Incidental Mutation 'IGL01958:Fam3c'
ID 181445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam3c
Ensembl Gene ENSMUSG00000029672
Gene Name FAM3 metabolism regulating signaling molecule C
Synonyms Ilei, Fam3c, D6Wsu176e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # IGL01958
Quality Score
Chromosome 6
Chromosomal Location 22306519-22356080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22318954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 149 (T149I)
Ref Sequence ENSEMBL: ENSMUSP00000127709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081288] [ENSMUST00000163371] [ENSMUST00000163963] [ENSMUST00000165576] [ENSMUST00000168965]
AlphaFold Q91VU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000081288
AA Change: T119I

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: T119I

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

transmembrane domain 7 29 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163963
AA Change: T169I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: T169I

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

PDB:2YOP|C 1 152 2e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000165576
AA Change: T149I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: T149I

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

transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 110 6e-10 PDB
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Fam3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Fam3c APN 6 22,318,947 (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
R9477:Fam3c UTSW 6 22,308,479 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07