Incidental Mutation 'IGL02010:F10'
ID183318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F10
Ensembl Gene ENSMUSG00000031444
Gene Namecoagulation factor X
SynonymsAI194738, Cf10, fX
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02010
Quality Score
Status
Chromosome8
Chromosomal Location13037308-13056676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13048292 bp
ZygosityHeterozygous
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]
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
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M probably benign Het
Other mutations in F10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:F10 APN 8 13055686 missense probably damaging 1.00
IGL01296:F10 APN 8 13055383 missense possibly damaging 0.49
IGL02707:F10 APN 8 13048252 missense probably damaging 1.00
IGL02716:F10 APN 8 13048177 nonsense probably null
IGL03354:F10 APN 8 13045089 missense probably benign 0.00
ju UTSW 8 13055698 missense probably damaging 1.00
PIT4494001:F10 UTSW 8 13053423 missense probably damaging 1.00
R0243:F10 UTSW 8 13048196 missense probably damaging 1.00
R0321:F10 UTSW 8 13053413 missense possibly damaging 0.95
R0416:F10 UTSW 8 13055448 missense probably damaging 1.00
R0421:F10 UTSW 8 13045097 missense probably benign 0.05
R0545:F10 UTSW 8 13048249 missense probably damaging 1.00
R1630:F10 UTSW 8 13055551 missense probably benign 0.00
R1732:F10 UTSW 8 13050764 missense probably damaging 1.00
R1956:F10 UTSW 8 13055422 missense probably damaging 1.00
R4130:F10 UTSW 8 13055584 missense possibly damaging 0.94
R4700:F10 UTSW 8 13039621 missense possibly damaging 0.93
R4989:F10 UTSW 8 13055698 missense probably damaging 1.00
R5133:F10 UTSW 8 13055698 missense probably damaging 1.00
R5134:F10 UTSW 8 13055698 missense probably damaging 1.00
R6826:F10 UTSW 8 13046165 splice site probably null
R7601:F10 UTSW 8 13050781 missense probably benign 0.26
R8164:F10 UTSW 8 13050781 missense probably benign 0.26
X0024:F10 UTSW 8 13055859 missense probably benign
Z1177:F10 UTSW 8 13037845 missense probably benign 0.00
Posted On2014-05-07