Incidental Mutation 'IGL01386:Fam217a'
ID79063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam217a
Ensembl Gene ENSMUSG00000021414
Gene Namefamily with sequence similarity 217, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL01386
Quality Score
Status
Chromosome13
Chromosomal Location34909960-34924310 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 34915649 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000223834] [ENSMUST00000225242]
Predicted Effect probably benign
Transcript: ENSMUST00000021851
SMART Domains Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414

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: ENSMUST00000223834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224613
Predicted Effect probably benign
Transcript: ENSMUST00000225242
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,193,672 R214G probably benign Het
Cacna1e T A 1: 154,472,377 K817N probably benign Het
Cyp3a16 A G 5: 145,440,434 F448L probably damaging Het
Dpp6 T A 5: 27,664,762 probably null Het
Eif2ak3 C T 6: 70,892,726 T799M probably damaging Het
Erbb4 A T 1: 68,343,931 S302R probably damaging Het
Flt4 C A 11: 49,637,335 A995D probably benign Het
Fpr-rs7 G A 17: 20,114,192 S12L probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Hpcal4 T C 4: 123,189,242 probably null Het
Intu A T 3: 40,692,587 D630V probably damaging Het
Jak3 A G 8: 71,684,289 D703G probably damaging Het
Lama4 A G 10: 39,011,064 I122V probably benign Het
Marc2 A G 1: 184,819,216 probably benign Het
Mrpl11 A C 19: 4,963,381 K92T probably null Het
Mylk A G 16: 34,971,240 probably null Het
Olfr599 A T 7: 103,338,767 K238* probably null Het
Parpbp A C 10: 88,139,986 Y88* probably null Het
Plod2 G A 9: 92,606,602 R627Q probably damaging Het
Rapsn G T 2: 91,036,799 A149S probably damaging Het
Ripk3 T G 14: 55,786,027 Q109P probably damaging Het
Scaf11 T C 15: 96,420,480 D401G probably damaging Het
Serpine2 G A 1: 79,801,551 T150I probably damaging Het
Sh2d6 T A 6: 72,518,962 T98S probably benign Het
Slc28a1 G T 7: 81,164,679 A513S probably benign Het
Tanc2 T C 11: 105,886,381 F795S probably damaging Het
Tcim T A 8: 24,438,689 I70F probably benign Het
Thbd G A 2: 148,407,682 Q89* probably null Het
Tmem115 C T 9: 107,534,660 T61I probably damaging Het
Tsc2 A T 17: 24,613,285 V650E probably damaging Het
Tubgcp6 A T 15: 89,107,996 Y595* probably null Het
Uroc1 C T 6: 90,346,765 A398V probably damaging Het
Vmn1r31 T C 6: 58,472,602 T93A probably benign Het
Vmn2r113 A G 17: 22,956,050 E545G possibly damaging Het
Vps13a A G 19: 16,701,152 V1155A possibly damaging Het
Zfp667 A G 7: 6,304,870 H179R probably benign Het
Other mutations in Fam217a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02222:Fam217a APN 13 34911119 missense probably damaging 1.00
IGL02302:Fam217a APN 13 34911161 missense probably damaging 1.00
IGL02371:Fam217a APN 13 34911401 missense possibly damaging 0.53
IGL02538:Fam217a APN 13 34911113 missense probably damaging 0.98
R0324:Fam217a UTSW 13 34910961 missense possibly damaging 0.71
R0616:Fam217a UTSW 13 34913683 missense probably benign 0.03
R1497:Fam217a UTSW 13 34911212 missense probably damaging 0.97
R1934:Fam217a UTSW 13 34910881 missense probably damaging 1.00
R1981:Fam217a UTSW 13 34916754 missense probably benign 0.07
R2133:Fam217a UTSW 13 34913680 missense probably damaging 1.00
R2344:Fam217a UTSW 13 34910335 missense probably damaging 1.00
R4182:Fam217a UTSW 13 34910256 missense possibly damaging 0.75
R4601:Fam217a UTSW 13 34911302 missense probably damaging 1.00
R4909:Fam217a UTSW 13 34910406 missense probably damaging 1.00
R5583:Fam217a UTSW 13 34910297 missense probably damaging 1.00
R6027:Fam217a UTSW 13 34910994 missense possibly damaging 0.77
R6496:Fam217a UTSW 13 34910802 nonsense probably null
R7166:Fam217a UTSW 13 34910315 missense probably benign 0.07
R7394:Fam217a UTSW 13 34910279 missense possibly damaging 0.73
R7710:Fam217a UTSW 13 34911128 missense possibly damaging 0.92
R8409:Fam217a UTSW 13 34916898 missense probably benign
R8716:Fam217a UTSW 13 34924265 start gained probably benign
R8782:Fam217a UTSW 13 34911050 missense probably benign
Posted On2013-11-05