Incidental Mutation 'R2121:F13a1'
ID 231471
Institutional Source Beutler Lab
Gene Symbol F13a1
Ensembl Gene ENSMUSG00000039109
Gene Name coagulation factor XIII, A1 subunit
Synonyms Factor XIIIA, 1200014I03Rik
MMRRC Submission 040125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 37051152-37234220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37209653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 104 (Y104F)
Ref Sequence ENSEMBL: ENSMUSP00000128316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037491] [ENSMUST00000164727]
AlphaFold Q8BH61
Predicted Effect probably benign
Transcript: ENSMUST00000037491
AA Change: Y104F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: Y104F

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 benign
Transcript: ENSMUST00000164727
AA Change: Y104F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: Y104F

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: ENSMUST00000224446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225168
Meta Mutation Damage Score 0.1477 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef26 A T 3: 62,247,704 (GRCm39) N263Y probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Ccl12 T A 11: 81,992,776 (GRCm39) S17R probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancl G T 11: 26,409,841 (GRCm39) probably benign Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Ncbp3 T C 11: 72,944,304 (GRCm39) V102A possibly damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Ppp2r2a A T 14: 67,260,577 (GRCm39) F234I probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly damaging Het
Other mutations in F13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:F13a1 APN 13 37,172,852 (GRCm39) missense probably benign 0.11
IGL01444:F13a1 APN 13 37,102,551 (GRCm39) missense probably null 1.00
IGL02188:F13a1 APN 13 37,090,035 (GRCm39) splice site probably benign
IGL02591:F13a1 APN 13 37,082,031 (GRCm39) missense probably damaging 1.00
IGL02660:F13a1 APN 13 37,127,868 (GRCm39) missense possibly damaging 0.92
IGL03244:F13a1 APN 13 37,172,870 (GRCm39) missense possibly damaging 0.82
IGL03401:F13a1 APN 13 37,082,054 (GRCm39) missense probably benign 0.00
F6893:F13a1 UTSW 13 37,155,999 (GRCm39) missense probably damaging 1.00
R0082:F13a1 UTSW 13 37,172,927 (GRCm39) missense probably damaging 0.99
R0657:F13a1 UTSW 13 37,152,079 (GRCm39) missense probably damaging 0.96
R1225:F13a1 UTSW 13 37,209,825 (GRCm39) missense probably benign
R1430:F13a1 UTSW 13 37,082,105 (GRCm39) missense probably damaging 1.00
R1608:F13a1 UTSW 13 37,052,785 (GRCm39) missense probably damaging 1.00
R1883:F13a1 UTSW 13 37,172,981 (GRCm39) missense probably benign 0.01
R2115:F13a1 UTSW 13 37,172,831 (GRCm39) missense probably damaging 1.00
R2122:F13a1 UTSW 13 37,209,653 (GRCm39) missense probably benign 0.01
R2125:F13a1 UTSW 13 37,076,815 (GRCm39) missense probably benign 0.15
R2392:F13a1 UTSW 13 37,127,971 (GRCm39) missense possibly damaging 0.65
R3618:F13a1 UTSW 13 37,127,967 (GRCm39) missense probably damaging 1.00
R3625:F13a1 UTSW 13 37,082,067 (GRCm39) missense probably benign 0.31
R3772:F13a1 UTSW 13 37,082,108 (GRCm39) missense probably benign
R3838:F13a1 UTSW 13 37,231,398 (GRCm39) missense probably damaging 1.00
R3857:F13a1 UTSW 13 37,209,668 (GRCm39) missense probably benign 0.32
R3937:F13a1 UTSW 13 37,100,875 (GRCm39) missense probably damaging 1.00
R4934:F13a1 UTSW 13 37,061,736 (GRCm39) missense probably benign 0.00
R4974:F13a1 UTSW 13 37,100,837 (GRCm39) critical splice donor site probably null
R5033:F13a1 UTSW 13 37,172,830 (GRCm39) missense probably damaging 1.00
R5194:F13a1 UTSW 13 37,156,037 (GRCm39) missense probably damaging 1.00
R5740:F13a1 UTSW 13 37,082,178 (GRCm39) missense probably benign 0.02
R5753:F13a1 UTSW 13 37,082,082 (GRCm39) nonsense probably null
R6188:F13a1 UTSW 13 37,209,752 (GRCm39) missense probably benign 0.12
R7048:F13a1 UTSW 13 37,082,117 (GRCm39) missense probably benign 0.02
R7197:F13a1 UTSW 13 37,100,860 (GRCm39) missense probably damaging 1.00
R7816:F13a1 UTSW 13 37,209,745 (GRCm39) missense probably benign 0.00
R7843:F13a1 UTSW 13 37,209,745 (GRCm39) missense probably benign 0.00
R7902:F13a1 UTSW 13 37,172,913 (GRCm39) missense probably damaging 1.00
R8124:F13a1 UTSW 13 37,209,779 (GRCm39) missense probably damaging 1.00
R8443:F13a1 UTSW 13 37,209,692 (GRCm39) missense probably damaging 1.00
R8856:F13a1 UTSW 13 37,100,859 (GRCm39) missense probably damaging 1.00
R8864:F13a1 UTSW 13 37,061,753 (GRCm39) missense probably damaging 1.00
R9026:F13a1 UTSW 13 37,102,506 (GRCm39) missense probably null 1.00
R9092:F13a1 UTSW 13 37,089,993 (GRCm39) missense probably benign 0.17
R9268:F13a1 UTSW 13 37,076,910 (GRCm39) missense probably benign 0.00
R9274:F13a1 UTSW 13 37,052,761 (GRCm39) missense probably damaging 1.00
R9497:F13a1 UTSW 13 37,082,118 (GRCm39) missense probably benign 0.05
R9645:F13a1 UTSW 13 37,082,154 (GRCm39) missense probably benign
Z1088:F13a1 UTSW 13 37,172,986 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCGAAACCATTTGAGAAAAGC -3'
(R):5'- AATGTCACAGCTGTTCACCTG -3'

Sequencing Primer
(F):5'- CATTTGAGAAAAGCAAAACACTCAG -3'
(R):5'- ACAGCTGTTCACCTGTTCAAG -3'
Posted On 2014-09-18