Incidental Mutation 'IGL00336:Fga'
ID 6860
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 # IGL00336
Quality Score
Status
Chromosome 3
Chromosomal Location 82933460-82940934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82938981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 452 (G452D)
Ref Sequence ENSEMBL: ENSMUSP00000133117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]
AlphaFold E9PV24
Predicted Effect probably damaging
Transcript: ENSMUST00000029630
AA Change: G452D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: G452D

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: G452D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: G452D

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,366 (GRCm39) Y417C probably damaging Het
Adam28 T A 14: 68,859,569 (GRCm39) H548L possibly damaging Het
Agbl3 A T 6: 34,823,771 (GRCm39) D812V probably damaging Het
Aopep A T 13: 63,163,237 (GRCm39) D86V possibly damaging Het
Aox1 T A 1: 58,098,203 (GRCm39) L305Q probably damaging Het
Arhgef38 A G 3: 132,837,812 (GRCm39) V706A probably benign Het
Arl15 A G 13: 114,291,288 (GRCm39) I171V probably benign Het
Cacna1s C A 1: 136,012,011 (GRCm39) Y237* probably null Het
Ccnt1 T C 15: 98,462,990 (GRCm39) T61A possibly damaging Het
Col25a1 T A 3: 129,975,433 (GRCm39) probably benign Het
Col4a1 T A 8: 11,290,077 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,970,455 (GRCm39) E130G possibly damaging Het
Dnah7b G A 1: 46,181,309 (GRCm39) M1065I probably benign Het
Ephb2 T G 4: 136,384,795 (GRCm39) K872T probably damaging Het
Flrt1 T A 19: 7,074,277 (GRCm39) N90I probably damaging Het
Fut10 T A 8: 31,685,319 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr137b T C 13: 13,549,000 (GRCm39) probably benign Het
Gprc5d G A 6: 135,093,488 (GRCm39) Q140* probably null Het
Ifi27l2b T C 12: 103,417,476 (GRCm39) K237R unknown Het
Ipo8 A T 6: 148,684,284 (GRCm39) M836K possibly damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Lama1 A T 17: 68,120,943 (GRCm39) H2693L probably benign Het
Lrrc23 A G 6: 124,755,889 (GRCm39) W40R probably damaging Het
Minar1 T C 9: 89,485,196 (GRCm39) D67G probably damaging Het
Morn2 C A 17: 80,602,933 (GRCm39) probably benign Het
Ms4a6b T A 19: 11,506,854 (GRCm39) N214K possibly damaging Het
Nags A T 11: 102,039,892 (GRCm39) S527C probably damaging Het
Ndst1 C T 18: 60,841,028 (GRCm39) G218D probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or5b94 T A 19: 12,651,924 (GRCm39) Y118* probably null Het
Or8h7 C T 2: 86,720,589 (GRCm39) C310Y probably benign Het
Oxa1l G T 14: 54,600,802 (GRCm39) G92* probably null Het
Parp16 A T 9: 65,137,245 (GRCm39) E157V probably damaging Het
Pcdh17 A T 14: 84,684,984 (GRCm39) I484F probably damaging Het
Pex16 A G 2: 92,209,580 (GRCm39) R263G probably benign Het
Pkd1l3 G A 8: 110,356,869 (GRCm39) E765K possibly damaging Het
Plce1 T C 19: 38,640,350 (GRCm39) V532A probably damaging Het
Polq A G 16: 36,885,609 (GRCm39) probably benign Het
Pramel5 T C 4: 143,998,191 (GRCm39) T351A probably damaging Het
Prokr1 A T 6: 87,565,593 (GRCm39) I84N probably damaging Het
Prss30 A T 17: 24,192,695 (GRCm39) S162T probably benign Het
Ranbp2 A G 10: 58,287,806 (GRCm39) K25E probably damaging Het
Rapsn A G 2: 90,866,205 (GRCm39) T22A probably damaging Het
Rhoj G T 12: 75,355,680 (GRCm39) G9V probably damaging Het
Rnf213 A G 11: 119,340,169 (GRCm39) R3467G probably benign Het
Rreb1 C A 13: 38,113,622 (GRCm39) S327* probably null Het
Scn5a G A 9: 119,315,290 (GRCm39) P1806L probably damaging Het
Sema6a C A 18: 47,423,042 (GRCm39) probably null Het
Stag3 G A 5: 138,295,921 (GRCm39) E416K probably benign Het
Stpg1 T A 4: 135,256,856 (GRCm39) S216T possibly damaging Het
Tfeb C A 17: 48,102,589 (GRCm39) N426K probably benign Het
Trp53bp1 G T 2: 121,087,060 (GRCm39) Q199K possibly damaging Het
Ubr4 A G 4: 139,155,877 (GRCm39) D2234G probably damaging Het
Ush1c T G 7: 45,846,194 (GRCm39) Q866P probably benign Het
Vdr T A 15: 97,782,735 (GRCm39) D29V probably damaging Het
Vps13c T C 9: 67,853,224 (GRCm39) V2439A probably benign Het
Xirp2 T C 2: 67,342,942 (GRCm39) S1728P possibly damaging Het
Zfp9 A G 6: 118,441,436 (GRCm39) S409P probably damaging Het
Other mutations in Fga
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20