Incidental Mutation 'IGL00923:Fam8a1'
ID28848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam8a1
Ensembl Gene ENSMUSG00000069237
Gene Namefamily with sequence similarity 8, member A1
SynonymsC78339
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL00923
Quality Score
Status
Chromosome13
Chromosomal Location46669522-46678056 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 46673671 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099547]
Predicted Effect probably null
Transcript: ENSMUST00000099547
SMART Domains Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237

DomainStartEndE-ValueType
low complexity region 31 56 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 168 190 N/A INTRINSIC
Pfam:RDD 229 389 2.9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150376
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,684,376 E956V probably benign Het
Adcy2 C T 13: 68,620,796 G1071E probably damaging Het
Adgrv1 A T 13: 81,382,291 V5888D probably damaging Het
Arhgef12 G A 9: 43,020,624 T189I probably damaging Het
Cp T C 3: 19,970,001 L335P probably damaging Het
Cwf19l1 A G 19: 44,131,410 probably null Het
Dgki A T 6: 36,862,456 N933K probably benign Het
Dixdc1 G T 9: 50,667,733 A660D probably damaging Het
Dnajc9 T C 14: 20,385,447 D232G probably benign Het
Dock9 A G 14: 121,607,092 probably benign Het
Elp6 A T 9: 110,310,125 T29S probably damaging Het
Fbn2 A T 18: 58,012,325 D2746E probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Mtss1 G T 15: 58,943,499 N737K possibly damaging Het
Nbas T C 12: 13,336,284 V737A possibly damaging Het
Ndrg1 A T 15: 66,943,110 N164K probably damaging Het
Nrtn A G 17: 56,752,447 S11P probably damaging Het
Olfr1205 T G 2: 88,831,112 probably null Het
Olfr1318 T A 2: 112,156,777 D275E possibly damaging Het
Rab10 T A 12: 3,253,334 M118L probably benign Het
Slc11a2 A G 15: 100,397,788 V175A probably benign Het
Tex21 T A 12: 76,245,111 D12V probably damaging Het
Ttn T A 2: 76,900,928 probably benign Het
Vmn1r215 G A 13: 23,076,249 G153D probably damaging Het
Zc3h4 A G 7: 16,429,692 D612G unknown Het
Zfp354c A T 11: 50,815,613 Y212N probably damaging Het
Zmiz2 T A 11: 6,402,845 M631K probably damaging Het
Other mutations in Fam8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02067:Fam8a1 APN 13 46669848 missense possibly damaging 0.49
IGL02670:Fam8a1 APN 13 46673604 missense possibly damaging 0.83
R0626:Fam8a1 UTSW 13 46671223 missense probably damaging 1.00
R4594:Fam8a1 UTSW 13 46671266 missense probably damaging 1.00
R5155:Fam8a1 UTSW 13 46673562 missense probably benign 0.34
R5652:Fam8a1 UTSW 13 46674338 missense probably damaging 1.00
R5654:Fam8a1 UTSW 13 46674338 missense probably damaging 1.00
R5655:Fam8a1 UTSW 13 46674338 missense probably damaging 1.00
R6192:Fam8a1 UTSW 13 46669623 missense probably damaging 1.00
R7637:Fam8a1 UTSW 13 46671247 missense probably benign 0.02
R8345:Fam8a1 UTSW 13 46673578 missense probably damaging 1.00
Posted On2013-04-17