Incidental Mutation 'R1251:Fgg'
ID 151744
Institutional Source Beutler Lab
Gene Symbol Fgg
Ensembl Gene ENSMUSG00000033860
Gene Name fibrinogen gamma chain
Synonyms 3010002H13Rik, gamma-fibrinogen
MMRRC Submission 039318-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 82915031-82922356 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82920287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 355 (D355E)
Ref Sequence ENSEMBL: ENSMUSP00000141648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048486] [ENSMUST00000194175]
AlphaFold Q8VCM7
Predicted Effect probably benign
Transcript: ENSMUST00000048486
AA Change: D355E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: D355E

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 benign
Transcript: ENSMUST00000194175
AA Change: D355E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: D355E

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acap2 A T 16: 30,926,989 (GRCm39) Y509N probably damaging Het
Adcy9 T A 16: 4,129,395 (GRCm39) E497V probably damaging Het
Bcat2 T G 7: 45,225,410 (GRCm39) L56R probably damaging Het
Ccdc146 T C 5: 21,498,370 (GRCm39) M952V probably benign Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cfap46 C T 7: 139,181,181 (GRCm39) V2607I probably benign Het
Clec18a T C 8: 111,808,270 (GRCm39) I54V possibly damaging Het
Coil A G 11: 88,873,125 (GRCm39) E455G possibly damaging Het
Copg1 A T 6: 87,866,989 (GRCm39) K75* probably null Het
Cyp2j12 G A 4: 96,003,903 (GRCm39) Q238* probably null Het
Eif3i T C 4: 129,487,178 (GRCm39) E229G probably damaging Het
Exoc2 T A 13: 31,070,259 (GRCm39) N411Y probably benign Het
Eya2 T A 2: 165,596,404 (GRCm39) M305K probably damaging Het
Faim C T 9: 98,874,687 (GRCm39) T78M probably damaging Het
Foxn1 A G 11: 78,249,611 (GRCm39) L638P probably damaging Het
Grid2ip A T 5: 143,371,770 (GRCm39) E664D possibly damaging Het
Il1rn A G 2: 24,235,582 (GRCm39) R21G probably damaging Het
Ilrun C T 17: 28,005,044 (GRCm39) probably null Het
Inpp4b G A 8: 82,617,382 (GRCm39) G220R probably benign Het
Irx6 A G 8: 93,404,881 (GRCm39) S250G possibly damaging Het
Lyst T C 13: 13,809,068 (GRCm39) I246T probably benign Het
Mcm3 G A 1: 20,882,896 (GRCm39) Q353* probably null Het
Mfhas1 A G 8: 36,058,207 (GRCm39) Y894C probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Necab1 A G 4: 15,111,192 (GRCm39) probably null Het
Nectin3 A T 16: 46,284,205 (GRCm39) S160T possibly damaging Het
Npc2 A G 12: 84,807,658 (GRCm39) S67P probably damaging Het
Or5e1 T G 7: 108,354,114 (GRCm39) F17C probably damaging Het
Or5m9b G A 2: 85,905,164 (GRCm39) V27M probably benign Het
Pcnx3 A G 19: 5,727,210 (GRCm39) F1108L probably benign Het
Phf21a G A 2: 92,189,544 (GRCm39) S601N probably benign Het
Pold1 C T 7: 44,184,475 (GRCm39) V842I probably benign Het
Rabgap1 A G 2: 37,433,246 (GRCm39) probably null Het
Setd1a T A 7: 127,396,596 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,121 (GRCm39) probably null Het
Sult2a8 T A 7: 14,159,350 (GRCm39) K90* probably null Het
Tlr2 T C 3: 83,745,576 (GRCm39) D169G possibly damaging Het
Tmem95 A G 11: 69,767,655 (GRCm39) F153S probably benign Het
Tube1 G T 10: 39,010,204 (GRCm39) G10* probably null Het
Vmn2r10 T C 5: 109,143,890 (GRCm39) M687V probably benign Het
Zc3h8 G A 2: 128,777,289 (GRCm39) P117S probably benign Het
Zeb1 T A 18: 5,705,089 (GRCm39) D18E 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
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
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

Sequencing Primer
Posted On 2014-01-29