Incidental Mutation 'IGL01082:Fam110b'
ID50867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam110b
Ensembl Gene ENSMUSG00000049119
Gene Namefamily with sequence similarity 110, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL01082
Quality Score
Status
Chromosome4
Chromosomal Location5644090-6108223 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5799461 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 293 (A293V)
Ref Sequence ENSEMBL: ENSMUSP00000127942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054857] [ENSMUST00000108380] [ENSMUST00000156582] [ENSMUST00000171403]
Predicted Effect possibly damaging
Transcript: ENSMUST00000054857
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062734
Gene: ENSMUSG00000049119
AA Change: A293V

DomainStartEndE-ValueType
Pfam:FAM110_N 11 118 1.6e-56 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 247 358 2.2e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108380
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104017
Gene: ENSMUSG00000049119
AA Change: A293V

DomainStartEndE-ValueType
Pfam:FAM110_N 13 118 4.8e-50 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 249 357 1.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145365
Predicted Effect probably benign
Transcript: ENSMUST00000156582
SMART Domains Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119

DomainStartEndE-ValueType
Pfam:FAM110_N 11 87 4e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171403
AA Change: A293V

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127942
Gene: ENSMUSG00000049119
AA Change: A293V

DomainStartEndE-ValueType
Pfam:FAM110_N 11 118 1.6e-56 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 215 233 N/A INTRINSIC
Pfam:FAM110_C 247 358 2.2e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,114 S723F probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Ccdc116 A G 16: 17,141,992 S278P probably damaging Het
Cep152 A T 2: 125,569,545 probably benign Het
Cftr T C 6: 18,226,103 V350A probably damaging Het
Dsc2 A T 18: 20,043,792 N399K probably damaging Het
Eif3d T C 15: 77,959,743 T468A probably damaging Het
Flrt1 T C 19: 7,095,974 T403A probably benign Het
Hist1h3e A G 13: 23,562,374 probably benign Het
Ift140 T A 17: 25,048,455 V609E possibly damaging Het
Klb G A 5: 65,375,940 V531I possibly damaging Het
Krt73 T C 15: 101,798,937 probably null Het
Mcm2 A G 6: 88,887,877 V539A probably benign Het
Myb A G 10: 21,152,944 V85A probably damaging Het
Ndufs1 T C 1: 63,164,817 E102G probably damaging Het
Nr5a2 C A 1: 136,845,468 A499S probably benign Het
Olfr1201 T C 2: 88,795,293 F304L probably benign Het
Olfr1256 A T 2: 89,844,063 probably benign Het
Olfr126 T A 17: 37,850,623 S10R probably benign Het
Opa1 A T 16: 29,618,115 probably benign Het
Pcnx G A 12: 81,990,598 E1877K possibly damaging Het
Sel1l A G 12: 91,811,908 V711A probably benign Het
Slc22a16 A G 10: 40,573,864 T120A probably benign Het
Slc26a1 G T 5: 108,671,878 T485N possibly damaging Het
Sp100 T C 1: 85,670,020 V201A possibly damaging Het
Spz1 T G 13: 92,575,521 K149T probably damaging Het
Stxbp5l A G 16: 37,204,578 S553P possibly damaging Het
Szt2 A G 4: 118,397,624 S290P probably damaging Het
Tbc1d10c A G 19: 4,189,027 Y165H probably damaging Het
Tnxb C A 17: 34,714,610 Q2335K probably damaging Het
Trim33 T C 3: 103,326,859 I471T possibly damaging Het
Vsig10 A G 5: 117,334,905 I188V probably benign Het
Zfp109 A T 7: 24,234,359 L45Q probably damaging Het
Other mutations in Fam110b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Fam110b APN 4 5799481 missense probably benign 0.00
IGL03022:Fam110b APN 4 5799448 missense probably benign 0.00
R1033:Fam110b UTSW 4 5799440 missense probably benign 0.06
R1127:Fam110b UTSW 4 5799434 missense probably damaging 1.00
R1525:Fam110b UTSW 4 5799578 missense possibly damaging 0.90
R1824:Fam110b UTSW 4 5799029 missense probably benign 0.01
R1894:Fam110b UTSW 4 5798840 missense probably damaging 0.99
R2032:Fam110b UTSW 4 5799460 missense probably benign 0.09
R4471:Fam110b UTSW 4 5799092 missense probably benign
R5436:Fam110b UTSW 4 5799104 missense probably benign 0.45
R5640:Fam110b UTSW 4 5798689 missense probably damaging 1.00
R7291:Fam110b UTSW 4 5798895 missense probably benign 0.03
R8037:Fam110b UTSW 4 5799511 missense possibly damaging 0.94
R8515:Fam110b UTSW 4 5799380 missense probably benign 0.00
Posted On2013-06-21