Incidental Mutation 'IGL01541:Fga'
ID 90150
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 # IGL01541
Quality Score
Status
Chromosome 3
Chromosomal Location 82933460-82940934 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82940014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 556 (D556V)
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: D556V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: D556V

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
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Adamts10 A G 17: 33,762,205 (GRCm39) S505G probably benign Het
Ahnak C T 19: 8,985,243 (GRCm39) H2176Y possibly damaging Het
Ash1l G T 3: 88,973,572 (GRCm39) D2544Y probably damaging Het
Ccdc88a T A 11: 29,350,283 (GRCm39) F88L probably benign Het
Cdc42bpa A T 1: 179,978,723 (GRCm39) probably null Het
Celsr3 T C 9: 108,708,907 (GRCm39) V1251A probably damaging Het
CN725425 T A 15: 91,129,955 (GRCm39) F273I possibly damaging Het
Eif2b1 A G 5: 124,714,965 (GRCm39) C104R probably damaging Het
Ercc3 A T 18: 32,381,372 (GRCm39) D396V possibly damaging Het
Frg1 C T 8: 41,863,362 (GRCm39) probably benign Het
Fto T C 8: 92,136,376 (GRCm39) Y217H probably damaging Het
Garin4 A T 1: 190,896,606 (GRCm39) Y12* probably null Het
Grin3a A T 4: 49,792,533 (GRCm39) V400E probably damaging Het
Gtse1 T A 15: 85,759,855 (GRCm39) L682* probably null Het
Igkv6-32 A G 6: 70,051,290 (GRCm39) I22T probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Lamp1 T C 8: 13,215,905 (GRCm39) C35R probably damaging Het
Lzts3 A T 2: 130,478,126 (GRCm39) L324Q probably damaging Het
Muc6 T A 7: 141,236,069 (GRCm39) R453* probably null Het
Naa35 T A 13: 59,748,777 (GRCm39) H132Q probably damaging Het
Pgm5 C A 19: 24,793,777 (GRCm39) G296W probably damaging Het
Pkd1 T A 17: 24,805,272 (GRCm39) C3275S probably damaging Het
Podxl2 A G 6: 88,826,331 (GRCm39) L325P probably benign Het
Prom2 A G 2: 127,371,050 (GRCm39) probably null Het
Rab12 T C 17: 66,804,404 (GRCm39) S185G probably damaging Het
Rnf43 T G 11: 87,621,046 (GRCm39) M313R probably null Het
Rusc2 T C 4: 43,415,840 (GRCm39) V382A probably benign Het
Sbno1 A T 5: 124,516,618 (GRCm39) probably benign Het
Smg6 T C 11: 74,816,770 (GRCm39) I10T probably benign Het
Smpd1 T C 7: 105,205,033 (GRCm39) F304S possibly damaging Het
Spta1 G A 1: 174,044,725 (GRCm39) V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 (GRCm39) I722F possibly damaging Het
Topors T C 4: 40,262,364 (GRCm39) T307A possibly damaging Het
Ttn C T 2: 76,807,502 (GRCm39) R77Q probably damaging Het
Vmn1r210 C T 13: 23,011,778 (GRCm39) M169I probably benign Het
Zc3h4 A G 7: 16,168,257 (GRCm39) S789G unknown Het
Zfp629 G T 7: 127,211,917 (GRCm39) probably benign Het
Zfp977 C A 7: 42,230,156 (GRCm39) R123I probably benign 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
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 2013-12-03