Incidental Mutation 'R6027:Fam217a'
ID 480128
Institutional Source Beutler Lab
Gene Symbol Fam217a
Ensembl Gene ENSMUSG00000021414
Gene Name family with sequence similarity 217, member A
Synonyms 1700026J04Rik
MMRRC Submission 044199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R6027 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 35093943-35108293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35094977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 170 (T170S)
Ref Sequence ENSEMBL: ENSMUSP00000153128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000077853] [ENSMUST00000223834] [ENSMUST00000225242]
AlphaFold Q9D9W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000021851
AA Change: T261S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: T261S

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 benign
Transcript: ENSMUST00000223834
AA Change: T413S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225242
AA Change: T170S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224613
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,289,003 (GRCm39) V2299A probably benign Het
Acacb A G 5: 114,303,661 (GRCm39) D28G probably benign Het
Adamts6 G A 13: 104,616,043 (GRCm39) G1035D probably damaging Het
Adamts7 A C 9: 90,073,078 (GRCm39) Y755S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ank2 T C 3: 126,791,528 (GRCm39) T763A possibly damaging Het
Armc9 G C 1: 86,172,389 (GRCm39) L105F probably damaging Het
Asah2 T C 19: 32,022,351 (GRCm39) N228D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,390,794 (GRCm39) V693G probably damaging Het
Bptf T C 11: 106,965,771 (GRCm39) E1141G probably damaging Het
Col12a1 C T 9: 79,563,860 (GRCm39) probably null Het
Csmd2 G A 4: 128,453,739 (GRCm39) D3475N unknown Het
Dctn5 T C 7: 121,732,564 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,723,580 (GRCm39) K18E probably benign Het
Eci2 A T 13: 35,169,930 (GRCm39) probably null Het
Efcab6 A G 15: 83,851,922 (GRCm39) F319L probably benign Het
Elane A T 10: 79,722,852 (GRCm39) H86L probably damaging Het
Endod1 A T 9: 14,268,893 (GRCm39) Y197* probably null Het
Eno4 A G 19: 58,935,262 (GRCm39) D158G probably damaging Het
Fbxo7 A G 10: 85,883,950 (GRCm39) D517G probably damaging Het
Fkbp3 G T 12: 65,120,692 (GRCm39) A2E possibly damaging Het
Gan A G 8: 117,885,034 (GRCm39) Y54C probably damaging Het
Gdap1l1 T A 2: 163,293,531 (GRCm39) N194K possibly damaging Het
Gnptab A G 10: 88,269,087 (GRCm39) T597A probably damaging Het
Hmcn1 A G 1: 150,678,646 (GRCm39) S492P possibly damaging Het
Hmox1 C A 8: 75,823,499 (GRCm39) H56N probably damaging Het
Kank3 C T 17: 34,037,088 (GRCm39) P131S possibly damaging Het
Kif14 T C 1: 136,410,797 (GRCm39) probably null Het
Kif1a A T 1: 92,953,365 (GRCm39) M1274K probably benign Het
Kmt2a A T 9: 44,730,587 (GRCm39) probably benign Het
Lypla1 T C 1: 4,907,299 (GRCm39) probably null Het
Man2b1 C T 8: 85,823,381 (GRCm39) T905I probably damaging Het
Mmp15 C A 8: 96,098,804 (GRCm39) H544N probably benign Het
Myh7 A T 14: 55,208,259 (GRCm39) N1933K probably benign Het
Ndst4 G T 3: 125,507,025 (GRCm39) A730S probably benign Het
Nmur1 G A 1: 86,315,053 (GRCm39) Q238* probably null Het
Nwd2 C T 5: 63,965,563 (GRCm39) P1716S possibly damaging Het
Or13c7c A G 4: 43,835,842 (GRCm39) V216A probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8k38 T G 2: 86,488,148 (GRCm39) Y218S probably damaging Het
P2ry6 T G 7: 100,587,715 (GRCm39) M215L probably benign Het
Parp4 G A 14: 56,866,615 (GRCm39) E1060K probably benign Het
Pde10a A G 17: 9,183,509 (GRCm39) I822V possibly damaging Het
Pira13 T C 7: 3,827,638 (GRCm39) Y173C possibly damaging Het
Pkd1l1 C A 11: 8,866,272 (GRCm39) G528* probably null Het
Ptk2 T A 15: 73,101,762 (GRCm39) Q816L probably damaging Het
Ptprg T C 14: 12,220,613 (GRCm38) F442L possibly damaging Het
Qrfpr A G 3: 36,276,187 (GRCm39) Y68H probably benign Het
Ripk4 A G 16: 97,545,274 (GRCm39) W458R probably damaging Het
Ros1 G T 10: 52,040,064 (GRCm39) T309N possibly damaging Het
Rps27a T C 11: 29,497,808 (GRCm39) probably benign Het
Sarm1 T A 11: 78,374,384 (GRCm39) M577L probably benign Het
Scin T C 12: 40,127,515 (GRCm39) Y425C probably damaging Het
Serpina12 T A 12: 103,997,336 (GRCm39) Y395F probably benign Het
Sfxn2 T A 19: 46,571,291 (GRCm39) Y69* probably null Het
Skint6 T C 4: 112,953,761 (GRCm39) probably null Het
Slc7a1 A C 5: 148,270,774 (GRCm39) I564S possibly damaging Het
Smc6 T A 12: 11,356,179 (GRCm39) Y933N probably benign Het
Sp110 T C 1: 85,505,039 (GRCm39) S438G possibly damaging Het
St8sia4 T A 1: 95,581,399 (GRCm39) R114S probably damaging Het
Trim11 C T 11: 58,869,289 (GRCm39) A75V possibly damaging Het
Tufm T A 7: 126,086,920 (GRCm39) H68Q probably damaging Het
Ythdc2 T A 18: 44,993,503 (GRCm39) D194E probably benign 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
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'- TCTGCCATTGAAAACATGGAGC -3'
(R):5'- TTCAAATACAGAAACAGCAGTGTGG -3'

Sequencing Primer
(F):5'- GCTATAGAAAGTGCTTTGCAGCC -3'
(R):5'- CAGCAGTGTGGAAGAAAATGTCAC -3'
Posted On 2017-06-26