Incidental Mutation 'R6731:Fgg'
ID 530053
Institutional Source Beutler Lab
Gene Symbol Fgg
Ensembl Gene ENSMUSG00000033860
Gene Name fibrinogen gamma chain
Synonyms 3010002H13Rik, gamma-fibrinogen
MMRRC Submission 044849-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R6731 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 82915031-82922356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82920208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 329 (F329S)
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: F329S

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: F329S

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 noncoding transcript
Transcript: ENSMUST00000193581
Predicted Effect probably damaging
Transcript: ENSMUST00000194175
AA Change: F329S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: F329S

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (47/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 G A 8: 124,619,956 (GRCm39) T128I probably damaging Het
Ahnak T A 19: 8,988,926 (GRCm39) D3403E possibly damaging Het
Aldoc T A 11: 78,216,918 (GRCm39) D319E probably benign Het
Ank3 T A 10: 69,849,858 (GRCm39) D1108E possibly damaging Het
Ankrd7 G A 6: 18,866,653 (GRCm39) G58S probably damaging Het
Ass1 A T 2: 31,404,796 (GRCm39) Y359F probably damaging Het
B3gnt2 G T 11: 22,786,888 (GRCm39) S100* probably null Het
Cd46 T C 1: 194,765,775 (GRCm39) probably null Het
Chst5 G T 8: 112,616,676 (GRCm39) R315S probably benign Het
Cps1 T C 1: 67,200,030 (GRCm39) S393P probably damaging Het
Dis3l T C 9: 64,217,720 (GRCm39) probably null Het
Hsp90b1 T C 10: 86,537,769 (GRCm39) T179A probably benign Het
Kat2a A T 11: 100,599,099 (GRCm39) M559K probably damaging Het
Klhl41 T C 2: 69,505,044 (GRCm39) I449T probably damaging Het
Lama5 A T 2: 179,830,367 (GRCm39) I1880N probably benign Het
Lcp1 A G 14: 75,443,629 (GRCm39) D215G probably damaging Het
Lrch3 A G 16: 32,770,790 (GRCm39) T131A probably damaging Het
Mroh6 T C 15: 75,760,341 (GRCm39) T78A probably benign Het
Naa15 T G 3: 51,363,294 (GRCm39) V326G probably damaging Het
Nalcn T A 14: 123,837,346 (GRCm39) Q6L probably benign Het
Nipbl T A 15: 8,352,074 (GRCm39) I1863L probably damaging Het
Obi1 C T 14: 104,716,910 (GRCm39) V488I probably benign Het
Os9 C T 10: 126,934,412 (GRCm39) G408D probably benign Het
Pcbp2 T C 15: 102,397,225 (GRCm39) S237P probably damaging Het
Pcdhb10 G A 18: 37,546,529 (GRCm39) R535H probably benign Het
Pex5l A T 3: 33,012,947 (GRCm39) I320K probably damaging Het
Pgm2 T C 5: 64,258,318 (GRCm39) F101S probably benign Het
Phf8-ps A G 17: 33,285,200 (GRCm39) V534A probably benign Het
Poc1b T A 10: 98,988,733 (GRCm39) D207E probably null Het
Pou6f1 T C 15: 100,477,764 (GRCm39) I460V possibly damaging Het
Rnf17 A T 14: 56,761,807 (GRCm39) Q1623H possibly damaging Het
Rpap1 T C 2: 119,608,777 (GRCm39) N195S probably benign Het
Sacs C A 14: 61,418,149 (GRCm39) probably null Het
Scube2 G A 7: 109,409,944 (GRCm39) T643M probably damaging Het
Sele C T 1: 163,881,242 (GRCm39) L481F probably damaging Het
Stk32a A G 18: 43,438,143 (GRCm39) Y214C probably damaging Het
Tex44 T A 1: 86,354,207 (GRCm39) S39T probably benign Het
Tmem135 A T 7: 88,893,172 (GRCm39) M140K possibly damaging Het
Tox2 A G 2: 163,162,297 (GRCm39) Y354C probably damaging Het
Trim21 A T 7: 102,208,419 (GRCm39) F433L probably damaging Het
Trim24 T C 6: 37,920,420 (GRCm39) F406L probably damaging Het
Ubr1 G C 2: 120,786,121 (GRCm39) H166Q probably null Het
Wnt16 T A 6: 22,297,891 (GRCm39) Y252* probably null Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp141 T C 7: 42,138,924 (GRCm39) D36G probably damaging Het
Zfp729a C T 13: 67,768,265 (GRCm39) V655I probably benign Het
Zfp974 A T 7: 27,611,074 (GRCm39) V217E possibly 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
R6936:Fgg UTSW 3 82,915,727 (GRCm39) missense possibly damaging 0.82
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'- GGCCTTGTGACTTGAGATCC -3'
(R):5'- ATGCCAGTTGGATAATGAGTGG -3'

Sequencing Primer
(F):5'- GTGACTTGAGATCCTCCTTTCCAC -3'
(R):5'- CCAGTTGGATAATGAGTGGTATCC -3'
Posted On 2018-08-01