Incidental Mutation 'R0416:F10'
ID 40321
Institutional Source Beutler Lab
Gene Symbol F10
Ensembl Gene ENSMUSG00000031444
Gene Name coagulation factor X
Synonyms fX, AI194738, Cf10
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0416 (G1)
Quality Score 106
Status Validated
Chromosome 8
Chromosomal Location 13087308-13106676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13105448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 338 (A338T)
Ref Sequence ENSEMBL: ENSMUSP00000068389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000128418] [ENSMUST00000152034]
AlphaFold O88947
Predicted Effect probably damaging
Transcript: ENSMUST00000033821
AA Change: A350T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: A350T

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 probably damaging
Transcript: ENSMUST00000063820
AA Change: A338T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: A338T

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 0.7294 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamdec1 T G 14: 68,806,161 (GRCm39) E438A possibly damaging Het
Adamts17 A G 7: 66,565,646 (GRCm39) probably null Het
Ankrd44 T G 1: 54,782,498 (GRCm39) I359L possibly damaging Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Ino80d G T 1: 63,125,435 (GRCm39) T9K possibly damaging Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Stk3 T A 15: 35,114,778 (GRCm39) I45L probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P 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
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
R4130:F10 UTSW 8 13,105,584 (GRCm39) missense possibly damaging 0.94
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'- TTCTCTGGCCCCAGGTGATCGGAAC -3'
(R):5'- ACCAGATGTGACCCAGCAGGACTG -3'

Sequencing Primer
(F):5'- CCAGGTGATCGGAACACAGAG -3'
(R):5'- CCTGTCAATCCACTTGAGGAAGG -3'
Posted On 2013-05-23