Incidental Mutation 'IGL01444:F13a1'
ID84355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F13a1
Ensembl Gene ENSMUSG00000039109
Gene Namecoagulation factor XIII, A1 subunit
SynonymsFactor XIIIA, 1200014I03Rik
Accession Numbers

Genbank: NM_028784; MGI: 1921395

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01444
Quality Score
Status
Chromosome13
Chromosomal Location36867178-37050244 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36918577 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 391 (G391R)
Ref Sequence ENSEMBL: ENSMUSP00000128316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037491] [ENSMUST00000164727]
Predicted Effect probably null
Transcript: ENSMUST00000037491
AA Change: G391R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: G391R

DomainStartEndE-ValueType
Pfam:Transglut_N 47 165 9e-34 PFAM
TGc 307 400 2.01e-45 SMART
Pfam:Transglut_C 519 623 2e-26 PFAM
Pfam:Transglut_C 631 728 1.3e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164727
AA Change: G391R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: G391R

DomainStartEndE-ValueType
Pfam:Transglut_N 46 167 3e-38 PFAM
TGc 307 400 2.01e-45 SMART
Pfam:Transglut_C 519 623 2.2e-23 PFAM
Pfam:Transglut_C 631 728 1.1e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes subunit A of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit B to form a heterotetrameric proenzyme that undergoes thrombin-mediated proteolysis to generate active factor XIIIa. The transglutaminase activity of factor XIIIa is required for the calcium-dependent crosslinking of fibrin, leading to the formation of a clot. Mice lacking the encoded protein display impaired reproduction and reduced survival due to bleeding episodes, hematothorax, hematoperitoneum and subcutaneous hemorrhage. Additionally, mice lacking the encoded protein exhibit impaired wound healing and inadequate healing of myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T G 11: 23,620,225 probably benign Het
Adad1 A T 3: 37,092,034 N517I probably damaging Het
Adam25 G A 8: 40,754,921 R408H probably benign Het
Ang C A 14: 51,101,667 Y88* probably null Het
Ankrd42 T C 7: 92,610,585 T327A probably damaging Het
Birc6 A G 17: 74,631,687 D2696G probably damaging Het
Chd3 G A 11: 69,348,742 T1717M probably benign Het
Csmd1 T A 8: 16,200,055 M970L probably benign Het
Dhx32 T C 7: 133,748,977 I121M possibly damaging Het
Dnah11 G A 12: 118,020,232 S2506F possibly damaging Het
Dscam T A 16: 96,673,709 I1218F possibly damaging Het
Duox1 T C 2: 122,340,090 L1197P probably damaging Het
Eps8l2 T C 7: 141,361,375 Het
Exoc3 T C 13: 74,206,935 K49R probably damaging Het
Exoc8 T A 8: 124,895,841 T596S possibly damaging Het
Fam35a C A 14: 34,237,557 V823F probably damaging Het
Fat3 A T 9: 15,998,848 S1953T probably damaging Het
Gls2 C A 10: 128,201,347 N252K probably damaging Het
Gm5346 A T 8: 43,626,433 D251E probably benign Het
Haus2 G A 2: 120,615,942 R115K probably benign Het
Ift122 A G 6: 115,884,379 K262E probably benign Het
Islr2 C T 9: 58,198,378 C533Y probably damaging Het
Lrp2 A T 2: 69,443,716 F3997I possibly damaging Het
Nt5c1a C T 4: 123,216,169 R354W probably damaging Het
Olfr776 T A 10: 129,261,335 C125S probably damaging Het
Pcolce A T 5: 137,607,476 S200R probably damaging Het
Plec A G 15: 76,179,297 V2213A possibly damaging Het
Prmt3 T A 7: 49,780,372 D74E probably benign Het
Ptk7 A G 17: 46,565,387 F1046S probably damaging Het
Ranbp2 T C 10: 58,475,300 Y887H possibly damaging Het
Sez6l2 G A 7: 126,961,883 E447K possibly damaging Het
Snrnp70 C T 7: 45,387,236 probably null Het
Timm10 T A 2: 84,829,864 V49E probably damaging Het
Tox2 T C 2: 163,225,466 probably benign Het
Usp20 T A 2: 30,998,789 M1K probably null Het
Usp32 A C 11: 85,059,164 L223V probably damaging Het
Zeb1 T C 18: 5,767,138 S550P probably benign Het
Zeb1 G T 18: 5,767,906 A806S probably damaging Het
Other mutations in F13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:F13a1 APN 13 36988878 missense probably benign 0.11
IGL02188:F13a1 APN 13 36906061 splice site probably benign
IGL02591:F13a1 APN 13 36898057 missense probably damaging 1.00
IGL02660:F13a1 APN 13 36943894 missense possibly damaging 0.92
IGL03244:F13a1 APN 13 36988896 missense possibly damaging 0.82
IGL03401:F13a1 APN 13 36898080 missense probably benign 0.00
F6893:F13a1 UTSW 13 36972025 missense probably damaging 1.00
R0082:F13a1 UTSW 13 36988953 missense probably damaging 0.99
R0657:F13a1 UTSW 13 36968105 missense probably damaging 0.96
R1225:F13a1 UTSW 13 37025851 missense probably benign
R1430:F13a1 UTSW 13 36898131 missense probably damaging 1.00
R1608:F13a1 UTSW 13 36868811 missense probably damaging 1.00
R1883:F13a1 UTSW 13 36989007 missense probably benign 0.01
R2115:F13a1 UTSW 13 36988857 missense probably damaging 1.00
R2121:F13a1 UTSW 13 37025679 missense probably benign 0.01
R2122:F13a1 UTSW 13 37025679 missense probably benign 0.01
R2125:F13a1 UTSW 13 36892841 missense probably benign 0.15
R2392:F13a1 UTSW 13 36943997 missense possibly damaging 0.65
R3618:F13a1 UTSW 13 36943993 missense probably damaging 1.00
R3625:F13a1 UTSW 13 36898093 missense probably benign 0.31
R3772:F13a1 UTSW 13 36898134 missense probably benign
R3838:F13a1 UTSW 13 37047424 missense probably damaging 1.00
R3857:F13a1 UTSW 13 37025694 missense probably benign 0.32
R3937:F13a1 UTSW 13 36916901 missense probably damaging 1.00
R4934:F13a1 UTSW 13 36877762 missense probably benign 0.00
R4974:F13a1 UTSW 13 36916863 critical splice donor site probably null
R5033:F13a1 UTSW 13 36988856 missense probably damaging 1.00
R5194:F13a1 UTSW 13 36972063 missense probably damaging 1.00
R5740:F13a1 UTSW 13 36898204 missense probably benign 0.02
R5753:F13a1 UTSW 13 36898108 nonsense probably null
R6188:F13a1 UTSW 13 37025778 missense probably benign 0.12
Z1088:F13a1 UTSW 13 36989012 nonsense probably null
Posted On2013-11-11