Incidental Mutation 'R7478:F13b'
ID 579589
Institutional Source Beutler Lab
Gene Symbol F13b
Ensembl Gene ENSMUSG00000026368
Gene Name coagulation factor XIII, beta subunit
Synonyms Cf-13b, Cf13b
MMRRC Submission 045552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7478 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 139429440-139451490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139435433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 193 (T193A)
Ref Sequence ENSEMBL: ENSMUSP00000027615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027615]
AlphaFold Q07968
Predicted Effect probably benign
Transcript: ENSMUST00000027615
AA Change: T193A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: T193A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A G 6: 29,903,266 (GRCm39) R516G probably damaging Het
Ak9 T C 10: 41,265,087 (GRCm39) F948S Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Ankrd34a T C 3: 96,505,816 (GRCm39) L340P possibly damaging Het
Arid1a T A 4: 133,412,482 (GRCm39) R1186W unknown Het
Arpc4 T A 6: 113,361,092 (GRCm39) M95K possibly damaging Het
Atrnl1 A G 19: 57,684,744 (GRCm39) E790G possibly damaging Het
C130074G19Rik T C 1: 184,606,624 (GRCm39) N103D probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap2 T C 1: 136,198,678 (GRCm39) T782A Het
Catsperd A G 17: 56,971,055 (GRCm39) I706M probably benign Het
Cbx2 T C 11: 118,919,941 (GRCm39) V502A probably damaging Het
Cd72 T G 4: 43,454,515 (GRCm39) I5L possibly damaging Het
Celsr3 A G 9: 108,720,777 (GRCm39) Y2609C probably benign Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Efcc1 T C 6: 87,707,972 (GRCm39) V33A probably damaging Het
Eif4enif1 T A 11: 3,177,709 (GRCm39) L367* probably null Het
Eml2 T A 7: 18,940,066 (GRCm39) L627* probably null Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Ifna7 T A 4: 88,734,913 (GRCm39) I150N probably damaging Het
Man2b2 G A 5: 36,967,657 (GRCm39) H904Y probably damaging Het
Midn A G 10: 79,991,156 (GRCm39) T389A possibly damaging Het
Myo19 A T 11: 84,776,626 (GRCm39) H94L probably benign Het
Naglu T C 11: 100,962,725 (GRCm39) Y177H probably damaging Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Nxn A T 11: 76,152,378 (GRCm39) V372E probably damaging Het
Obscn G A 11: 58,984,242 (GRCm39) R1738C probably damaging Het
Pcm1 A G 8: 41,714,410 (GRCm39) E266G probably benign Het
Pkd1l1 T C 11: 8,879,441 (GRCm39) N920S Het
Pkd1l3 C A 8: 110,359,947 (GRCm39) T944K probably damaging Het
Prl7d1 C A 13: 27,894,168 (GRCm39) E133* probably null Het
Qser1 G A 2: 104,619,859 (GRCm39) L228F probably damaging Het
Rasa3 A G 8: 13,664,605 (GRCm39) I69T possibly damaging Het
Rb1 A T 14: 73,506,577 (GRCm39) S391T probably damaging Het
Rnf220 T C 4: 117,153,333 (GRCm39) Y301C possibly damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slfn5 A G 11: 82,851,442 (GRCm39) K580E probably damaging Het
Stard4 T C 18: 33,338,377 (GRCm39) Y111C unknown Het
Tagap C A 17: 8,152,422 (GRCm39) Q536K possibly damaging Het
Tank T C 2: 61,480,513 (GRCm39) C351R probably damaging Het
Tarbp2 A T 15: 102,430,169 (GRCm39) M144L probably benign Het
Tdrd9 T C 12: 111,951,476 (GRCm39) Y89H probably damaging Het
Tecpr2 C A 12: 110,934,873 (GRCm39) T1373K probably benign Het
Tle1 G A 4: 72,055,349 (GRCm39) P434L probably damaging Het
Tmed5 A G 5: 108,272,495 (GRCm39) V201A probably benign Het
Ust A G 10: 8,266,650 (GRCm39) probably null Het
Vmn2r94 T C 17: 18,477,767 (GRCm39) T215A probably benign Het
Zfp273 A T 13: 67,973,251 (GRCm39) Q126H probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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
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'- GGGTCTTGGCAAAGCTTATCAATG -3'
(R):5'- ATACCAGCCAAAGTTATAGCACTG -3'

Sequencing Primer
(F):5'- CGACGCAGAGAACATTCA -3'
(R):5'- TGCTTTACAGGATGAAAATAGCC -3'
Posted On 2019-10-07