Incidental Mutation 'R6388:Fam3b'
Institutional Source Beutler Lab
Gene Symbol Fam3b
Ensembl Gene ENSMUSG00000022938
Gene Namefamily with sequence similarity 3, member B
SynonymsD16Jhu19e, 9030624C24Rik, ORF9, Pander
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R6388 (G1)
Quality Score225.009
Status Validated
Chromosomal Location97470965-97514816 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97478391 bp
Amino Acid Change Threonine to Alanine at position 113 (T113A)
Ref Sequence ENSEMBL: ENSMUSP00000155878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049721] [ENSMUST00000231414] [ENSMUST00000231641] [ENSMUST00000231999] [ENSMUST00000232018]
Predicted Effect probably benign
Transcript: ENSMUST00000049721
AA Change: T102A

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000062006
Gene: ENSMUSG00000022938
AA Change: T102A

transmembrane domain 7 29 N/A INTRINSIC
Pfam:ILEI 107 200 3.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125475
Predicted Effect probably benign
Transcript: ENSMUST00000231414
AA Change: T113A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231641
Predicted Effect probably benign
Transcript: ENSMUST00000231999
AA Change: T54A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000232018
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 100% (35/35)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,262,111 R560W probably benign Het
Abi3 A G 11: 95,833,638 probably null Het
Ap1b1 T C 11: 5,026,319 I449T probably damaging Het
Atpaf2 C A 11: 60,417,007 probably benign Het
Car5a T C 8: 121,927,171 Y118C probably damaging Het
Ccdc18 A G 5: 108,201,348 D1002G possibly damaging Het
Ciao1 A T 2: 127,246,476 C142* probably null Het
Clec14a A G 12: 58,267,457 *460R probably null Het
Defb30 T A 14: 63,049,764 probably benign Het
Dnah10 A G 5: 124,829,646 K4247R probably benign Het
Eif5b G A 1: 38,019,000 A128T unknown Het
Fam98c C T 7: 29,155,303 R126Q probably damaging Het
Fastkd3 C T 13: 68,590,200 L623F probably damaging Het
Golga1 T C 2: 39,023,171 D543G probably benign Het
Gpatch8 A T 11: 102,478,488 V1408E probably damaging Het
Icosl T A 10: 78,069,532 L3Q possibly damaging Homo
Igf2r A G 17: 12,683,900 V2421A probably benign Het
Iglon5 T C 7: 43,478,132 T165A possibly damaging Het
Map3k11 A G 19: 5,690,251 E2G probably damaging Het
Nipbl A T 15: 8,300,784 C2386S probably damaging Het
Nos1 A G 5: 117,914,436 E837G possibly damaging Het
Npc1l1 T C 11: 6,224,145 E720G probably damaging Het
Olfr395 A G 11: 73,907,292 S67P probably damaging Het
Pla1a T A 16: 38,397,472 M385L probably benign Het
Ppp1r32 A G 19: 10,482,301 V14A probably damaging Het
Setdb2 T C 14: 59,424,697 T82A probably benign Het
Smarcd3 A G 5: 24,596,026 F128L possibly damaging Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Syvn1 T A 19: 6,052,351 V483E probably damaging Het
Timm22 G A 11: 76,407,119 V19I probably benign Het
Ttn C A 2: 76,790,845 D15716Y probably damaging Het
Ube3a C T 7: 59,304,921 probably null Het
Ugp2 A G 11: 21,322,051 probably null Het
Vmn1r13 T A 6: 57,209,918 F21I probably benign Het
Vps13d T C 4: 145,155,574 S1150G probably benign Het
Zp3 T C 5: 135,982,694 V122A probably benign Het
Other mutations in Fam3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Fam3b APN 16 97478399 missense probably damaging 0.99
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
R6500:Fam3b UTSW 16 97500901 missense possibly damaging 0.78
R8031:Fam3b UTSW 16 97481852 nonsense probably null
Z1176:Fam3b UTSW 16 97481844 missense probably damaging 1.00
Z1177:Fam3b UTSW 16 97512487 missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-05-04