Incidental Mutation 'IGL01621:F13b'
ID 92587
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 # IGL01621
Quality Score
Status
Chromosome 1
Chromosomal Location 139429440-139451490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139431589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
AlphaFold Q07968
Predicted Effect probably benign
Transcript: ENSMUST00000027615
AA Change: D53G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: D53G

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
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H 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
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
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 2013-12-09