Incidental Mutation 'R2047:F13b'
ID 222057
Institutional Source Beutler Lab
Gene Symbol F13b
Ensembl Gene ENSMUSG00000026368
Gene Name coagulation factor XIII, beta subunit
Synonyms Cf-13b, Cf13b
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 139429440-139451490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139435961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 256 (C256G)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
AlphaFold Q07968
Predicted Effect probably damaging
Transcript: ENSMUST00000027615
AA Change: C256G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: C256G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CCP 26 88 1.26e-7 SMART
CCP 92 147 2.11e-9 SMART
CCP 154 209 9.83e-10 SMART
CCP 214 268 7.62e-16 SMART
CCP 275 328 8.62e-15 SMART
CCP 337 390 4.62e-15 SMART
CCP 397 451 3.5e-15 SMART
Blast:CCP 455 516 1e-28 BLAST
CCP 525 579 2.44e-14 SMART
Blast:CCP 583 647 1e-8 BLAST
Meta Mutation Damage Score 0.9424 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: This gene encodes subunit B of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit A to form a heterotetrameric protein that circulates in the plasma. During the blood coagulation process, thrombin-mediated proteolytic cleavage of the subunit A results in the dissociation of the encoded protein from the heterotetramer. Male mice lacking the encoded protein exhibit mild fibrosis together with hemosiderin deposits in the heart. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display increased bleeding time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in F13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:F13b APN 1 139,438,325 (GRCm39) missense probably benign 0.01
IGL00937:F13b APN 1 139,445,098 (GRCm39) splice site probably benign
IGL01138:F13b APN 1 139,444,950 (GRCm39) missense probably damaging 0.99
IGL01319:F13b APN 1 139,434,531 (GRCm39) missense probably damaging 0.98
IGL01328:F13b APN 1 139,435,820 (GRCm39) splice site probably benign
IGL01621:F13b APN 1 139,431,589 (GRCm39) missense probably benign 0.00
IGL01843:F13b APN 1 139,444,165 (GRCm39) missense probably damaging 1.00
IGL02153:F13b APN 1 139,444,115 (GRCm39) missense probably damaging 1.00
IGL02192:F13b APN 1 139,445,071 (GRCm39) missense probably damaging 1.00
IGL02555:F13b APN 1 139,444,924 (GRCm39) missense probably damaging 1.00
IGL03036:F13b APN 1 139,435,853 (GRCm39) missense possibly damaging 0.80
IGL03185:F13b APN 1 139,444,124 (GRCm39) missense probably benign 0.03
IGL03303:F13b APN 1 139,440,774 (GRCm39) missense possibly damaging 0.67
IGL03335:F13b APN 1 139,450,124 (GRCm39) missense probably damaging 1.00
IGL03371:F13b APN 1 139,434,674 (GRCm39) missense probably damaging 1.00
R0139:F13b UTSW 1 139,435,941 (GRCm39) missense probably damaging 0.96
R0157:F13b UTSW 1 139,431,585 (GRCm39) missense probably benign
R0381:F13b UTSW 1 139,438,597 (GRCm39) missense probably damaging 0.98
R0492:F13b UTSW 1 139,450,297 (GRCm39) splice site probably null
R0589:F13b UTSW 1 139,434,671 (GRCm39) missense possibly damaging 0.94
R1462:F13b UTSW 1 139,435,374 (GRCm39) missense probably damaging 1.00
R1462:F13b UTSW 1 139,435,374 (GRCm39) missense probably damaging 1.00
R1515:F13b UTSW 1 139,438,703 (GRCm39) missense probably damaging 1.00
R1869:F13b UTSW 1 139,438,672 (GRCm39) missense probably benign 0.44
R2218:F13b UTSW 1 139,434,582 (GRCm39) missense probably benign 0.42
R2878:F13b UTSW 1 139,429,485 (GRCm39) start codon destroyed probably null
R3032:F13b UTSW 1 139,445,071 (GRCm39) missense probably damaging 1.00
R4077:F13b UTSW 1 139,429,508 (GRCm39) missense unknown
R4079:F13b UTSW 1 139,429,508 (GRCm39) missense unknown
R4208:F13b UTSW 1 139,444,079 (GRCm39) missense probably damaging 1.00
R4350:F13b UTSW 1 139,444,036 (GRCm39) missense probably benign 0.00
R4674:F13b UTSW 1 139,429,542 (GRCm39) missense unknown
R4675:F13b UTSW 1 139,429,542 (GRCm39) missense unknown
R4972:F13b UTSW 1 139,438,661 (GRCm39) missense probably damaging 1.00
R5212:F13b UTSW 1 139,440,725 (GRCm39) missense probably benign
R5343:F13b UTSW 1 139,438,282 (GRCm39) missense possibly damaging 0.61
R5503:F13b UTSW 1 139,450,281 (GRCm39) missense probably benign 0.00
R5984:F13b UTSW 1 139,435,950 (GRCm39) missense probably damaging 1.00
R7012:F13b UTSW 1 139,444,096 (GRCm39) missense probably benign
R7155:F13b UTSW 1 139,435,895 (GRCm39) missense probably damaging 1.00
R7250:F13b UTSW 1 139,444,227 (GRCm39) critical splice donor site probably null
R7478:F13b UTSW 1 139,435,433 (GRCm39) missense probably benign 0.01
R7779:F13b UTSW 1 139,444,124 (GRCm39) missense probably benign 0.03
R7960:F13b UTSW 1 139,431,509 (GRCm39) nonsense probably null
R8007:F13b UTSW 1 139,434,680 (GRCm39) missense probably benign 0.11
R8043:F13b UTSW 1 139,450,186 (GRCm39) missense probably benign
R8281:F13b UTSW 1 139,438,689 (GRCm39) missense probably benign 0.03
R9034:F13b UTSW 1 139,435,961 (GRCm39) missense probably damaging 1.00
Z1088:F13b UTSW 1 139,435,940 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- CCAGTAACATTCCGTGTCTTTTAG -3'
(R):5'- ACGAAGCTCAGTTTCTTCAGAG -3'

Sequencing Primer
(F):5'- CAATTAGAACTGCTGGTTTTTAGC -3'
(R):5'- TCATGGAGAACAAAGCTATT -3'
Posted On 2014-08-25