Incidental Mutation 'IGL01843:F13b'
ID178102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F13b
Ensembl Gene ENSMUSG00000026368
Gene Namecoagulation factor XIII, beta subunit
SynonymsCf-13b, Cf13b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01843
Quality Score
Status
Chromosome1
Chromosomal Location139501702-139523752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139516427 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 500 (S500P)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
Predicted Effect probably damaging
Transcript: ENSMUST00000027615
AA Change: S500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: S500P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141842
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
C8a G A 4: 104,862,611 Q57* probably null Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
E2f7 T G 10: 110,774,735 V407G probably benign Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mapk6 T C 9: 75,390,290 Y315C probably damaging Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Nap1l1 A G 10: 111,492,911 R234G possibly damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Rragc T C 4: 123,921,059 S183P probably damaging Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 probably benign Het
Other mutations in F13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:F13b APN 1 139510587 missense probably benign 0.01
IGL00937:F13b APN 1 139517360 splice site probably benign
IGL01138:F13b APN 1 139517212 missense probably damaging 0.99
IGL01319:F13b APN 1 139506793 missense probably damaging 0.98
IGL01328:F13b APN 1 139508082 splice site probably benign
IGL01621:F13b APN 1 139503851 missense probably benign 0.00
IGL02153:F13b APN 1 139516377 missense probably damaging 1.00
IGL02192:F13b APN 1 139517333 missense probably damaging 1.00
IGL02555:F13b APN 1 139517186 missense probably damaging 1.00
IGL03036:F13b APN 1 139508115 missense possibly damaging 0.80
IGL03185:F13b APN 1 139516386 missense probably benign 0.03
IGL03303:F13b APN 1 139513036 missense possibly damaging 0.67
IGL03335:F13b APN 1 139522386 missense probably damaging 1.00
IGL03371:F13b APN 1 139506936 missense probably damaging 1.00
R0139:F13b UTSW 1 139508203 missense probably damaging 0.96
R0157:F13b UTSW 1 139503847 missense probably benign
R0381:F13b UTSW 1 139510859 missense probably damaging 0.98
R0492:F13b UTSW 1 139522559 splice site probably null
R0589:F13b UTSW 1 139506933 missense possibly damaging 0.94
R1462:F13b UTSW 1 139507636 missense probably damaging 1.00
R1462:F13b UTSW 1 139507636 missense probably damaging 1.00
R1515:F13b UTSW 1 139510965 missense probably damaging 1.00
R1869:F13b UTSW 1 139510934 missense probably benign 0.44
R2047:F13b UTSW 1 139508223 missense probably damaging 1.00
R2218:F13b UTSW 1 139506844 missense probably benign 0.42
R2878:F13b UTSW 1 139501747 start codon destroyed probably null
R3032:F13b UTSW 1 139517333 missense probably damaging 1.00
R4077:F13b UTSW 1 139501770 missense unknown
R4079:F13b UTSW 1 139501770 missense unknown
R4208:F13b UTSW 1 139516341 missense probably damaging 1.00
R4350:F13b UTSW 1 139516298 missense probably benign 0.00
R4674:F13b UTSW 1 139501804 missense unknown
R4675:F13b UTSW 1 139501804 missense unknown
R4972:F13b UTSW 1 139510923 missense probably damaging 1.00
R5212:F13b UTSW 1 139512987 missense probably benign
R5343:F13b UTSW 1 139510544 missense possibly damaging 0.61
R5503:F13b UTSW 1 139522543 missense probably benign 0.00
R5984:F13b UTSW 1 139508212 missense probably damaging 1.00
R7012:F13b UTSW 1 139516358 missense probably benign
Z1088:F13b UTSW 1 139508202 missense probably benign 0.15
Posted On2014-05-07