Incidental Mutation 'IGL01082:Fam110b'
ID 50867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam110b
Ensembl Gene ENSMUSG00000049119
Gene Name family with sequence similarity 110, member B
Synonyms 1700012H17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # IGL01082
Quality Score
Status
Chromosome 4
Chromosomal Location 5644009-5801101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5799461 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000171403] [ENSMUST00000156582]
AlphaFold Q8C739
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000156582
SMART Domains Protein: ENSMUSP00000122351
Gene: ENSMUSG00000049119

DomainStartEndE-ValueType
Pfam:FAM110_N 11 87 4e-45 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: 71,353,273 (GRCm39) S723F probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Ccdc116 A G 16: 16,959,856 (GRCm39) S278P probably damaging Het
Cep152 A T 2: 125,411,465 (GRCm39) probably benign Het
Cftr T C 6: 18,226,102 (GRCm39) V350A probably damaging Het
Dsc2 A T 18: 20,176,849 (GRCm39) N399K probably damaging Het
Eif3d T C 15: 77,843,943 (GRCm39) T468A probably damaging Het
Flrt1 T C 19: 7,073,339 (GRCm39) T403A probably benign Het
H3c6 A G 13: 23,746,548 (GRCm39) probably benign Het
Ift140 T A 17: 25,267,429 (GRCm39) V609E possibly damaging Het
Klb G A 5: 65,533,283 (GRCm39) V531I possibly damaging Het
Krt73 T C 15: 101,707,372 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,859 (GRCm39) V539A probably benign Het
Myb A G 10: 21,028,843 (GRCm39) V85A probably damaging Het
Ndufs1 T C 1: 63,203,976 (GRCm39) E102G probably damaging Het
Nr5a2 C A 1: 136,773,206 (GRCm39) A499S probably benign Het
Opa1 A T 16: 29,436,933 (GRCm39) probably benign Het
Or14j5 T A 17: 38,161,514 (GRCm39) S10R probably benign Het
Or4a47 A T 2: 89,674,407 (GRCm39) probably benign Het
Or4c11b T C 2: 88,625,637 (GRCm39) F304L probably benign Het
Pcnx1 G A 12: 82,037,372 (GRCm39) E1877K possibly damaging Het
Sel1l A G 12: 91,778,682 (GRCm39) V711A probably benign Het
Slc22a16 A G 10: 40,449,860 (GRCm39) T120A probably benign Het
Slc26a1 G T 5: 108,819,744 (GRCm39) T485N possibly damaging Het
Sp100 T C 1: 85,597,741 (GRCm39) V201A possibly damaging Het
Spz1 T G 13: 92,712,029 (GRCm39) K149T probably damaging Het
Stxbp5l A G 16: 37,024,940 (GRCm39) S553P possibly damaging Het
Szt2 A G 4: 118,254,821 (GRCm39) S290P probably damaging Het
Tbc1d10c A G 19: 4,239,026 (GRCm39) Y165H probably damaging Het
Tnxb C A 17: 34,933,584 (GRCm39) Q2335K probably damaging Het
Trim33 T C 3: 103,234,175 (GRCm39) I471T possibly damaging Het
Vsig10 A G 5: 117,472,970 (GRCm39) I188V probably benign Het
Zfp109 A T 7: 23,933,784 (GRCm39) L45Q probably damaging Het
Other mutations in Fam110b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01981:Fam110b APN 4 5,799,481 (GRCm39) missense probably benign 0.00
IGL03022:Fam110b APN 4 5,799,448 (GRCm39) missense probably benign 0.00
R1033:Fam110b UTSW 4 5,799,440 (GRCm39) missense probably benign 0.06
R1127:Fam110b UTSW 4 5,799,434 (GRCm39) missense probably damaging 1.00
R1525:Fam110b UTSW 4 5,799,578 (GRCm39) missense possibly damaging 0.90
R1824:Fam110b UTSW 4 5,799,029 (GRCm39) missense probably benign 0.01
R1894:Fam110b UTSW 4 5,798,840 (GRCm39) missense probably damaging 0.99
R2032:Fam110b UTSW 4 5,799,460 (GRCm39) missense probably benign 0.09
R4471:Fam110b UTSW 4 5,799,092 (GRCm39) missense probably benign
R5436:Fam110b UTSW 4 5,799,104 (GRCm39) missense probably benign 0.45
R5640:Fam110b UTSW 4 5,798,689 (GRCm39) missense probably damaging 1.00
R7291:Fam110b UTSW 4 5,798,895 (GRCm39) missense probably benign 0.03
R8037:Fam110b UTSW 4 5,799,511 (GRCm39) missense possibly damaging 0.94
R8515:Fam110b UTSW 4 5,799,380 (GRCm39) missense probably benign 0.00
R8873:Fam110b UTSW 4 5,799,103 (GRCm39) nonsense probably null
R9557:Fam110b UTSW 4 5,799,064 (GRCm39) missense probably damaging 1.00
R9740:Fam110b UTSW 4 5,799,070 (GRCm39) missense probably benign 0.06
Posted On 2013-06-21