Incidental Mutation 'R4613:Fgg'
ID 350941
Institutional Source Beutler Lab
Gene Symbol Fgg
Ensembl Gene ENSMUSG00000033860
Gene Name fibrinogen gamma chain
Synonyms gamma-fibrinogen, 3010002H13Rik
MMRRC Submission 041824-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R4613 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 83007724-83015049 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83010090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 142 (N142S)
Ref Sequence ENSEMBL: ENSMUSP00000141648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048486] [ENSMUST00000194175]
AlphaFold Q8VCM7
Predicted Effect probably damaging
Transcript: ENSMUST00000048486
AA Change: N142S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037018
Gene: ENSMUSG00000033860
AA Change: N142S

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: N142S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141648
Gene: ENSMUSG00000033860
AA Change: N142S

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: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,557 (GRCm38) L130I probably benign Het
Abca9 A G 11: 110,144,784 (GRCm38) V670A probably benign Het
Adad1 A G 3: 37,092,033 (GRCm38) N517D probably damaging Het
Ankle2 T C 5: 110,231,379 (GRCm38) L48P probably benign Het
Aoc3 A T 11: 101,337,659 (GRCm38) probably benign Het
Areg A G 5: 91,143,504 (GRCm38) K102R probably benign Het
Bmp1 T C 14: 70,508,523 (GRCm38) T167A probably damaging Het
C4b C T 17: 34,734,551 (GRCm38) G986D probably benign Het
Caml G T 13: 55,625,142 (GRCm38) G200C probably damaging Het
Ccdc40 A C 11: 119,231,532 (GRCm38) R53S probably benign Het
Cdh22 T A 2: 165,143,656 (GRCm38) I337L probably benign Het
Col12a1 A T 9: 79,647,601 (GRCm38) V2065D probably benign Het
Copg2 A G 6: 30,811,596 (GRCm38) S591P probably benign Het
Cyp2d34 G A 15: 82,616,325 (GRCm38) P438S probably damaging Het
Dchs1 T C 7: 105,772,724 (GRCm38) D163G probably damaging Het
Depdc1b T C 13: 108,363,643 (GRCm38) V230A probably damaging Het
Depdc5 T A 5: 32,975,446 (GRCm38) L1300H probably damaging Het
Dnah10 G T 5: 124,762,869 (GRCm38) probably null Het
Dsc2 A T 18: 20,041,819 (GRCm38) D466E probably damaging Het
Dthd1 A G 5: 62,827,068 (GRCm38) D372G probably damaging Het
Eogt G T 6: 97,134,304 (GRCm38) Q199K probably benign Het
Epha6 C A 16: 59,666,597 (GRCm38) R1029L possibly damaging Het
Eppin C A 2: 164,589,323 (GRCm38) E128* probably null Het
Fam102b A T 3: 109,027,255 (GRCm38) F23I probably benign Het
Fam160b1 C A 19: 57,371,187 (GRCm38) P53Q probably damaging Het
Fgf20 T C 8: 40,286,611 (GRCm38) R33G probably benign Het
Gba C T 3: 89,208,644 (GRCm38) probably null Het
Gli2 A G 1: 118,837,511 (GRCm38) V970A probably damaging Het
Gramd1b A T 9: 40,307,993 (GRCm38) V508D probably damaging Het
Gucy2c T A 6: 136,708,321 (GRCm38) D898V probably damaging Het
Kcnj15 T C 16: 95,295,794 (GRCm38) Y92H probably damaging Het
L3mbtl3 A T 10: 26,282,795 (GRCm38) S652T unknown Het
Ldb2 G T 5: 44,476,551 (GRCm38) Q326K probably benign Het
Lipi C A 16: 75,560,801 (GRCm38) R292L probably benign Het
Lrrc36 G A 8: 105,449,614 (GRCm38) V207I possibly damaging Het
Lyplal1 C T 1: 186,088,752 (GRCm38) G166D probably benign Het
Map1b A T 13: 99,430,302 (GRCm38) Y1970* probably null Het
Map2 A G 1: 66,425,469 (GRCm38) N287D probably damaging Het
Map3k11 A T 19: 5,697,470 (GRCm38) Q578L probably benign Het
Map3k11 G T 19: 5,697,471 (GRCm38) Q578H probably damaging Het
Map4k4 G A 1: 40,017,191 (GRCm38) S1012N probably benign Het
Mapk13 A T 17: 28,769,452 (GRCm38) N15Y probably damaging Het
Mapk15 G A 15: 75,995,910 (GRCm38) A125T probably damaging Het
Mrgprb1 C A 7: 48,447,708 (GRCm38) R152L possibly damaging Het
Muc5ac T G 7: 141,791,103 (GRCm38) Y104D possibly damaging Het
Myo1h C A 5: 114,351,676 (GRCm38) H647Q probably benign Het
Myo1h A G 5: 114,348,379 (GRCm38) N566S possibly damaging Het
Neo1 A G 9: 58,889,041 (GRCm38) I1201T possibly damaging Het
Nlgn1 T C 3: 25,436,022 (GRCm38) T514A probably benign Het
Olfr120 A G 17: 37,726,696 (GRCm38) Y224C probably damaging Het
Olfr533 A T 7: 140,467,068 (GRCm38) Y289F probably damaging Het
Olfr8 A G 10: 78,956,065 (GRCm38) N287D probably damaging Het
Olfr985 T A 9: 40,127,722 (GRCm38) K80* probably null Het
Orc2 A T 1: 58,500,309 (GRCm38) L57* probably null Het
Otoa G A 7: 121,145,568 (GRCm38) V850M probably damaging Het
Pcnx3 T C 19: 5,667,219 (GRCm38) T1579A possibly damaging Het
Pde5a A T 3: 122,823,093 (GRCm38) Y564F probably damaging Het
Pdxk A C 10: 78,447,919 (GRCm38) I147S probably damaging Het
Pfdn5 A G 15: 102,328,752 (GRCm38) D108G probably benign Het
Pink1 T C 4: 138,317,310 (GRCm38) D342G probably damaging Het
Prkacb A T 3: 146,737,998 (GRCm38) V336E probably damaging Het
Ptpro C A 6: 137,416,836 (GRCm38) S13* probably null Het
Rfng A G 11: 120,782,650 (GRCm38) L215P probably damaging Het
Rpn2 T C 2: 157,302,425 (GRCm38) F336L possibly damaging Het
Sacs A G 14: 61,211,797 (GRCm38) probably null Het
Sirpb1a T A 3: 15,417,037 (GRCm38) Y77F probably benign Het
Skiv2l2 C A 13: 112,921,739 (GRCm38) E53* probably null Het
Slc30a8 A G 15: 52,333,575 (GRCm38) D294G probably benign Het
Sox13 T C 1: 133,388,934 (GRCm38) I212V probably benign Het
Srebf2 T A 15: 82,185,348 (GRCm38) I657N possibly damaging Het
Srsf6 C A 2: 162,933,709 (GRCm38) T146K probably benign Het
Strn4 T C 7: 16,824,163 (GRCm38) V162A possibly damaging Het
Sulf2 T C 2: 166,132,605 (GRCm38) D53G probably damaging Het
Tbc1d8 T A 1: 39,372,708 (GRCm38) I1016F probably damaging Het
Tfrc G T 16: 32,618,657 (GRCm38) A278S probably damaging Het
Tnrc6a T G 7: 123,184,289 (GRCm38) probably null Het
Vmn1r83 T C 7: 12,321,768 (GRCm38) I121V probably benign Het
Vps13d T C 4: 145,131,655 (GRCm38) S2200G possibly damaging Het
Washc2 T A 6: 116,229,269 (GRCm38) D397E probably damaging Het
Wipf3 T C 6: 54,485,555 (GRCm38) L250P probably damaging Het
Xirp1 A G 9: 120,019,682 (GRCm38) F45S probably damaging Het
Xpo5 A G 17: 46,236,963 (GRCm38) T910A probably benign Het
Zfp235 T C 7: 24,141,676 (GRCm38) Y507H probably damaging Het
Other mutations in Fgg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Fgg APN 3 83,014,228 (GRCm38) missense possibly damaging 0.67
IGL01713:Fgg APN 3 83,008,416 (GRCm38) missense probably benign 0.20
IGL02288:Fgg APN 3 83,008,153 (GRCm38) missense probably benign 0.11
IGL02994:Fgg APN 3 83,008,474 (GRCm38) missense probably benign
PIT4519001:Fgg UTSW 3 83,012,939 (GRCm38) missense probably damaging 1.00
R1251:Fgg UTSW 3 83,012,980 (GRCm38) missense probably benign 0.03
R2137:Fgg UTSW 3 83,008,438 (GRCm38) missense possibly damaging 0.78
R2400:Fgg UTSW 3 83,008,187 (GRCm38) missense possibly damaging 0.94
R2436:Fgg UTSW 3 83,014,189 (GRCm38) missense possibly damaging 0.94
R3429:Fgg UTSW 3 83,012,783 (GRCm38) missense probably damaging 1.00
R4356:Fgg UTSW 3 83,012,943 (GRCm38) missense probably damaging 1.00
R4612:Fgg UTSW 3 83,010,090 (GRCm38) missense probably damaging 1.00
R4828:Fgg UTSW 3 83,008,370 (GRCm38) splice site probably benign
R4898:Fgg UTSW 3 83,008,540 (GRCm38) missense probably benign 0.02
R4938:Fgg UTSW 3 83,012,868 (GRCm38) missense probably benign 0.00
R4967:Fgg UTSW 3 83,012,765 (GRCm38) missense probably benign 0.33
R5635:Fgg UTSW 3 83,011,423 (GRCm38) missense probably benign 0.07
R5740:Fgg UTSW 3 83,011,525 (GRCm38) missense probably benign 0.01
R6307:Fgg UTSW 3 83,012,976 (GRCm38) missense probably damaging 0.98
R6731:Fgg UTSW 3 83,012,901 (GRCm38) missense probably damaging 1.00
R6936:Fgg UTSW 3 83,008,420 (GRCm38) missense possibly damaging 0.82
R7582:Fgg UTSW 3 83,014,138 (GRCm38) missense probably damaging 1.00
R7769:Fgg UTSW 3 83,013,126 (GRCm38) splice site probably null
R8258:Fgg UTSW 3 83,010,170 (GRCm38) nonsense probably null
R8259:Fgg UTSW 3 83,010,170 (GRCm38) nonsense probably null
R8290:Fgg UTSW 3 83,012,834 (GRCm38) missense probably benign 0.00
R8810:Fgg UTSW 3 83,013,015 (GRCm38) missense probably damaging 0.96
R8826:Fgg UTSW 3 83,014,318 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08