Incidental Mutation 'IGL02660:F13a1'
ID302517
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 #IGL02660
Quality Score
Status
Chromosome13
Chromosomal Location36867178-37050244 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36943894 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 370 (V370A)
Ref Sequence ENSEMBL: ENSMUSP00000128316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037491] [ENSMUST00000164727]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037491
AA Change: V370A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: V370A

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 possibly damaging
Transcript: ENSMUST00000164727
AA Change: V370A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: V370A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224783
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik A G 15: 12,810,767 L341P probably damaging Het
Abcd3 A C 3: 121,784,020 N206K probably damaging Het
Adamtsl1 A G 4: 86,232,610 D335G probably damaging Het
Ankmy1 A T 1: 92,896,094 M150K probably damaging Het
Ap3b2 T C 7: 81,465,698 D680G probably benign Het
Asxl3 T A 18: 22,524,345 V1804D probably damaging Het
Bace2 T C 16: 97,415,140 V311A probably damaging Het
C2cd4c T A 10: 79,613,302 T4S probably benign Het
C2cd6 T C 1: 59,051,230 Y456C probably damaging Het
Cbr1 A G 16: 93,609,824 S143G probably benign Het
Ccdc191 A G 16: 43,960,099 T815A probably benign Het
Cenpf T A 1: 189,654,782 Q1767L probably damaging Het
Col6a5 A C 9: 105,936,886 N642K unknown Het
Dcaf10 G A 4: 45,372,769 R394Q possibly damaging Het
Ephb1 A T 9: 102,041,092 I406N possibly damaging Het
Gm14403 A T 2: 177,509,464 H401L probably damaging Het
Gp6 T G 7: 4,384,998 R157S probably benign Het
Gucy2e G A 11: 69,232,007 T514I probably benign Het
Hist1h2aa T C 13: 23,934,625 V55A probably damaging Het
Mok A G 12: 110,828,065 I63T probably damaging Het
Otop1 T C 5: 38,288,005 V169A probably damaging Het
Pdzph1 T A 17: 58,880,647 T1193S probably damaging Het
Plekha7 A G 7: 116,157,574 probably benign Het
Plekhm1 A T 11: 103,374,094 probably benign Het
Prex1 A G 2: 166,593,867 Y587H probably damaging Het
Scaf1 C A 7: 45,012,118 probably benign Het
Sema3f A T 9: 107,683,984 F601Y probably benign Het
Shoc2 T C 19: 53,988,021 I114T probably benign Het
Skint10 T A 4: 112,765,030 probably benign Het
Slc18b1 T C 10: 23,810,952 probably benign Het
Slco5a1 A G 1: 12,989,636 L287P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Trim5 C A 7: 104,266,218 R296L probably damaging Het
Vmn2r60 G T 7: 42,142,296 E548* probably null Het
Wdr26 A T 1: 181,198,898 W251R probably damaging Het
Other mutations in F13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:F13a1 APN 13 36988878 missense probably benign 0.11
IGL01444:F13a1 APN 13 36918577 missense probably null 1.00
IGL02188:F13a1 APN 13 36906061 splice site probably benign
IGL02591:F13a1 APN 13 36898057 missense probably damaging 1.00
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
R7048:F13a1 UTSW 13 36898143 missense probably benign 0.02
R7197:F13a1 UTSW 13 36916886 missense probably damaging 1.00
R7816:F13a1 UTSW 13 37025771 missense probably benign 0.00
Z1088:F13a1 UTSW 13 36989012 nonsense probably null
Posted On2015-04-16