Incidental Mutation 'IGL01958:Fam3c'
ID181445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam3c
Ensembl Gene ENSMUSG00000029672
Gene Namefamily with sequence similarity 3, member C
SynonymsFam3c, D6Wsu176e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL01958
Quality Score
Status
Chromosome6
Chromosomal Location22306520-22356243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 22318955 bp
ZygosityHeterozygous
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]
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

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: T169I

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

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 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

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
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: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Fam3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Fam3c APN 6 22318948 missense probably damaging 1.00
IGL02017:Fam3c APN 6 22343277 start codon destroyed probably null 0.66
PIT4812001:Fam3c UTSW 6 22321370 missense probably damaging 1.00
R1829:Fam3c UTSW 6 22309437 missense probably damaging 1.00
R2024:Fam3c UTSW 6 22329593 missense probably benign 0.33
R2884:Fam3c UTSW 6 22329582 missense probably damaging 0.98
R5481:Fam3c UTSW 6 22321358 missense probably benign 0.30
R5662:Fam3c UTSW 6 22355062 intron probably benign
R5911:Fam3c UTSW 6 22328561 missense probably damaging 1.00
R5911:Fam3c UTSW 6 22339300 missense probably benign 0.00
R6575:Fam3c UTSW 6 22329608 missense probably damaging 1.00
R6687:Fam3c UTSW 6 22328670 missense probably benign 0.03
R6982:Fam3c UTSW 6 22322301 missense probably damaging 1.00
R7570:Fam3c UTSW 6 22326405 intron probably benign
R7777:Fam3c UTSW 6 22328574 missense probably benign 0.19
R7994:Fam3c UTSW 6 22308460 missense probably damaging 0.98
R8082:Fam3c UTSW 6 22343304 missense unknown
R8254:Fam3c UTSW 6 22328676 missense possibly damaging 0.88
Posted On2014-05-07