Incidental Mutation 'IGL02822:Fga'
ID361056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fga
Ensembl Gene ENSMUSG00000028001
Gene Namefibrinogen alpha chain
SynonymsENSMUSG00000059807, Fib
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.363) question?
Stock #IGL02822
Quality Score
Status
Chromosome3
Chromosomal Location83026076-83033627 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83031482 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 388 (E388G)
Ref Sequence ENSEMBL: ENSMUSP00000133117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]
Predicted Effect probably damaging
Transcript: ENSMUST00000029630
AA Change: E388G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: E388G

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: E388G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: E388G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 89,174,795 C2R unknown Het
4931428F04Rik T C 8: 105,284,698 Y268C probably damaging Het
Aldh1a7 A G 19: 20,702,266 V382A possibly damaging Het
Asap2 T C 12: 21,265,910 V943A probably damaging Het
Bod1l C T 5: 41,794,345 V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 T471I probably damaging Het
Col20a1 T C 2: 180,996,807 Y405H probably damaging Het
Evi5l T C 8: 4,187,248 I117T probably damaging Het
Fbxw5 A G 2: 25,503,010 N164S probably benign Het
Fgfr1 A G 8: 25,557,802 T55A probably benign Het
Gdpd4 T C 7: 97,971,924 V148A possibly damaging Het
Gm15448 T A 7: 3,816,918 T549S possibly damaging Het
Gm609 T C 16: 45,442,605 Y57C probably damaging Het
Gsap T A 5: 21,217,444 V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 H117R possibly damaging Het
Htr4 T A 18: 62,428,184 probably benign Het
Ifitm1 T C 7: 140,968,278 V8A possibly damaging Het
Ikbkap A G 4: 56,774,520 probably null Het
Kdelr1 A G 7: 45,873,864 probably benign Het
Klra6 G T 6: 130,016,710 Y199* probably null Het
Mmp21 C T 7: 133,676,099 D333N possibly damaging Het
Mocs1 T C 17: 49,439,569 F189S probably damaging Het
Myo18b C T 5: 112,775,345 A1849T probably damaging Het
Naca C A 10: 128,039,345 probably benign Het
Nbea A T 3: 56,019,447 H778Q possibly damaging Het
Nlrp4c C T 7: 6,065,727 P209L probably damaging Het
Olfr125 T C 17: 37,835,643 Y215H possibly damaging Het
Olfr1254 A G 2: 89,789,100 L84P possibly damaging Het
Olfr1491 A G 19: 13,705,655 D276G probably benign Het
Osbpl9 A G 4: 109,072,921 S258P probably damaging Het
Pclaf A G 9: 65,901,593 E108G possibly damaging Het
Pla2r1 C A 2: 60,455,173 C699F probably damaging Het
Pnkp A G 7: 44,862,424 Y120C probably damaging Het
Psme4 T A 11: 30,848,204 probably benign Het
Rad54l2 A G 9: 106,710,407 S720P probably damaging Het
Rasa1 T C 13: 85,252,514 H301R probably damaging Het
Spg11 C A 2: 122,074,534 W1316L probably damaging Het
Ube2t C T 1: 134,973,950 probably benign Het
Vmn2r94 T A 17: 18,243,620 I803F probably benign Het
Other mutations in Fga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Fga APN 3 83031674 missense probably damaging 1.00
IGL00478:Fga APN 3 83028644 missense probably benign 0.00
IGL00587:Fga APN 3 83030289 missense possibly damaging 0.62
IGL01289:Fga APN 3 83031245 missense possibly damaging 0.85
IGL01323:Fga APN 3 83030211 missense probably damaging 0.99
IGL01369:Fga APN 3 83030200 missense probably benign 0.00
IGL01409:Fga APN 3 83032752 missense probably damaging 1.00
IGL01541:Fga APN 3 83032707 missense probably damaging 1.00
IGL01633:Fga APN 3 83030299 missense possibly damaging 0.89
IGL01966:Fga APN 3 83029154 missense probably damaging 0.97
IGL02651:Fga APN 3 83028534 missense probably benign 0.00
IGL03003:Fga APN 3 83032730 missense probably damaging 1.00
R0336:Fga UTSW 3 83030857 missense probably damaging 1.00
R0540:Fga UTSW 3 83028562 missense probably damaging 1.00
R0607:Fga UTSW 3 83028562 missense probably damaging 1.00
R1471:Fga UTSW 3 83028618 missense probably benign 0.16
R1517:Fga UTSW 3 83031838 missense probably benign 0.00
R1817:Fga UTSW 3 83031775 missense probably benign 0.00
R1874:Fga UTSW 3 83032721 missense probably damaging 1.00
R2014:Fga UTSW 3 83032757 missense probably damaging 0.99
R2267:Fga UTSW 3 83032950 missense probably damaging 1.00
R2332:Fga UTSW 3 83031397 missense probably damaging 1.00
R2420:Fga UTSW 3 83033154 missense possibly damaging 0.53
R2443:Fga UTSW 3 83028541 missense probably benign 0.03
R3978:Fga UTSW 3 83030183 critical splice acceptor site probably null
R4597:Fga UTSW 3 83031235 nonsense probably null
R4644:Fga UTSW 3 83030266 missense possibly damaging 0.81
R4760:Fga UTSW 3 83031514 missense probably benign
R4867:Fga UTSW 3 83028644 missense probably benign 0.00
R5449:Fga UTSW 3 83030862 frame shift probably null
R5507:Fga UTSW 3 83033336 missense probably damaging 1.00
R5712:Fga UTSW 3 83033133 missense possibly damaging 0.70
R6853:Fga UTSW 3 83030912 missense probably damaging 1.00
R6865:Fga UTSW 3 83031541 missense probably damaging 1.00
R7163:Fga UTSW 3 83026264 missense probably benign 0.04
R7724:Fga UTSW 3 83029125 missense probably damaging 0.99
R8153:Fga UTSW 3 83030857 missense probably damaging 1.00
R8506:Fga UTSW 3 83033316 missense probably damaging 1.00
R8511:Fga UTSW 3 83031757 nonsense probably null
X0062:Fga UTSW 3 83030271 missense probably benign 0.08
Posted On2015-12-18