Incidental Mutation 'R4394:Fam3b'
ID 326562
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 041683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R4394 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 97272165-97306136 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 97282986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049721] [ENSMUST00000049721] [ENSMUST00000231414] [ENSMUST00000231414] [ENSMUST00000231641] [ENSMUST00000231999] [ENSMUST00000231999] [ENSMUST00000232018] [ENSMUST00000232018]
AlphaFold Q9D309
Predicted Effect probably null
Transcript: ENSMUST00000049721
SMART Domains Protein: ENSMUSP00000062006
Gene: ENSMUSG00000022938

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ILEI 107 200 3.6e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000049721
SMART Domains Protein: ENSMUSP00000062006
Gene: ENSMUSG00000022938

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ILEI 107 200 3.6e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000231414
Predicted Effect probably null
Transcript: ENSMUST00000231414
Predicted Effect probably benign
Transcript: ENSMUST00000231641
Predicted Effect probably null
Transcript: ENSMUST00000231999
Predicted Effect probably null
Transcript: ENSMUST00000231999
Predicted Effect probably null
Transcript: ENSMUST00000232018
Predicted Effect probably null
Transcript: ENSMUST00000232018
Meta Mutation Damage Score 0.9481 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,813,566 (GRCm39) F391L probably damaging Het
AC140205.10 C A 8: 21,323,181 (GRCm39) T192K probably benign Het
Arid4b T A 13: 14,329,557 (GRCm39) probably null Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Brip1 A T 11: 85,965,124 (GRCm39) N855K possibly damaging Het
Ces2f A G 8: 105,677,586 (GRCm39) N197S probably damaging Het
Chd4 A G 6: 125,098,581 (GRCm39) T1520A probably damaging Het
Cltc A C 11: 86,624,456 (GRCm39) N159K probably damaging Het
Cntn1 C T 15: 92,189,645 (GRCm39) T656I probably damaging Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Dzip1l T A 9: 99,521,907 (GRCm39) L181H probably damaging Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fat3 A G 9: 15,834,088 (GRCm39) I4168T probably benign Het
Fbxw20 T C 9: 109,061,398 (GRCm39) D117G probably benign Het
Gm8122 A G 14: 43,091,525 (GRCm39) L81P unknown Het
Hal T C 10: 93,332,421 (GRCm39) probably benign Het
Hgf T A 5: 16,823,949 (GRCm39) Y715* probably null Het
Hid1 T A 11: 115,258,468 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Jrkl G A 9: 13,245,146 (GRCm39) Q172* probably null Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Lman2l A C 1: 36,478,804 (GRCm39) C103G probably damaging Het
Lrfn5 T C 12: 61,890,276 (GRCm39) S522P probably damaging Het
Mark3 A T 12: 111,570,957 (GRCm39) I86L possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mgst2 G A 3: 51,571,949 (GRCm39) V26I probably damaging Het
Neb A T 2: 52,077,525 (GRCm39) Y158* probably null Het
Nipbl T C 15: 8,391,345 (GRCm39) I210V probably benign Het
Or7g18 A T 9: 18,786,907 (GRCm39) I95L probably damaging Het
Or8j3b C T 2: 86,205,523 (GRCm39) A78T possibly damaging Het
Pcdhb8 C T 18: 37,489,935 (GRCm39) P538S probably damaging Het
Postn A G 3: 54,278,376 (GRCm39) D295G probably damaging Het
Prss38 T C 11: 59,263,854 (GRCm39) Y286C probably damaging Het
Psen2 A T 1: 180,068,347 (GRCm39) V102E probably damaging Het
Ptpn9 A T 9: 56,943,847 (GRCm39) K126N possibly damaging Het
Ptprd A G 4: 76,046,922 (GRCm39) I435T probably damaging Het
Rab39 T C 9: 53,597,950 (GRCm39) K105R probably benign Het
Robo2 C A 16: 73,745,267 (GRCm39) R840L probably benign Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Ryr1 G T 7: 28,793,667 (GRCm39) T1267K possibly damaging Het
Sis G A 3: 72,863,482 (GRCm39) T252I probably damaging Het
Slc41a3 A T 6: 90,612,312 (GRCm39) S201C probably damaging Het
Slitrk1 A C 14: 109,148,735 (GRCm39) S659A probably benign Het
Snx25 A T 8: 46,488,715 (GRCm39) M880K probably damaging Het
Tbxas1 C T 6: 39,004,713 (GRCm39) T320I probably benign Het
Tex44 T C 1: 86,355,489 (GRCm39) V466A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Tpst1 T A 5: 130,131,343 (GRCm39) M271K probably benign Het
Trank1 C T 9: 111,194,265 (GRCm39) T763I possibly damaging Het
Trip12 A T 1: 84,703,462 (GRCm39) H729Q probably damaging Het
Tshz3 A T 7: 36,469,030 (GRCm39) T340S probably damaging Het
Ttc5 T C 14: 51,018,962 (GRCm39) K52E probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wsb2 T G 5: 117,501,643 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCAACTTGGAGAATCCTGTGC -3'
(R):5'- CTGTTACTACCAGTGGCCAC -3'

Sequencing Primer
(F):5'- AAAACCTGGGTGGCTTCACTG -3'
(R):5'- GTGGCCACACAGCAGTCAC -3'
Posted On 2015-07-06