Incidental Mutation 'R6936:Fgg'
ID 540281
Institutional Source Beutler Lab
Gene Symbol Fgg
Ensembl Gene ENSMUSG00000033860
Gene Name fibrinogen gamma chain
Synonyms 3010002H13Rik, gamma-fibrinogen
MMRRC Submission 045050-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R6936 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 82915031-82922356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82915727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 56 (S56F)
Ref Sequence ENSEMBL: ENSMUSP00000141648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048486] [ENSMUST00000194175]
AlphaFold Q8VCM7
Predicted Effect possibly damaging
Transcript: ENSMUST00000048486
AA Change: S56F

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: S56F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Fib_alpha 28 172 1.09e-72 SMART
FBG 173 414 6.77e-130 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194175
AA Change: S56F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: S56F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Fib_alpha 28 172 1.09e-72 SMART
FBG 173 414 6.77e-130 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: This gene encodes the gamma subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Mice lacking the encoded protein did not possess detectable amounts of plasma fibrinogen. Pregnant mice lacking the encoded protein die due to heavy bleeding during delivery. This gene is located adjacent to the genes encoding fibrinogen alpha and gamma subunits on chromosome 3. Alternate splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Pregnant homozygous null mice exhibit retarded embryo-placental development, spontaneous abortion, and maternal death through excessive uterine bleeding. Mutants expressing a truncated polypeptide show reduced platelet aggregation, increased bleeding time, and occasional fatal neonatal bleeding. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,568 (GRCm39) I2772F probably damaging Het
Adam1a A G 5: 121,657,425 (GRCm39) C623R probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ak4 C T 4: 101,304,456 (GRCm39) A82V probably benign Het
Arhgap10 A T 8: 78,037,376 (GRCm39) C617* probably null Het
Art1 A T 7: 101,755,977 (GRCm39) D56V possibly damaging Het
Ascc3 A G 10: 50,606,057 (GRCm39) D1392G probably damaging Het
Bbs5 T C 2: 69,484,698 (GRCm39) S123P probably damaging Het
Cabin1 A T 10: 75,551,592 (GRCm39) probably null Het
Carmil3 G A 14: 55,739,018 (GRCm39) E891K probably benign Het
Cbfa2t3 C G 8: 123,374,478 (GRCm39) R89P probably damaging Het
Ccdc157 A G 11: 4,094,030 (GRCm39) S534P probably benign Het
Cep72 A T 13: 74,188,206 (GRCm39) I229N probably damaging Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Cyp2c70 A G 19: 40,156,007 (GRCm39) V181A probably damaging Het
Cyp2d26 C T 15: 82,676,741 (GRCm39) D202N probably benign Het
Dbh A G 2: 27,062,809 (GRCm39) K343E probably benign Het
Dlx5 A G 6: 6,879,585 (GRCm39) Y161H probably damaging Het
Dnah5 A T 15: 28,409,414 (GRCm39) I3611F probably damaging Het
Egf A C 3: 129,474,853 (GRCm39) F563V possibly damaging Het
Enpp1 T C 10: 24,527,237 (GRCm39) H650R probably benign Het
Exoc6 A G 19: 37,560,311 (GRCm39) I109M probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fras1 A G 5: 96,916,211 (GRCm39) D3415G possibly damaging Het
Ghsr A G 3: 27,426,474 (GRCm39) I177V probably benign Het
Gm1979 A T 5: 26,207,028 (GRCm39) H62Q probably benign Het
Gpatch2 A G 1: 186,965,433 (GRCm39) D313G probably benign Het
Gtf2i C T 5: 134,271,639 (GRCm39) E823K probably damaging Het
Hook2 C A 8: 85,729,627 (GRCm39) T689N probably benign Het
Hrnr A T 3: 93,239,667 (GRCm39) N3302Y unknown Het
Igkv7-33 G A 6: 70,035,785 (GRCm39) P66S possibly damaging Het
Kcnh2 T A 5: 24,529,337 (GRCm39) I800F probably damaging Het
Mcmbp G A 7: 128,326,920 (GRCm39) Q21* probably null Het
Mmp21 T C 7: 133,280,704 (GRCm39) K89E probably benign Het
Or4b13 A G 2: 90,082,678 (GRCm39) V218A probably benign Het
Or52r1c A T 7: 102,735,021 (GRCm39) I94F probably damaging Het
Pcdhga4 A G 18: 37,820,458 (GRCm39) D669G possibly damaging Het
Ralgapa1 T C 12: 55,832,997 (GRCm39) T169A probably damaging Het
Sec31a T C 5: 100,540,369 (GRCm39) N35S probably benign Het
Serpinb5 A T 1: 106,798,148 (GRCm39) T46S probably benign Het
Svs5 A G 2: 164,079,548 (GRCm39) S120P possibly damaging Het
Tbpl2 T C 2: 23,984,953 (GRCm39) T64A probably benign Het
Tecpr2 T A 12: 110,911,297 (GRCm39) H1111Q possibly damaging Het
Tm9sf3 A G 19: 41,211,638 (GRCm39) F402L probably benign Het
Tmem120b T G 5: 123,254,287 (GRCm39) V287G possibly damaging Het
Tmem150c T C 5: 100,231,577 (GRCm39) T133A possibly damaging Het
Ubqln3 A T 7: 103,791,517 (GRCm39) V191D probably damaging Het
Ubr2 T C 17: 47,283,957 (GRCm39) E564G possibly damaging Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging Het
Other mutations in Fgg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Fgg APN 3 82,921,535 (GRCm39) missense possibly damaging 0.67
IGL01713:Fgg APN 3 82,915,723 (GRCm39) missense probably benign 0.20
IGL02288:Fgg APN 3 82,915,460 (GRCm39) missense probably benign 0.11
IGL02994:Fgg APN 3 82,915,781 (GRCm39) missense probably benign
PIT4519001:Fgg UTSW 3 82,920,246 (GRCm39) missense probably damaging 1.00
R1251:Fgg UTSW 3 82,920,287 (GRCm39) missense probably benign 0.03
R2137:Fgg UTSW 3 82,915,745 (GRCm39) missense possibly damaging 0.78
R2400:Fgg UTSW 3 82,915,494 (GRCm39) missense possibly damaging 0.94
R2436:Fgg UTSW 3 82,921,496 (GRCm39) missense possibly damaging 0.94
R3429:Fgg UTSW 3 82,920,090 (GRCm39) missense probably damaging 1.00
R4356:Fgg UTSW 3 82,920,250 (GRCm39) missense probably damaging 1.00
R4612:Fgg UTSW 3 82,917,397 (GRCm39) missense probably damaging 1.00
R4613:Fgg UTSW 3 82,917,397 (GRCm39) missense probably damaging 1.00
R4828:Fgg UTSW 3 82,915,677 (GRCm39) splice site probably benign
R4898:Fgg UTSW 3 82,915,847 (GRCm39) missense probably benign 0.02
R4938:Fgg UTSW 3 82,920,175 (GRCm39) missense probably benign 0.00
R4967:Fgg UTSW 3 82,920,072 (GRCm39) missense probably benign 0.33
R5635:Fgg UTSW 3 82,918,730 (GRCm39) missense probably benign 0.07
R5740:Fgg UTSW 3 82,918,832 (GRCm39) missense probably benign 0.01
R6307:Fgg UTSW 3 82,920,283 (GRCm39) missense probably damaging 0.98
R6731:Fgg UTSW 3 82,920,208 (GRCm39) missense probably damaging 1.00
R7582:Fgg UTSW 3 82,921,445 (GRCm39) missense probably damaging 1.00
R7769:Fgg UTSW 3 82,920,433 (GRCm39) splice site probably null
R8258:Fgg UTSW 3 82,917,477 (GRCm39) nonsense probably null
R8259:Fgg UTSW 3 82,917,477 (GRCm39) nonsense probably null
R8290:Fgg UTSW 3 82,920,141 (GRCm39) missense probably benign 0.00
R8810:Fgg UTSW 3 82,920,322 (GRCm39) missense probably damaging 0.96
R8826:Fgg UTSW 3 82,921,625 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGAAAACAGGGTAGCACTTTC -3'
(R):5'- AGACTTCTGAGTGGCACTGTC -3'

Sequencing Primer
(F):5'- CAGGGTAGCACTTTCATTTATCAG -3'
(R):5'- GGCACTGTCTATCATACCTGTAACAG -3'
Posted On 2018-11-06