Incidental Mutation 'IGL03003:Fga'
ID 407437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fga
Ensembl Gene ENSMUSG00000028001
Gene Name fibrinogen alpha chain
Synonyms Fib, ENSMUSG00000059807
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # IGL03003
Quality Score
Status
Chromosome 3
Chromosomal Location 82933460-82940934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82940037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 564 (S564P)
Ref Sequence ENSEMBL: ENSMUSP00000133117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]
AlphaFold E9PV24
Predicted Effect probably benign
Transcript: ENSMUST00000029630
SMART Domains Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
Fib_alpha 49 193 1.29e-69 SMART
low complexity region 264 286 N/A INTRINSIC
low complexity region 311 340 N/A INTRINSIC
Pfam:Fibrinogen_aC 392 458 1.6e-33 PFAM
low complexity region 500 522 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166581
AA Change: S564P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: S564P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
Fib_alpha 49 193 1.29e-69 SMART
low complexity region 264 286 N/A INTRINSIC
low complexity region 311 340 N/A INTRINSIC
Pfam:Fibrinogen_aC 392 457 9.3e-34 PFAM
low complexity region 500 522 N/A INTRINSIC
FBG 550 786 1.43e-128 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded protein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mice lacking the encoded protein display bleeding in the peritoneal cavity, skin and soft tissues around joints immediately after birth, and are predisposed to spontaneous fatal abdominal hemorrhage as they grow. Pregnant mice lacking the encoded protein succumb to uterine bleeding during gestation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,671,509 (GRCm39) P577L probably damaging Het
Aff3 A T 1: 38,248,651 (GRCm39) S819T probably damaging Het
Aftph G T 11: 20,676,982 (GRCm39) S209* probably null Het
Astn1 T A 1: 158,439,965 (GRCm39) D844E probably benign Het
Cc2d2a A G 5: 43,828,608 (GRCm39) K29E probably benign Het
Ccdc93 T C 1: 121,390,846 (GRCm39) S273P possibly damaging Het
Cd200r3 C A 16: 44,764,139 (GRCm39) H2N probably benign Het
Cd200r3 G T 16: 44,764,138 (GRCm39) M1I probably null Het
Col7a1 G A 9: 108,804,024 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,642,640 (GRCm39) M240L probably benign Het
Dcstamp T C 15: 39,617,906 (GRCm39) V105A possibly damaging Het
Dmbt1 C A 7: 130,684,409 (GRCm39) P635Q probably benign Het
Dsg1a T A 18: 20,469,876 (GRCm39) M634K probably benign Het
Farp2 T C 1: 93,495,140 (GRCm39) Y138H probably damaging Het
Gbf1 T C 19: 46,244,094 (GRCm39) L142S probably damaging Het
Gm5422 T C 10: 31,126,840 (GRCm39) noncoding transcript Het
Helz2 A G 2: 180,882,046 (GRCm39) V249A probably damaging Het
Hmcn2 C A 2: 31,323,498 (GRCm39) T4204K probably damaging Het
Ift81 T C 5: 122,732,725 (GRCm39) I270V probably benign Het
Katnip A T 7: 125,451,132 (GRCm39) I1088F probably damaging Het
Kif6 C T 17: 50,060,899 (GRCm39) R411* probably null Het
Klhl35 T A 7: 99,119,550 (GRCm39) V345D probably damaging Het
Mcm3ap C A 10: 76,340,531 (GRCm39) D1531E probably benign Het
Muc5b C A 7: 141,417,351 (GRCm39) D3432E probably benign Het
Nipbl A T 15: 8,379,798 (GRCm39) V998D probably damaging Het
Nlrc3 C A 16: 3,782,726 (GRCm39) V228L probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Nt5c1b C T 12: 10,424,910 (GRCm39) A210V possibly damaging Het
Or13a18 A G 7: 140,190,283 (GRCm39) Y60C probably damaging Het
Or1l4b T C 2: 37,036,464 (GRCm39) V80A probably benign Het
Osbpl7 T C 11: 96,941,521 (GRCm39) Y15H probably benign Het
Pde8b T A 13: 95,178,465 (GRCm39) N552Y probably damaging Het
Pi4kb T A 3: 94,892,123 (GRCm39) S280T probably benign Het
Pkd1 T A 17: 24,812,577 (GRCm39) probably null Het
Polh A T 17: 46,505,292 (GRCm39) V108E possibly damaging Het
Prob1 A G 18: 35,786,428 (GRCm39) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,582 (GRCm39) N1557K probably damaging Het
Rev1 A C 1: 38,127,154 (GRCm39) F369V possibly damaging Het
Rgma A G 7: 73,067,188 (GRCm39) N148D probably damaging Het
Robo3 A G 9: 37,330,587 (GRCm39) L1003S probably damaging Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Sema6c T C 3: 95,076,925 (GRCm39) L337P probably damaging Het
Shc4 A T 2: 125,565,253 (GRCm39) Y15* probably null Het
Slc4a9 T C 18: 36,669,946 (GRCm39) S722P probably damaging Het
Smarcc1 A G 9: 110,035,168 (GRCm39) N864D probably damaging Het
Sspo T C 6: 48,432,021 (GRCm39) L745P probably damaging Het
Syce1l A G 8: 114,380,699 (GRCm39) D137G probably damaging Het
Tbc1d1 G T 5: 64,473,781 (GRCm39) W768L probably damaging Het
Tmbim7 A G 5: 3,711,887 (GRCm39) D7G probably benign Het
Tmem109 A C 19: 10,851,695 (GRCm39) S64A probably benign Het
Tnfrsf21 A G 17: 43,350,834 (GRCm39) R333G probably damaging Het
Ttn T G 2: 76,611,955 (GRCm39) S17316R probably damaging Het
Usp10 A G 8: 120,681,549 (GRCm39) T668A possibly damaging Het
Xirp2 T A 2: 67,345,906 (GRCm39) F2716I possibly damaging Het
Other mutations in Fga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Fga APN 3 82,938,981 (GRCm39) missense probably damaging 1.00
IGL00478:Fga APN 3 82,935,951 (GRCm39) missense probably benign 0.00
IGL00587:Fga APN 3 82,937,596 (GRCm39) missense possibly damaging 0.62
IGL01289:Fga APN 3 82,938,552 (GRCm39) missense possibly damaging 0.85
IGL01323:Fga APN 3 82,937,518 (GRCm39) missense probably damaging 0.99
IGL01369:Fga APN 3 82,937,507 (GRCm39) missense probably benign 0.00
IGL01409:Fga APN 3 82,940,059 (GRCm39) missense probably damaging 1.00
IGL01541:Fga APN 3 82,940,014 (GRCm39) missense probably damaging 1.00
IGL01633:Fga APN 3 82,937,606 (GRCm39) missense possibly damaging 0.89
IGL01966:Fga APN 3 82,936,461 (GRCm39) missense probably damaging 0.97
IGL02651:Fga APN 3 82,935,841 (GRCm39) missense probably benign 0.00
IGL02822:Fga APN 3 82,938,789 (GRCm39) missense probably damaging 1.00
R0336:Fga UTSW 3 82,938,164 (GRCm39) missense probably damaging 1.00
R0540:Fga UTSW 3 82,935,869 (GRCm39) missense probably damaging 1.00
R0607:Fga UTSW 3 82,935,869 (GRCm39) missense probably damaging 1.00
R1471:Fga UTSW 3 82,935,925 (GRCm39) missense probably benign 0.16
R1517:Fga UTSW 3 82,939,145 (GRCm39) missense probably benign 0.00
R1817:Fga UTSW 3 82,939,082 (GRCm39) missense probably benign 0.00
R1874:Fga UTSW 3 82,940,028 (GRCm39) missense probably damaging 1.00
R2014:Fga UTSW 3 82,940,064 (GRCm39) missense probably damaging 0.99
R2267:Fga UTSW 3 82,940,257 (GRCm39) missense probably damaging 1.00
R2332:Fga UTSW 3 82,938,704 (GRCm39) missense probably damaging 1.00
R2420:Fga UTSW 3 82,940,461 (GRCm39) missense possibly damaging 0.53
R2443:Fga UTSW 3 82,935,848 (GRCm39) missense probably benign 0.03
R3978:Fga UTSW 3 82,937,490 (GRCm39) critical splice acceptor site probably null
R4597:Fga UTSW 3 82,938,542 (GRCm39) nonsense probably null
R4644:Fga UTSW 3 82,937,573 (GRCm39) missense possibly damaging 0.81
R4760:Fga UTSW 3 82,938,821 (GRCm39) missense probably benign
R4867:Fga UTSW 3 82,935,951 (GRCm39) missense probably benign 0.00
R5449:Fga UTSW 3 82,938,169 (GRCm39) frame shift probably null
R5507:Fga UTSW 3 82,940,643 (GRCm39) missense probably damaging 1.00
R5712:Fga UTSW 3 82,940,440 (GRCm39) missense possibly damaging 0.70
R6853:Fga UTSW 3 82,938,219 (GRCm39) missense probably damaging 1.00
R6865:Fga UTSW 3 82,938,848 (GRCm39) missense probably damaging 1.00
R7163:Fga UTSW 3 82,933,571 (GRCm39) missense probably benign 0.04
R7724:Fga UTSW 3 82,936,432 (GRCm39) missense probably damaging 0.99
R8153:Fga UTSW 3 82,938,164 (GRCm39) missense probably damaging 1.00
R8506:Fga UTSW 3 82,940,623 (GRCm39) missense probably damaging 1.00
R8511:Fga UTSW 3 82,939,064 (GRCm39) nonsense probably null
R8523:Fga UTSW 3 82,938,158 (GRCm39) missense probably damaging 1.00
R8801:Fga UTSW 3 82,938,188 (GRCm39) missense possibly damaging 0.89
R8906:Fga UTSW 3 82,939,111 (GRCm39) missense probably benign 0.12
R9390:Fga UTSW 3 82,940,610 (GRCm39) missense probably damaging 1.00
R9609:Fga UTSW 3 82,940,064 (GRCm39) missense probably damaging 1.00
X0062:Fga UTSW 3 82,937,578 (GRCm39) missense probably benign 0.08
Posted On 2016-08-02