Incidental Mutation 'IGL02538:Fam217a'
ID 297589
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02538
Quality Score
Status
Chromosome 13
Chromosomal Location 35093943-35108293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35095096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 221 (Y221C)
Ref Sequence ENSEMBL: ENSMUSP00000021851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000223834] [ENSMUST00000225242]
AlphaFold Q9D9W6
Predicted Effect probably damaging
Transcript: ENSMUST00000021851
AA Change: Y221C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: Y221C

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 possibly damaging
Transcript: ENSMUST00000223834
AA Change: Y373C

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224613
Predicted Effect probably benign
Transcript: ENSMUST00000225242
AA Change: Y130C

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,136,949 (GRCm39) I171L possibly damaging Het
Amdhd1 C T 10: 93,363,108 (GRCm39) V327I probably damaging Het
Ankrd1 T C 19: 36,092,456 (GRCm39) H257R probably damaging Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Atg2a A G 19: 6,307,658 (GRCm39) T1531A probably benign Het
Bsn A G 9: 107,982,435 (GRCm39) S1001P unknown Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Cd22 G T 7: 30,576,985 (GRCm39) N107K probably benign Het
Ceacam10 A G 7: 24,477,908 (GRCm39) H141R probably damaging Het
Chil3 T C 3: 106,071,445 (GRCm39) D73G probably damaging Het
Cit C T 5: 116,125,048 (GRCm39) Q1536* probably null Het
Dmgdh T A 13: 93,845,261 (GRCm39) I418K possibly damaging Het
Efcab6 T A 15: 83,938,722 (GRCm39) probably benign Het
Eif4g2 T C 7: 110,678,523 (GRCm39) I110V probably benign Het
Fezf1 T A 6: 23,246,557 (GRCm39) K342N probably damaging Het
Git2 A T 5: 114,869,047 (GRCm39) probably benign Het
Gm8126 A T 14: 43,117,047 (GRCm39) R63W probably benign Het
Ica1l T C 1: 60,049,345 (GRCm39) K203E probably benign Het
Iigp1c A T 18: 60,378,944 (GRCm39) K160* probably null Het
Inpp5d A G 1: 87,623,088 (GRCm39) M393V probably null Het
Kbtbd11 A G 8: 15,078,841 (GRCm39) D480G probably damaging Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lhfpl6 C T 3: 52,950,732 (GRCm39) A2V probably benign Het
Lipk T A 19: 34,024,279 (GRCm39) L354Q probably damaging Het
Luzp2 T A 7: 54,861,546 (GRCm39) L225* probably null Het
Mknk1 C T 4: 115,717,288 (GRCm39) Q58* probably null Het
Mmut A T 17: 41,249,510 (GRCm39) I162F probably damaging Het
Nol11 T A 11: 107,064,199 (GRCm39) M518L probably benign Het
Nubpl T C 12: 52,357,477 (GRCm39) probably benign Het
Nup35 T A 2: 80,474,563 (GRCm39) S93R possibly damaging Het
Or2t48 T C 11: 58,420,816 (GRCm39) probably benign Het
Or5ak22 T A 2: 85,230,647 (GRCm39) I77F probably damaging Het
Pex3 T C 10: 13,411,344 (GRCm39) E178G possibly damaging Het
Rad23b C A 4: 55,370,457 (GRCm39) P161Q possibly damaging Het
Sipa1l2 A G 8: 126,178,716 (GRCm39) S1128P probably damaging Het
Terb2 T C 2: 122,035,289 (GRCm39) probably benign Het
Trim72 A G 7: 127,603,942 (GRCm39) Y96C probably damaging Het
Tyk2 T C 9: 21,022,339 (GRCm39) D830G possibly damaging Het
Uri1 A G 7: 37,664,916 (GRCm39) S259P probably benign Het
Usp38 A T 8: 81,712,187 (GRCm39) L616H probably damaging Het
Uspl1 T A 5: 149,125,269 (GRCm39) C73S probably damaging Het
Wdr7 C A 18: 63,929,306 (GRCm39) D1047E 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
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
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
Posted On 2015-04-16