Incidental Mutation 'IGL02010:F10'
ID 183318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F10
Ensembl Gene ENSMUSG00000031444
Gene Name coagulation factor X
Synonyms fX, AI194738, Cf10
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02010
Quality Score
Status
Chromosome 8
Chromosomal Location 13087308-13106676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13098292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 165 (I165T)
Ref Sequence ENSEMBL: ENSMUSP00000117312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]
AlphaFold O88947
Predicted Effect probably benign
Transcript: ENSMUST00000033821
AA Change: I177T

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: I177T

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 benign
Transcript: ENSMUST00000063820
AA Change: I165T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: I165T

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: ENSMUST00000123768
SMART Domains Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
GLA 22 85 5.98e-32 SMART
EGF 89 119 2.25e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128418
AA Change: I165T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: I165T

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 damaging
Transcript: ENSMUST00000152034
AA Change: I165T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: I165T

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,110,442 (GRCm39) D569G probably benign Het
Abhd17b C T 19: 21,661,485 (GRCm39) T224I probably benign Het
Atf6b T A 17: 34,873,626 (GRCm39) S695R probably benign Het
Cdh6 A C 15: 13,034,276 (GRCm39) probably benign Het
Cep290 G T 10: 100,344,569 (GRCm39) C462F probably benign Het
Cep290 T C 10: 100,397,207 (GRCm39) S2156P probably benign Het
Cfap20dc A T 14: 8,578,384 (GRCm38) H119Q possibly damaging Het
Cit T C 5: 116,014,006 (GRCm39) F240L probably damaging Het
Col1a2 T A 6: 4,512,416 (GRCm39) probably null Het
Ctcf T A 8: 106,391,597 (GRCm39) H297Q probably damaging Het
Dhx29 T C 13: 113,103,168 (GRCm39) probably null Het
Dhx37 T G 5: 125,495,777 (GRCm39) T835P possibly damaging Het
Enc1 C T 13: 97,381,588 (GRCm39) L33F possibly damaging Het
Epyc T A 10: 97,485,563 (GRCm39) M1K probably null Het
Fam124a T C 14: 62,824,728 (GRCm39) L74P probably damaging Het
Fam234b A G 6: 135,186,405 (GRCm39) S138G probably benign Het
Fam81a T C 9: 70,006,419 (GRCm39) K198E probably benign Het
Fbn2 T C 18: 58,170,794 (GRCm39) Y2199C probably damaging Het
Fign A C 2: 63,810,744 (GRCm39) S175R probably damaging Het
Grik1 T C 16: 87,848,396 (GRCm39) N124S possibly damaging Het
Hdac9 G T 12: 34,481,944 (GRCm39) L175M probably damaging Het
Hephl1 A C 9: 15,001,852 (GRCm39) Y163* probably null Het
Hes1 G A 16: 29,886,128 (GRCm39) G244D probably damaging Het
Hexb A G 13: 97,313,353 (GRCm39) L501P probably benign Het
Igkv5-43 T C 6: 69,752,936 (GRCm39) I49V probably benign Het
Ipo5 T C 14: 121,170,789 (GRCm39) S491P probably benign Het
Jakmip2 C T 18: 43,692,158 (GRCm39) probably null Het
Lrfn5 A G 12: 61,886,469 (GRCm39) T86A probably damaging Het
Lrp1b T C 2: 41,358,954 (GRCm39) T640A probably damaging Het
M6pr G T 6: 122,292,085 (GRCm39) R139L possibly damaging Het
Myl9 A T 2: 156,620,579 (GRCm39) N39Y probably damaging Het
Nlrp3 A G 11: 59,440,361 (GRCm39) D646G probably benign Het
Nlrp5 A T 7: 23,116,797 (GRCm39) M174L probably benign Het
Nnmt T A 9: 48,503,331 (GRCm39) I232F probably damaging Het
Nrg1 T C 8: 32,408,171 (GRCm39) T21A probably benign Het
Or5t15 C T 2: 86,681,541 (GRCm39) C167Y possibly damaging Het
Or6c65 A G 10: 129,604,136 (GRCm39) Y257C probably benign Het
Pcare T A 17: 72,056,459 (GRCm39) T1073S probably benign Het
Pcdh7 T G 5: 58,286,597 (GRCm39) N1224K probably benign Het
Pde4a T C 9: 21,114,850 (GRCm39) probably null Het
Pfkfb3 T C 2: 11,488,805 (GRCm39) T320A probably benign Het
Plekhm2 T C 4: 141,364,730 (GRCm39) probably benign Het
Rabgap1l C T 1: 160,299,641 (GRCm39) R584H probably damaging Het
Rnf157 T A 11: 116,287,052 (GRCm39) N57I probably damaging Het
Rtf1 G A 2: 119,531,747 (GRCm39) probably null Het
Sap130 C A 18: 31,782,655 (GRCm39) R189S probably damaging Het
Slc34a1 T G 13: 24,003,025 (GRCm39) V225G probably benign Het
Smg1 T C 7: 117,785,369 (GRCm39) probably benign Het
Tecta G A 9: 42,248,489 (GRCm39) T1971I probably damaging Het
Tlcd5 A T 9: 43,022,859 (GRCm39) V165E probably damaging Het
Tmem263 T A 10: 84,950,274 (GRCm39) S22T probably benign Het
Tnrc18 A T 5: 142,773,049 (GRCm39) F410L unknown Het
Ttc27 T G 17: 75,087,906 (GRCm39) probably benign Het
Vmn1r45 A T 6: 89,910,668 (GRCm39) C101S probably damaging Het
Wdr17 T C 8: 55,112,738 (GRCm39) K781E probably damaging Het
Xkr6 C T 14: 64,056,653 (GRCm39) T188M 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
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
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
Posted On 2014-05-07