Incidental Mutation 'R8411:Fam3b'
ID 652705
Institutional Source Beutler Lab
Gene Symbol Fam3b
Ensembl Gene ENSMUSG00000022938
Gene Name FAM3 metabolism regulating signaling molecule B
Synonyms 9030624C24Rik, ORF9, D16Jhu19e, Pander
MMRRC Submission 067881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R8411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 97272165-97306136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97283053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 74 (Y74F)
Ref Sequence ENSEMBL: ENSMUSP00000062006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049721] [ENSMUST00000231414] [ENSMUST00000231641] [ENSMUST00000231999] [ENSMUST00000232018]
AlphaFold Q9D309
PDB Structure Long wavelength S-SAD structure of FAM3B PANDER [X-RAY DIFFRACTION]
Structure of FAM3B PANDER E30 construct [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000049721
AA Change: Y74F

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062006
Gene: ENSMUSG00000022938
AA Change: Y74F

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ILEI 107 200 3.6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231414
AA Change: Y85F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231641
Predicted Effect probably benign
Transcript: ENSMUST00000231999
AA Change: Y26F

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000232018
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,285,588 (GRCm39) S89P probably benign Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Adam18 A T 8: 25,142,143 (GRCm39) I211N probably damaging Het
Angpt1 T C 15: 42,290,430 (GRCm39) Y478C probably damaging Het
Apba2 A T 7: 64,386,674 (GRCm39) I434F probably damaging Het
Arfgef1 T A 1: 10,286,759 (GRCm39) K50N probably benign Het
Arfgef2 A T 2: 166,715,903 (GRCm39) Q1397H probably benign Het
Ascc2 G A 11: 4,597,208 (GRCm39) R129Q probably damaging Het
Atxn1 A G 13: 45,720,032 (GRCm39) V621A probably benign Het
Catsperz A T 19: 6,899,930 (GRCm39) L192M probably benign Het
Cd5 G A 19: 10,697,585 (GRCm39) P465S probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfap61 A G 2: 145,789,103 (GRCm39) E94G probably benign Het
Chd1 A G 17: 15,982,711 (GRCm39) H1392R probably damaging Het
Csnk1a1 A G 18: 61,688,888 (GRCm39) I23V probably benign Het
Ctnnd2 C T 15: 30,647,179 (GRCm39) R292C probably benign Het
Dcaf6 T A 1: 165,216,244 (GRCm39) H453L probably benign Het
Dnah3 C A 7: 119,610,253 (GRCm39) D1728Y probably damaging Het
Dtx3 T C 10: 127,028,693 (GRCm39) K179E possibly damaging Het
Gm5464 T C 14: 67,106,555 (GRCm39) L64P unknown Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Kcnh7 T A 2: 62,594,952 (GRCm39) H706L probably damaging Het
Kdm2b C T 5: 123,018,239 (GRCm39) R1067H probably damaging Het
Klhl28 A T 12: 64,996,864 (GRCm39) H492Q probably damaging Het
Loxl3 T A 6: 83,027,605 (GRCm39) C716S probably damaging Het
Ltbp2 A G 12: 84,833,187 (GRCm39) Y1474H probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Mmp24 G T 2: 155,655,935 (GRCm39) V458L probably benign Het
Mpl C A 4: 118,303,306 (GRCm39) S502I Het
Nfatc1 A T 18: 80,710,257 (GRCm39) V503D probably damaging Het
Nim1k A G 13: 120,175,807 (GRCm39) I133T possibly damaging Het
Nr1d2 T C 14: 18,215,031 (GRCm38) Y327C probably damaging Het
Oma1 C T 4: 103,186,113 (GRCm39) R360* probably null Het
Oog2 T A 4: 143,920,743 (GRCm39) W59R probably damaging Het
Or4c109 T C 2: 88,818,409 (GRCm39) T46A probably benign Het
Pcdh10 A G 3: 45,333,974 (GRCm39) E96G probably damaging Het
Pcna T A 2: 132,093,850 (GRCm39) T98S probably benign Het
Pcnx3 C T 19: 5,729,618 (GRCm39) C899Y possibly damaging Het
Phf11d T C 14: 59,593,883 (GRCm39) N97S probably benign Het
Plekhg4 G A 8: 106,103,961 (GRCm39) W431* probably null Het
Plk4 A G 3: 40,767,901 (GRCm39) T815A probably benign Het
Pnma2 C T 14: 67,153,762 (GRCm39) T62I possibly damaging Het
Ppp1r9a C T 6: 5,057,568 (GRCm39) R548W probably damaging Het
Ptx3 A G 3: 66,132,201 (GRCm39) S241G probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rplp0 A T 5: 115,698,823 (GRCm39) K26N probably damaging Het
Sec62 A C 3: 30,872,931 (GRCm39) E338A unknown Het
Sema6a T C 18: 47,382,022 (GRCm39) M842V probably benign Het
Serpina3j T C 12: 104,281,043 (GRCm39) V72A probably benign Het
Siglecf T C 7: 43,001,368 (GRCm39) F112S probably damaging Het
Slc29a4 A G 5: 142,705,880 (GRCm39) N455D probably damaging Het
Slc6a11 T A 6: 114,108,398 (GRCm39) F54Y probably benign Het
Spag6 G A 2: 18,715,394 (GRCm39) V80M probably damaging Het
Spic T C 10: 88,514,498 (GRCm39) E34G possibly damaging Het
Tecpr2 A G 12: 110,898,154 (GRCm39) K469E possibly damaging Het
Them7 T A 2: 105,128,190 (GRCm39) L57Q probably benign Het
Tlr3 G A 8: 45,849,978 (GRCm39) A897V probably damaging Het
Tnp2 A G 16: 10,606,372 (GRCm39) C32R possibly damaging Het
Trpm6 A T 19: 18,831,332 (GRCm39) Q1399L probably benign Het
Ttn C A 2: 76,677,015 (GRCm39) E11074* probably null Het
Ubash3b G A 9: 40,954,781 (GRCm39) A243V probably benign Het
Vash1 G A 12: 86,726,952 (GRCm39) R64Q possibly damaging Het
Vmn1r167 T A 7: 23,204,981 (GRCm39) M12L possibly damaging Het
Vmn2r111 T A 17: 22,767,562 (GRCm39) H645L probably benign Het
Vmn2r75 A T 7: 85,797,722 (GRCm39) I697K probably damaging Het
Vmn2r87 A G 10: 130,308,126 (GRCm39) I704T probably damaging Het
Other mutations in Fam3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Fam3b APN 16 97,279,599 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GAGTCTTAGCCTTGCCAGAG -3'
(R):5'- CAGGCGTGTGTCTTGAGAAG -3'

Sequencing Primer
(F):5'- CCTTGCCAGAGGTTAGGAACATAC -3'
(R):5'- TCTTGAGAAGAGTTCCCAGGATCC -3'
Posted On 2020-10-20