Incidental Mutation 'R4130:F10'
ID 315507
Institutional Source Beutler Lab
Gene Symbol F10
Ensembl Gene ENSMUSG00000031444
Gene Name coagulation factor X
Synonyms fX, AI194738, Cf10
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13087308-13106676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13105584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 383 (D383G)
Ref Sequence ENSEMBL: ENSMUSP00000068389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000128418] [ENSMUST00000152034]
AlphaFold O88947
Predicted Effect possibly damaging
Transcript: ENSMUST00000033821
AA Change: D395G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: D395G

DomainStartEndE-ValueType
low complexity region 19 31 N/A INTRINSIC
GLA 34 97 5.98e-32 SMART
EGF_CA 98 134 4.56e-9 SMART
EGF 140 177 2.66e-1 SMART
low complexity region 201 218 N/A INTRINSIC
Tryp_SPc 243 471 9.03e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000063820
AA Change: D383G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: D383G

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Tryp_SPc 231 459 9.03e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128418
SMART Domains Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Pfam:Trypsin 232 298 4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152034
SMART Domains Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF_CA 86 122 4.56e-9 SMART
EGF 128 165 2.66e-1 SMART
low complexity region 189 206 N/A INTRINSIC
Pfam:Trypsin 232 297 1.1e-15 PFAM
Meta Mutation Damage Score 0.5924 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: This gene encodes factor X, a component of both the intrinsic and extrinsic blood coagulation pathways. The encoded protein is a zymogen that undergoes further processing in a vitamin K-dependent manner to generate mature factor X, a heterodimer comprised of disulfide-linked heavy and light chains. The mature factor X is proteolytically activated either by factor IXa (intrinsic pathway) or factor VIIa (extrinsic pathway) to form factor Xa serine endopeptidase. Activated factor Xa catalyzes the conversion of prothrombin to thrombin. A complete lack of the encoded protein is fatal to mice. A severe deficiency of the encoded protein in mice causes age-dependent iron deposition and cardiac fibrosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bbx T C 16: 50,045,221 (GRCm39) K447E probably damaging Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign Het
Other mutations in F10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:F10 APN 8 13,105,686 (GRCm39) missense probably damaging 1.00
IGL01296:F10 APN 8 13,105,383 (GRCm39) missense possibly damaging 0.49
IGL02010:F10 APN 8 13,098,292 (GRCm39) missense probably damaging 0.97
IGL02707:F10 APN 8 13,098,252 (GRCm39) missense probably damaging 1.00
IGL02716:F10 APN 8 13,098,177 (GRCm39) nonsense probably null
IGL03354:F10 APN 8 13,095,089 (GRCm39) missense probably benign 0.00
ju UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
PIT4494001:F10 UTSW 8 13,103,423 (GRCm39) missense probably damaging 1.00
R0243:F10 UTSW 8 13,098,196 (GRCm39) missense probably damaging 1.00
R0321:F10 UTSW 8 13,103,413 (GRCm39) missense possibly damaging 0.95
R0416:F10 UTSW 8 13,105,448 (GRCm39) missense probably damaging 1.00
R0421:F10 UTSW 8 13,095,097 (GRCm39) missense probably benign 0.05
R0545:F10 UTSW 8 13,098,249 (GRCm39) missense probably damaging 1.00
R1630:F10 UTSW 8 13,105,551 (GRCm39) missense probably benign 0.00
R1732:F10 UTSW 8 13,100,764 (GRCm39) missense probably damaging 1.00
R1956:F10 UTSW 8 13,105,422 (GRCm39) missense probably damaging 1.00
R4700:F10 UTSW 8 13,089,621 (GRCm39) missense possibly damaging 0.93
R4989:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R5133:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R5134:F10 UTSW 8 13,105,698 (GRCm39) missense probably damaging 1.00
R6826:F10 UTSW 8 13,096,165 (GRCm39) splice site probably null
R7601:F10 UTSW 8 13,100,781 (GRCm39) missense probably benign 0.26
R8164:F10 UTSW 8 13,100,781 (GRCm39) missense probably benign 0.26
R8936:F10 UTSW 8 13,095,086 (GRCm39) missense probably damaging 1.00
R9165:F10 UTSW 8 13,089,564 (GRCm39) missense probably benign 0.00
R9260:F10 UTSW 8 13,105,638 (GRCm39) missense probably damaging 1.00
R9294:F10 UTSW 8 13,098,177 (GRCm39) nonsense probably null
X0024:F10 UTSW 8 13,105,859 (GRCm39) missense probably benign
Z1177:F10 UTSW 8 13,087,845 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAAGACTCCCATCACGTTC -3'
(R):5'- TCCACTTGAGGAAGGTCGTG -3'

Sequencing Primer
(F):5'- TTCCGGATGAACGTGGC -3'
(R):5'- GACCTTTGTGTAGATGCCATATTTC -3'
Posted On 2015-05-14