Incidental Mutation 'IGL02670:Fam8a1'
List |< first << previous [record 9 of 28] next >> last >|
ID302904
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: 0.101) question?
Stock #IGL02670
Quality Score
Status
Chromosome13
Chromosomal Location46669522-46678056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46673604 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 284 (M284V)
Ref Sequence ENSEMBL: ENSMUSP00000097144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099547]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099547
AA Change: M284V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237
AA Change: M284V

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
4932438A13Rik C T 3: 36,967,305 Q2193* probably null Het
Asb1 T C 1: 91,546,918 probably benign Het
Cnot6 G A 11: 49,685,114 Q178* probably null Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp27b1 T C 10: 127,050,358 S303P probably benign Het
Dnah5 T C 15: 28,409,296 L3620P probably damaging Het
Dock7 A T 4: 98,966,286 probably null Het
Fam161b T C 12: 84,357,594 D104G probably benign Het
Fkbp3 T A 12: 65,069,103 K65* probably null Het
Gatb A G 3: 85,613,551 probably null Het
Gm572 A T 4: 148,651,228 H38L probably benign Het
Gm6576 A C 15: 27,025,512 noncoding transcript Het
L2hgdh G A 12: 69,692,480 R406W possibly damaging Het
Lmo7 A T 14: 101,880,980 T214S probably damaging Het
Map3k12 T C 15: 102,503,546 H361R probably benign Het
Mios T C 6: 8,235,378 probably benign Het
Mta1 T C 12: 113,130,121 L315P probably damaging Het
Pask A C 1: 93,310,818 V1315G probably damaging Het
Pias4 A T 10: 81,164,070 C50S probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sgk1 T A 10: 21,928,546 C92S probably benign Het
Slc2a13 C T 15: 91,497,509 G259E probably damaging Het
Slc5a4b A G 10: 76,075,100 C301R probably damaging Het
Sstr4 G T 2: 148,396,533 G355* probably null Het
Tnrc6a T A 7: 123,171,312 L775Q possibly damaging Het
Vmn1r218 A G 13: 23,137,004 I94V probably benign Het
Xpa A G 4: 46,185,682 F99L probably benign Het
Other mutations in Fam8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Fam8a1 APN 13 46673671 critical splice donor site probably null
IGL02067:Fam8a1 APN 13 46669848 missense possibly damaging 0.49
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