Incidental Mutation 'R5911:Fam3c'
ID 460989
Institutional Source Beutler Lab
Gene Symbol Fam3c
Ensembl Gene ENSMUSG00000029672
Gene Name FAM3 metabolism regulating signaling molecule C
Synonyms Ilei, Fam3c, D6Wsu176e
MMRRC Submission 044108-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R5911 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 22306519-22356080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22328560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 109 (D109G)
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: D59G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: D59G

DomainStartEndE-ValueType
PDB:2YOP|C 18 194 9e-45 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000163371
AA Change: D89G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672
AA Change: D89G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163963
AA Change: D109G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: D109G

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: D89G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: D89G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 224 4e-44 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168965
AA Change: D89G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128135
Gene: ENSMUSG00000029672
AA Change: D89G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PDB:2YOP|C 48 110 6e-10 PDB
Meta Mutation Damage Score 0.2035 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 92% (77/84)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik C T 3: 124,350,380 (GRCm39) probably benign Het
Acacb A T 5: 114,370,951 (GRCm39) D1731V probably damaging Het
Afg3l1 G A 8: 124,226,778 (GRCm39) V563I possibly damaging Het
Ak7 A G 12: 105,692,471 (GRCm39) E175G probably damaging Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arid4a A T 12: 71,116,747 (GRCm39) T602S probably damaging Het
Caps2 C T 10: 112,001,591 (GRCm39) probably benign Het
Ccdc170 G T 10: 4,508,551 (GRCm39) E592* probably null Het
Clasp1 C A 1: 118,434,638 (GRCm39) probably benign Het
Crhbp T A 13: 95,568,564 (GRCm39) M291L probably benign Het
Cyp3a41b T A 5: 145,519,349 (GRCm39) L47F probably benign Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Drc7 A G 8: 95,800,754 (GRCm39) E592G probably damaging Het
Dtl G A 1: 191,300,519 (GRCm39) T115I probably damaging Het
Ece2 A G 16: 20,457,510 (GRCm39) Y338C probably damaging Het
Egr3 A G 14: 70,316,897 (GRCm39) D198G probably damaging Het
Ereg A C 5: 91,222,552 (GRCm39) probably benign Het
Esp31 G C 17: 38,951,933 (GRCm39) probably null Het
Faap100 T C 11: 120,267,958 (GRCm39) I272V possibly damaging Het
Fcnb A T 2: 27,966,701 (GRCm39) N277K probably damaging Het
Fgfr1 A G 8: 26,009,325 (GRCm39) probably benign Het
Gpr158 T C 2: 21,373,932 (GRCm39) F289S possibly damaging Het
Grik4 C A 9: 42,502,720 (GRCm39) V468F probably damaging Het
Gtdc1 T A 2: 44,642,076 (GRCm39) R168S probably benign Het
Gucy2c C T 6: 136,699,440 (GRCm39) G610R probably damaging Het
Gulp1 A T 1: 44,793,534 (GRCm39) Q65L possibly damaging Het
Hectd1 A T 12: 51,849,035 (GRCm39) D356E probably damaging Het
Hnrnpu T C 1: 178,157,737 (GRCm39) probably benign Het
Igkv13-57-2 T C 6: 69,500,971 (GRCm39) noncoding transcript Het
Itih4 A G 14: 30,612,612 (GRCm39) I213V possibly damaging Het
Itpr2 T C 6: 146,214,441 (GRCm39) K1469E probably benign Het
Jkampl T C 6: 73,445,674 (GRCm39) T292A probably damaging Het
Jrk T C 15: 74,577,617 (GRCm39) D556G possibly damaging Het
Kctd16 A T 18: 40,663,905 (GRCm39) I345F probably benign Het
Klhdc1 A G 12: 69,303,025 (GRCm39) E187G possibly damaging Het
Lrch3 T C 16: 32,779,833 (GRCm39) Y111H probably damaging Het
Mlh3 A T 12: 85,315,229 (GRCm39) V319D probably damaging Het
Nsd3 T C 8: 26,156,092 (GRCm39) L553P probably damaging Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or51q1 A T 7: 103,628,915 (GRCm39) H172L probably benign Het
Or5d38 C T 2: 87,955,027 (GRCm39) V101I probably benign Het
Or5e1 T A 7: 108,354,882 (GRCm39) I273N probably benign Het
Or5p66 T A 7: 107,885,605 (GRCm39) T243S probably damaging Het
Or7g26 T C 9: 19,230,445 (GRCm39) I205T probably benign Het
Pelp1 C T 11: 70,287,740 (GRCm39) R394H probably damaging Het
Ppp1r13l G T 7: 19,109,817 (GRCm39) probably null Het
Prr5 C A 15: 84,585,635 (GRCm39) S201* probably null Het
Rad23b T A 4: 55,370,474 (GRCm39) probably null Het
Rasgef1a T A 6: 118,061,335 (GRCm39) probably null Het
Ryr3 A T 2: 112,738,832 (GRCm39) I565N probably damaging Het
Slc30a5 T C 13: 100,945,600 (GRCm39) N527S probably damaging Het
Slc39a5 T A 10: 128,235,812 (GRCm39) N49Y probably damaging Het
Spast T A 17: 74,694,058 (GRCm39) S571T probably benign Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tgm7 T A 2: 120,926,454 (GRCm39) D480V probably benign Het
Thpo T A 16: 20,547,546 (GRCm39) S22C probably null Het
Top2a T A 11: 98,907,291 (GRCm39) T180S possibly damaging Het
Trim37 T A 11: 87,087,663 (GRCm39) Y34* probably null Het
Tsc2 T C 17: 24,819,361 (GRCm39) E1254G possibly damaging Het
Ttc39a C T 4: 109,280,168 (GRCm39) P150L possibly damaging Het
Ttc4 T C 4: 106,525,240 (GRCm39) D298G probably damaging Het
Ttll1 A G 15: 83,386,482 (GRCm39) V41A probably benign Het
Vmn1r20 C A 6: 57,408,774 (GRCm39) H33Q probably benign Het
Zan A T 5: 137,456,174 (GRCm39) Y1329N unknown 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
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'- ACACAAAGTCAGATAAATGCAGGTCTC -3'
(R):5'- ATTAAAGAATGTGTGTCTCGCC -3'

Sequencing Primer
(F):5'- AAATGCAGGTCTCTTTGTCACAGG -3'
(R):5'- ATGGATGTATGCTCACCACG -3'
Posted On 2017-02-28