Incidental Mutation 'IGL03335:F13b'
ID 416987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F13b
Ensembl Gene ENSMUSG00000026368
Gene Name coagulation factor XIII, beta subunit
Synonyms Cf-13b, Cf13b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03335
Quality Score
Status
Chromosome 1
Chromosomal Location 139429440-139451490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139450124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 595 (L595F)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
AlphaFold Q07968
Predicted Effect probably damaging
Transcript: ENSMUST00000027615
AA Change: L595F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: L595F

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,985,258 (GRCm39) V713A probably benign Het
Abtb3 A T 10: 85,494,222 (GRCm39) probably benign Het
Actr8 T C 14: 29,700,514 (GRCm39) V31A probably benign Het
Alcam A C 16: 52,111,366 (GRCm39) Y244* probably null Het
Ankrd24 A G 10: 81,482,967 (GRCm39) S972G probably benign Het
Aox1 T A 1: 58,115,319 (GRCm39) V768E probably damaging Het
Carmil2 A G 8: 106,423,661 (GRCm39) I1212V probably benign Het
Catsper1 C T 19: 5,386,339 (GRCm39) R191C probably damaging Het
Cenpe T A 3: 134,949,386 (GRCm39) V57D probably benign Het
Cpsf3 T C 12: 21,356,888 (GRCm39) probably null Het
Cubn A G 2: 13,365,140 (GRCm39) S1633P probably damaging Het
Dsg1c G A 18: 20,416,754 (GRCm39) R885Q probably benign Het
Egfl6 C A X: 165,321,689 (GRCm39) G272W probably damaging Het
Ermard T C 17: 15,279,668 (GRCm39) L486P probably damaging Het
Foxm1 A G 6: 128,349,531 (GRCm39) N350S possibly damaging Het
Fras1 T C 5: 96,881,803 (GRCm39) probably benign Het
Gpr152 C A 19: 4,193,770 (GRCm39) T437N possibly damaging Het
Icmt T A 4: 152,385,154 (GRCm39) Y205* probably null Het
Ints8 A T 4: 11,216,460 (GRCm39) F844I probably damaging Het
Mep1a T A 17: 43,788,064 (GRCm39) D664V possibly damaging Het
Muc4 T A 16: 32,574,449 (GRCm39) N966K probably benign Het
Myo7b T A 18: 32,118,073 (GRCm39) Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,850 (GRCm39) H2095R probably benign Het
Phldb1 A G 9: 44,639,366 (GRCm39) L4P possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla8 T A 12: 44,329,947 (GRCm39) N166K probably benign Het
Qrfprl T C 6: 65,430,101 (GRCm39) probably null Het
Rapgef2 A G 3: 79,006,492 (GRCm39) M137T probably damaging Het
Rbm15b G A 9: 106,761,538 (GRCm39) H877Y probably damaging Het
Rbm45 T C 2: 76,206,777 (GRCm39) L263P probably damaging Het
Rprd1b T C 2: 157,916,884 (GRCm39) V288A probably damaging Het
Tmtc3 C A 10: 100,302,116 (GRCm39) V278L probably damaging Het
Tomm70a A G 16: 56,970,289 (GRCm39) T556A probably damaging Het
Trpc7 T C 13: 57,035,504 (GRCm39) E143G probably damaging Het
Trpm3 G T 19: 22,903,435 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,054,499 (GRCm39) E94G probably benign Het
Vmn1r174 T C 7: 23,453,937 (GRCm39) V201A probably benign Het
Zfp352 T C 4: 90,112,583 (GRCm39) F241S 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
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
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
Posted On 2016-08-02