Incidental Mutation 'R9477:Fam3c'
ID 715852
Institutional Source Beutler Lab
Gene Symbol Fam3c
Ensembl Gene ENSMUSG00000029672
Gene Name FAM3 metabolism regulating signaling molecule C
Synonyms Ilei, Fam3c, D6Wsu176e
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R9477 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 22306519-22356080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22308479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 238 (M238K)
Ref Sequence ENSEMBL: ENSMUSP00000127559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081288] [ENSMUST00000163371] [ENSMUST00000163963] [ENSMUST00000165576]
AlphaFold Q91VU0
Predicted Effect probably damaging
Transcript: ENSMUST00000081288
AA Change: M188K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: M188K

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 damaging
Transcript: ENSMUST00000163963
AA Change: M238K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: M238K

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:ILEI 122 214 1.9e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165576
AA Change: M218K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: M218K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 224 4e-44 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A T 1: 89,765,485 (GRCm39) M618L probably benign Het
Anxa2r2 A T 13: 120,488,282 (GRCm39) I89N probably damaging Het
App C A 16: 84,853,392 (GRCm39) A229S unknown Het
B020011L13Rik G T 1: 117,728,903 (GRCm39) E137* probably null Het
BC034090 C T 1: 155,102,087 (GRCm39) G59E probably damaging Het
C1ra A G 6: 124,499,455 (GRCm39) D547G probably benign Het
Cdh2 A T 18: 16,755,212 (GRCm39) D774E probably damaging Het
Cdon A G 9: 35,403,201 (GRCm39) N1104D probably damaging Het
Cecr2 G A 6: 120,720,743 (GRCm39) probably null Het
Ces2b A T 8: 105,560,556 (GRCm39) N124Y probably damaging Het
Cfap61 A G 2: 145,985,032 (GRCm39) T959A probably benign Het
Chaf1a A T 17: 56,369,244 (GRCm39) K492* probably null Het
Clec14a A G 12: 58,314,620 (GRCm39) V334A probably benign Het
Col6a3 A G 1: 90,706,621 (GRCm39) I2771T unknown Het
Creb3 T C 4: 43,566,298 (GRCm39) L244P probably damaging Het
Crispld1 T C 1: 17,816,956 (GRCm39) V171A probably benign Het
Crmp1 T C 5: 37,446,182 (GRCm39) Y613H probably damaging Het
Csrnp3 G A 2: 65,852,819 (GRCm39) V416I probably benign Het
Dhrs1 A G 14: 55,976,868 (GRCm39) V272A probably benign Het
Dip2b T C 15: 99,936,784 (GRCm39) S32P probably damaging Het
Dpp10 G T 1: 123,304,370 (GRCm39) T510K possibly damaging Het
Dst A G 1: 34,205,292 (GRCm39) Y820C probably damaging Het
Efcab3 A T 11: 104,836,698 (GRCm39) H3562L unknown Het
Fcgbpl1 T C 7: 27,852,265 (GRCm39) F1263L probably damaging Het
Fcrl2 A T 3: 87,159,803 (GRCm39) C484S probably damaging Het
Fsd1 T C 17: 56,295,720 (GRCm39) L97P possibly damaging Het
Gapdhs T C 7: 30,431,682 (GRCm39) I310V probably damaging Het
Gimap4 A T 6: 48,667,314 (GRCm39) N23I probably benign Het
Gpr21 T A 2: 37,408,386 (GRCm39) F311I probably damaging Het
Grm1 T C 10: 10,595,405 (GRCm39) E741G probably benign Het
Gsto2 G A 19: 47,864,911 (GRCm39) R148H probably benign Het
Gzmd A G 14: 56,368,813 (GRCm39) V27A probably benign Het
Hbp1 A G 12: 31,980,766 (GRCm39) C446R probably damaging Het
Hmcn2 A T 2: 31,286,031 (GRCm39) probably null Het
Ifi205 G A 1: 173,854,155 (GRCm39) T166I probably benign Het
Il23a T A 10: 128,133,922 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jag1 A T 2: 136,936,409 (GRCm39) C362S probably damaging Het
Jmjd1c A T 10: 66,993,734 (GRCm39) R72* probably null Het
Kcna6 A G 6: 126,716,361 (GRCm39) I176T probably damaging Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Mast1 T C 8: 85,638,779 (GRCm39) K1517E probably benign Het
Mbnl1 A G 3: 60,520,769 (GRCm39) D119G probably damaging Het
Mfsd8 A G 3: 40,785,057 (GRCm39) probably null Het
Mtus2 T G 5: 148,014,740 (GRCm39) V511G probably benign Het
Myot A C 18: 44,470,333 (GRCm39) Q103H probably benign Het
Nrip2 G A 6: 128,377,145 (GRCm39) D24N probably benign Het
Ntm T A 9: 29,322,922 (GRCm39) S33C probably benign Het
Nus1 C T 10: 52,294,001 (GRCm39) T55M possibly damaging Het
Or4c112 G A 2: 88,853,615 (GRCm39) T244I probably benign Het
Pik3cb C T 9: 98,922,973 (GRCm39) probably null Het
Pogk T C 1: 166,227,404 (GRCm39) N249S probably damaging Het
Pou1f1 C T 16: 65,320,503 (GRCm39) T66I possibly damaging Het
Ppp1r42 T G 1: 10,055,854 (GRCm39) K211N probably damaging Het
Ppp2r3d C A 9: 124,476,857 (GRCm38) D2Y Het
Prdm5 A T 6: 65,771,342 (GRCm39) N51I possibly damaging Het
Rif1 G A 2: 52,001,342 (GRCm39) A1599T probably benign Het
Sema3c G A 5: 17,921,981 (GRCm39) A520T Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Spice1 T A 16: 44,197,183 (GRCm39) N489K possibly damaging Het
Sptbn4 A G 7: 27,132,624 (GRCm39) M116T possibly damaging Het
Supt5 T A 7: 28,025,500 (GRCm39) N249Y probably damaging Het
Tex2 A G 11: 106,410,706 (GRCm39) probably null Het
Trhde T A 10: 114,338,980 (GRCm39) E610V probably benign Het
Trmt12 T C 15: 58,745,471 (GRCm39) S290P possibly damaging Het
Trpm2 C T 10: 77,747,224 (GRCm39) V1425M probably benign Het
Uaca T C 9: 60,778,108 (GRCm39) S832P probably benign Het
Vcan T A 13: 89,841,128 (GRCm39) D1472V probably damaging Het
Virma A G 4: 11,528,753 (GRCm39) E1330G probably damaging Het
Vmn1r125 T G 7: 21,006,261 (GRCm39) V53G possibly damaging Het
Vmn2r27 A T 6: 124,168,910 (GRCm39) I740N probably damaging Het
Vmn2r70 C T 7: 85,218,244 (GRCm39) C18Y possibly damaging Het
Zfp35 A G 18: 24,136,188 (GRCm39) I177M possibly damaging Het
Zfp532 T C 18: 65,777,428 (GRCm39) I895T probably benign Het
Zfp58 C A 13: 67,640,158 (GRCm39) C111F 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
R5481:Fam3c UTSW 6 22,321,357 (GRCm39) missense probably benign 0.30
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
Predicted Primers PCR Primer
(F):5'- ATCCTGGAATCGACAGAGACGG -3'
(R):5'- ATAGCTCCTTGTCCCTAAGGG -3'

Sequencing Primer
(F):5'- AATCGACAGAGACGGTCTTGCTC -3'
(R):5'- GGGTCATCCATTTAACATCTTGAGTC -3'
Posted On 2022-06-15