672 (GRCm39) E204G possibly damaging Het
Pop7 G T 5: 137,500,161 (GRCm39) D57E probably benign Het
Ppfia4 A T 1: 134,260,239 (GRCm39) I8N probably damaging Het
Pprc1 A G 19: 46,052,758 (GRCm39) T759A probably damaging Het
Prom1 T C 5: 44,202,894 (GRCm39) N213S probably benign Het
Prop1 GCTTCACT GCTTCACTTCACT 11: 50,842,863 (GRCm39) probably null Het
Prop1 A T 11: 50,842,872 (GRCm39) L105H probably damaging Het
Pwp2 A T 10: 78,018,328 (GRCm39) M121K possibly damaging Het
Rap1gds1 A T 3: 138,689,509 (GRCm39) M161K possibly damaging Het
Rps6kb2 T A 19: 4,207,002 (GRCm39) probably benign Het
Rxfp1 A G 3: 79,552,109 (GRCm39) S731P probably benign Het
Scfd1 T C 12: 51,437,195 (GRCm39) V137A probably benign Het
Slc6a15 G A 10: 103,240,275 (GRCm39) D333N probably damaging Het
Sqor T C 2: 122,627,101 (GRCm39) V74A possibly damaging Het
Stil T A 4: 114,881,422 (GRCm39) Y655* probably null Het
Syt14 A T 1: 192,581,167 (GRCm39) I468K probably damaging Het
Tbc1d31 T C 15: 57,825,661 (GRCm39) probably null Het
Tspyl5 A T 15: 33,686,995 (GRCm39) S317T probably damaging Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Ttf2 T C 3: 100,861,631 (GRCm39) T620A probably damaging Het
Usp32 G A 11: 84,946,598 (GRCm39) Q269* probably null Het
Vsig10 T A 5: 117,476,308 (GRCm39) V254E probably benign Het
Wdr6 C T 9: 108,450,187 (GRCm39) A1114T probably benign Het
Zfp280d A G 9: 72,238,714 (GRCm39) S63G probably damaging Het
Zfp607b A G 7: 27,403,221 (GRCm39) D559G probably benign Het
Zfp934 T C 13: 62,665,768 (GRCm39) H291R 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
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
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'- ACCTGTGTCTCAATGATGAACC -3'
(R):5'- GTGCTGTGGCTCATGATGAC -3'

Sequencing Primer
(F):5'- GGTTTTGTGGAATAGATTCACTCAC -3'
(R):5'- CTGTGGCTCATGATGACCTAAAG -3'
Posted On 2016-04-15