Incidental Mutation 'IGL00648:Fam3b'
ID10322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam3b
Ensembl Gene ENSMUSG00000022938
Gene Namefamily with sequence similarity 3, member B
SynonymsD16Jhu19e, 9030624C24Rik, ORF9, Pander
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL00648
Quality Score
Status
Chromosome16
Chromosomal Location97470965-97514816 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 97478399 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 110 (G110E)
Ref Sequence ENSEMBL: ENSMUSP00000155878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049721] [ENSMUST00000231414] [ENSMUST00000231641] [ENSMUST00000231999] [ENSMUST00000232018]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049721
AA Change: G99E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062006
Gene: ENSMUSG00000022938
AA Change: G99E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ILEI 107 200 3.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125475
Predicted Effect probably damaging
Transcript: ENSMUST00000231414
AA Change: G110E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000231641
Predicted Effect probably damaging
Transcript: ENSMUST00000231999
AA Change: G51E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000232018
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a deletion of this gene display elevated blood glucose in glucose tolerance tests and elevated blood insulin after glucose injection, probably due to impaired insulin clearance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cage1 G T 13: 38,022,993 S398* probably null Het
Calr T A 8: 84,842,702 probably benign Het
Cmah A T 13: 24,460,276 K459* probably null Het
Edem1 T A 6: 108,851,207 probably null Het
Elp4 A T 2: 105,842,366 probably benign Het
Fmnl3 G A 15: 99,322,670 T577I probably damaging Het
Nbea A G 3: 56,009,260 S860P probably damaging Het
Nlrp1a T C 11: 71,092,957 T1082A probably benign Het
Pbrm1 A T 14: 31,052,283 I469F probably damaging Het
Ptprq G A 10: 107,646,716 L999F probably benign Het
Taar6 C T 10: 23,985,508 V47M probably benign Het
Tom1l2 T C 11: 60,261,116 Y155C possibly damaging Het
Other mutations in Fam3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Fam3b APN 16 97476407 missense probably benign 0.00
IGL02582:Fam3b APN 16 97471191 nonsense probably null
R4393:Fam3b UTSW 16 97481786 critical splice donor site probably null
R4394:Fam3b UTSW 16 97481786 critical splice donor site probably null
R4395:Fam3b UTSW 16 97481786 critical splice donor site probably null
R6115:Fam3b UTSW 16 97475368 missense possibly damaging 0.47
R6388:Fam3b UTSW 16 97478391 missense probably benign 0.23
R6500:Fam3b UTSW 16 97500901 missense possibly damaging 0.78
R8031:Fam3b UTSW 16 97481852 nonsense probably null
R8411:Fam3b UTSW 16 97481853 missense probably benign 0.29
R8811:Fam3b UTSW 16 97512515 intron probably benign
Z1176:Fam3b UTSW 16 97481844 missense probably damaging 1.00
Z1177:Fam3b UTSW 16 97512487 missense probably benign 0.03
Posted On2012-12-06