Incidental Mutation 'IGL00648:Fam3b'
ID 10322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam3b
Ensembl Gene ENSMUSG00000022938
Gene Name FAM3 metabolism regulating signaling molecule B
Synonyms 9030624C24Rik, ORF9, D16Jhu19e, Pander
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL00648
Quality Score
Status
Chromosome 16
Chromosomal Location 97272165-97306136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97279599 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D309
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: 38,206,969 (GRCm39) S398* probably null Het
Calr T A 8: 85,569,331 (GRCm39) probably benign Het
Cmah A T 13: 24,644,259 (GRCm39) K459* probably null Het
Edem1 T A 6: 108,828,168 (GRCm39) probably null Het
Elp4 A T 2: 105,672,711 (GRCm39) probably benign Het
Fmnl3 G A 15: 99,220,551 (GRCm39) T577I probably damaging Het
Nbea A G 3: 55,916,681 (GRCm39) S860P probably damaging Het
Nlrp1a T C 11: 70,983,783 (GRCm39) T1082A probably benign Het
Pbrm1 A T 14: 30,774,240 (GRCm39) I469F probably damaging Het
Ptprq G A 10: 107,482,577 (GRCm39) L999F probably benign Het
Taar6 C T 10: 23,861,406 (GRCm39) V47M probably benign Het
Tom1l2 T C 11: 60,151,942 (GRCm39) Y155C possibly damaging Het
Other mutations in Fam3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Fam3b APN 16 97,277,607 (GRCm39) missense probably benign 0.00
IGL02582:Fam3b APN 16 97,272,391 (GRCm39) nonsense probably null
R4393:Fam3b UTSW 16 97,282,986 (GRCm39) critical splice donor site probably null
R4394:Fam3b UTSW 16 97,282,986 (GRCm39) critical splice donor site probably null
R4395:Fam3b UTSW 16 97,282,986 (GRCm39) critical splice donor site probably null
R6115:Fam3b UTSW 16 97,276,568 (GRCm39) missense possibly damaging 0.47
R6388:Fam3b UTSW 16 97,279,591 (GRCm39) missense probably benign 0.23
R6500:Fam3b UTSW 16 97,302,101 (GRCm39) missense possibly damaging 0.78
R8031:Fam3b UTSW 16 97,283,052 (GRCm39) nonsense probably null
R8411:Fam3b UTSW 16 97,283,053 (GRCm39) missense probably benign 0.29
R8811:Fam3b UTSW 16 97,313,715 (GRCm39) intron probably benign
R8992:Fam3b UTSW 16 97,277,594 (GRCm39) missense probably damaging 0.97
R9128:Fam3b UTSW 16 97,302,200 (GRCm39) missense probably benign
R9220:Fam3b UTSW 16 97,302,111 (GRCm39) missense probably benign 0.02
Z1176:Fam3b UTSW 16 97,283,044 (GRCm39) missense probably damaging 1.00
Z1177:Fam3b UTSW 16 97,313,687 (GRCm39) missense probably benign 0.03
Posted On 2012-12-06