Incidental Mutation 'IGL02633:Fam206a'
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ID301405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam206a
Ensembl Gene ENSMUSG00000038827
Gene Namefamily with sequence similarity 206, member A
SynonymsBC026590
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02633
Quality Score
Status
Chromosome4
Chromosomal Location56802345-56809601 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56806131 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 181 (V181A)
Ref Sequence ENSEMBL: ENSMUSP00000047275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140] [ENSMUST00000045142] [ENSMUST00000045368] [ENSMUST00000131520] [ENSMUST00000147763]
Predicted Effect probably benign
Transcript: ENSMUST00000030140
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

DomainStartEndE-ValueType
Pfam:IKI3 1 955 N/A PFAM
low complexity region 1186 1205 N/A INTRINSIC
low complexity region 1210 1225 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045142
SMART Domains Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:Vinculin 30 309 7e-39 PFAM
Pfam:Vinculin 302 526 1.7e-12 PFAM
Pfam:Vinculin 531 683 5.3e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000045368
AA Change: V181A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047275
Gene: ENSMUSG00000038827
AA Change: V181A

DomainStartEndE-ValueType
Pfam:GCV_H 117 185 5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131520
Predicted Effect probably benign
Transcript: ENSMUST00000147763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152638
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Fam206a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2025:Fam206a UTSW 4 56805916 missense probably damaging 1.00
R2218:Fam206a UTSW 4 56802693 missense probably damaging 1.00
R7426:Fam206a UTSW 4 56804230 missense probably null 0.02
R7655:Fam206a UTSW 4 56804218 missense probably benign 0.02
R7656:Fam206a UTSW 4 56804218 missense probably benign 0.02
Posted On2015-04-16