Incidental Mutation 'R5481:Fam3c'
ID 434322
Institutional Source Beutler Lab
Gene Symbol Fam3c
Ensembl Gene ENSMUSG00000029672
Gene Name FAM3 metabolism regulating signaling molecule C
Synonyms Ilei, Fam3c, D6Wsu176e
MMRRC Submission 043042-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R5481 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 22306519-22356080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22321357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 138 (D138G)
Ref Sequence ENSEMBL: ENSMUSP00000127559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081288] [ENSMUST00000163371] [ENSMUST00000163963] [ENSMUST00000165576] [ENSMUST00000168965]
AlphaFold Q91VU0
Predicted Effect probably benign
Transcript: ENSMUST00000081288
AA Change: D88G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: D88G

DomainStartEndE-ValueType
PDB:2YOP|C 18 194 9e-45 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000163371
SMART Domains Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163963
AA Change: D138G

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: D138G

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:ILEI 122 214 1.9e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164669
SMART Domains Protein: ENSMUSP00000132380
Gene: ENSMUSG00000029672

DomainStartEndE-ValueType
PDB:2YOP|C 1 152 2e-38 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000165576
AA Change: D118G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: D118G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 224 4e-44 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168965
SMART Domains Protein: ENSMUSP00000128135
Gene: ENSMUSG00000029672

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 110 6e-10 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 95.1%
  • 20x: 90.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out or gene trap allele exhibit normal skeletal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,362,759 (GRCm39) S187P probably damaging Het
Aass C A 6: 23,113,475 (GRCm39) V282L probably benign Het
Adh6a G T 3: 138,031,719 (GRCm39) V204F probably damaging Het
Adrm1b A G 3: 92,336,658 (GRCm39) S15P possibly damaging Het
Aspm A G 1: 139,384,799 (GRCm39) K148E possibly damaging Het
Atp12a A T 14: 56,610,846 (GRCm39) D330V possibly damaging Het
Barhl1 A G 2: 28,805,352 (GRCm39) Y114H probably damaging Het
BC106179 T A 16: 23,042,918 (GRCm39) probably benign Het
Cabin1 A G 10: 75,570,900 (GRCm39) L792P probably benign Het
Calcoco2 A G 11: 95,998,369 (GRCm39) V18A probably damaging Het
Chpf2 A T 5: 24,794,340 (GRCm39) H170L probably damaging Het
Chrna1 T A 2: 73,397,270 (GRCm39) I340F possibly damaging Het
Ckap5 A T 2: 91,402,792 (GRCm39) I690F possibly damaging Het
Col10a1 A G 10: 34,271,660 (GRCm39) H544R probably benign Het
Cyp2b19 A C 7: 26,466,246 (GRCm39) T350P probably damaging Het
Dgkq A G 5: 108,796,676 (GRCm39) probably null Het
Dnah1 A G 14: 31,030,828 (GRCm39) V443A possibly damaging Het
Erbb3 T C 10: 128,408,349 (GRCm39) D855G probably damaging Het
Fen1 A G 19: 10,178,022 (GRCm39) C141R probably damaging Het
Flnc G A 6: 29,441,216 (GRCm39) G390D probably damaging Het
Fnip1 C A 11: 54,393,470 (GRCm39) D635E probably benign Het
Fry A T 5: 150,183,784 (GRCm39) L17F probably benign Het
Fsip2 T C 2: 82,810,230 (GRCm39) I2183T probably benign Het
Gfpt1 T A 6: 87,027,951 (GRCm39) I19N probably damaging Het
Hus1b T C 13: 31,130,942 (GRCm39) D239G probably benign Het
Kif1a T C 1: 92,987,966 (GRCm39) K546R probably benign Het
Kmt2d A G 15: 98,759,886 (GRCm39) V1124A unknown Het
Krtap16-1 A G 11: 99,876,153 (GRCm39) I417T probably damaging Het
Manba A T 3: 135,230,317 (GRCm39) N297Y possibly damaging Het
Mblac1 A G 5: 138,193,078 (GRCm39) D140G probably damaging Het
Mlh1 T C 9: 111,058,905 (GRCm39) probably null Het
Morc1 T A 16: 48,381,848 (GRCm39) probably null Het
Morc3 C A 16: 93,659,543 (GRCm39) P449Q probably damaging Het
Mtr T C 13: 12,203,041 (GRCm39) probably null Het
Mylk T A 16: 34,741,974 (GRCm39) C829S probably benign Het
Myo1d A G 11: 80,553,921 (GRCm39) I520T possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nos1 A T 5: 118,005,819 (GRCm39) I180F probably benign Het
Ntsr1 C T 2: 180,183,313 (GRCm39) T341M possibly damaging Het
Or8b51 A T 9: 38,568,916 (GRCm39) F257L probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Peli2 C A 14: 48,490,090 (GRCm39) N136K probably damaging Het
Pigt C A 2: 164,348,342 (GRCm39) P429H probably damaging Het
Pik3r2 T C 8: 71,222,408 (GRCm39) I515V probably benign Het
Pkhd1l1 A G 15: 44,422,042 (GRCm39) Y3104C probably damaging Het
Ppp1r16a A C 15: 76,575,221 (GRCm39) E43A probably damaging Het
Ptpn18 T C 1: 34,510,744 (GRCm39) L260P possibly damaging Het
Scaf11 A T 15: 96,318,498 (GRCm39) S355R probably damaging Het
Sema4a A T 3: 88,360,347 (GRCm39) Y77* probably null Het
Serpinb9b T C 13: 33,222,076 (GRCm39) V230A possibly damaging Het
Sfswap T A 5: 129,591,882 (GRCm39) S300T probably damaging Het
Slc22a30 T C 19: 8,314,201 (GRCm39) N495S probably benign Het
Srcap G A 7: 127,131,369 (GRCm39) G836D probably damaging Het
Stard4 A C 18: 33,338,298 (GRCm39) C137W probably benign Het
Stat6 A G 10: 127,483,695 (GRCm39) probably null Het
Steap3 T C 1: 120,169,454 (GRCm39) D243G probably benign Het
Taf1c A G 8: 120,325,979 (GRCm39) S628P probably damaging Het
Unkl C T 17: 25,420,146 (GRCm39) Q13* probably null Het
Usp38 A G 8: 81,719,952 (GRCm39) S426P possibly damaging Het
Vmn2r8 T C 5: 108,949,636 (GRCm39) T404A probably benign Het
Washc1 T C 17: 66,425,860 (GRCm39) V425A probably benign Het
Zfyve9 A G 4: 108,501,546 (GRCm39) I590T probably damaging Het
Other mutations in Fam3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Fam3c APN 6 22,318,947 (GRCm39) missense probably damaging 1.00
IGL01958:Fam3c APN 6 22,318,954 (GRCm39) missense probably damaging 1.00
IGL02017:Fam3c APN 6 22,343,276 (GRCm39) start codon destroyed probably null 0.66
PIT4812001:Fam3c UTSW 6 22,321,369 (GRCm39) missense probably damaging 1.00
R1829:Fam3c UTSW 6 22,309,436 (GRCm39) missense probably damaging 1.00
R2024:Fam3c UTSW 6 22,329,592 (GRCm39) missense probably benign 0.33
R2884:Fam3c UTSW 6 22,329,581 (GRCm39) missense probably damaging 0.98
R5662:Fam3c UTSW 6 22,355,061 (GRCm39) intron probably benign
R5911:Fam3c UTSW 6 22,339,299 (GRCm39) missense probably benign 0.00
R5911:Fam3c UTSW 6 22,328,560 (GRCm39) missense probably damaging 1.00
R6575:Fam3c UTSW 6 22,329,607 (GRCm39) missense probably damaging 1.00
R6687:Fam3c UTSW 6 22,328,669 (GRCm39) missense probably benign 0.03
R6982:Fam3c UTSW 6 22,322,300 (GRCm39) missense probably damaging 1.00
R7570:Fam3c UTSW 6 22,326,404 (GRCm39) intron probably benign
R7777:Fam3c UTSW 6 22,328,573 (GRCm39) missense probably benign 0.19
R7994:Fam3c UTSW 6 22,308,459 (GRCm39) missense probably damaging 0.98
R8082:Fam3c UTSW 6 22,343,303 (GRCm39) missense unknown
R8254:Fam3c UTSW 6 22,328,675 (GRCm39) missense possibly damaging 0.88
R9477:Fam3c UTSW 6 22,308,479 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTTCCTGCAATAACCAATCTG -3'
(R):5'- GATGATGGCCCCACATGAAAC -3'

Sequencing Primer
(F):5'- TGCAATAACCAATCTGCATGCAATG -3'
(R):5'- GCCCCACATGAAACTGAAGTGTAG -3'
Posted On 2016-10-06