Incidental Mutation 'IGL01633:Fga'
ID 93637
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 # IGL01633
Quality Score
Status
Chromosome 3
Chromosomal Location 82933460-82940934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82937606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 161 (R161L)
Ref Sequence ENSEMBL: ENSMUSP00000133117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]
AlphaFold E9PV24
Predicted Effect possibly damaging
Transcript: ENSMUST00000029630
AA Change: R161L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: R161L

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 possibly damaging
Transcript: ENSMUST00000166581
AA Change: R161L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: R161L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,334,406 (GRCm39) S1868T possibly damaging Het
Abca3 G A 17: 24,616,327 (GRCm39) W923* probably null Het
Abca8b A G 11: 109,827,580 (GRCm39) M1476T probably damaging Het
Abi3bp T C 16: 56,498,163 (GRCm39) F729S probably damaging Het
Acacb T C 5: 114,356,919 (GRCm39) probably benign Het
Aldh3a2 A G 11: 61,139,731 (GRCm39) L467P probably benign Het
Appl1 T C 14: 26,684,795 (GRCm39) T85A probably damaging Het
Aspm T A 1: 139,408,574 (GRCm39) I2487N possibly damaging Het
Bcl2a1c G A 9: 114,159,290 (GRCm39) V23I probably benign Het
C2cd2 T A 16: 97,676,323 (GRCm39) probably benign Het
Carmil3 A T 14: 55,731,684 (GRCm39) H170L possibly damaging Het
Ccdc141 C T 2: 76,919,593 (GRCm39) V305I probably benign Het
Ccdc174 G A 6: 91,857,343 (GRCm39) probably null Het
Cep126 T G 9: 8,103,320 (GRCm39) Q230P possibly damaging Het
Chrm1 T C 19: 8,655,859 (GRCm39) I188T probably benign Het
Depdc5 T C 5: 33,081,544 (GRCm39) S569P probably damaging Het
Drc1 G A 5: 30,503,007 (GRCm39) E177K probably damaging Het
Duox1 A G 2: 122,164,279 (GRCm39) E913G probably benign Het
Fbxw9 T C 8: 85,791,055 (GRCm39) S241P probably damaging Het
Fez2 C A 17: 78,712,147 (GRCm39) probably benign Het
Fn3krp G T 11: 121,320,533 (GRCm39) G293* probably null Het
Gfra1 C T 19: 58,255,479 (GRCm39) E318K probably benign Het
Gli3 C T 13: 15,823,219 (GRCm39) P314S probably damaging Het
Gm5114 A T 7: 39,057,490 (GRCm39) S710T probably benign Het
Gpr141 T C 13: 19,936,769 (GRCm39) D2G probably benign Het
Inppl1 G A 7: 101,483,041 (GRCm39) Q63* probably null Het
Lrrc73 T A 17: 46,566,657 (GRCm39) V169E possibly damaging Het
Lsm11 C T 11: 45,824,615 (GRCm39) R304Q probably benign Het
Macf1 T C 4: 123,395,964 (GRCm39) D788G probably damaging Het
Nbas T A 12: 13,533,898 (GRCm39) D1844E probably damaging Het
Nt5c A G 11: 115,382,161 (GRCm39) F73L probably damaging Het
Osmr A T 15: 6,854,085 (GRCm39) I541N probably damaging Het
Phrf1 A G 7: 140,840,413 (GRCm39) I1203V probably benign Het
Pram1 C A 17: 33,861,109 (GRCm39) P510Q possibly damaging Het
Prepl A G 17: 85,379,444 (GRCm39) Y415H probably benign Het
Prss27 A T 17: 24,264,650 (GRCm39) H271L probably damaging Het
Ptpn18 A G 1: 34,510,989 (GRCm39) S287G probably benign Het
Ptprq T C 10: 107,535,584 (GRCm39) probably benign Het
Sars2 A G 7: 28,446,974 (GRCm39) K218E probably benign Het
Senp6 G T 9: 79,999,676 (GRCm39) S31I probably damaging Het
Shld2 G T 14: 33,971,136 (GRCm39) T31K probably damaging Het
Skint6 C A 4: 113,095,246 (GRCm39) V138F probably damaging Het
Slc4a8 C A 15: 100,685,128 (GRCm39) H168N probably damaging Het
Tbx15 T G 3: 99,220,358 (GRCm39) I150S probably damaging Het
Tbxas1 A G 6: 38,959,125 (GRCm39) N103D probably benign Het
Tmc5 A G 7: 118,222,809 (GRCm39) N170D probably damaging Het
Tmem108 A T 9: 103,361,950 (GRCm39) N545K probably benign Het
Trub1 A G 19: 57,441,616 (GRCm39) K80E possibly damaging Het
Tulp3 A T 6: 128,302,923 (GRCm39) Y299N probably 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
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
IGL03003:Fga APN 3 82,940,037 (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 2013-12-09