Incidental Mutation 'IGL02067:Fam8a1'
ID283329
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: 0.115) question?
Stock #IGL02067
Quality Score
Status
Chromosome13
Chromosomal Location46669522-46678056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 46669848 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 88 (R88L)
Ref Sequence ENSEMBL: ENSMUSP00000097144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099547]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099547
AA Change: R88L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237
AA Change: R88L

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
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Fam8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Fam8a1 APN 13 46673671 critical splice donor site probably null
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 On2015-04-16