Incidental Mutation 'R0139:F13b'
ID 22149
Institutional Source Beutler Lab
Gene Symbol F13b
Ensembl Gene ENSMUSG00000026368
Gene Name coagulation factor XIII, beta subunit
Synonyms Cf-13b, Cf13b
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 139429440-139451490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 139435941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 249 (S249N)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
AlphaFold Q07968
Predicted Effect probably damaging
Transcript: ENSMUST00000027615
AA Change: S249N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: S249N

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 0.2235 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Kcnb1 A G 2: 166,947,459 (GRCm39) I463T possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N probably damaging 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
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
R2047:F13b UTSW 1 139,435,961 (GRCm39) missense probably damaging 1.00
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'- GCTCTGCCAGTAACATTCCGTGTC -3'
(R):5'- TGCACTCACATGAACATATGCACACATT -3'

Sequencing Primer
(F):5'- AGCTCTCTAAGCAGAATCTAGAAG -3'
(R):5'- catgaacatatgcacacattacatac -3'
Posted On 2013-04-16