Incidental Mutation 'IGL02716:F10'
ID304793
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 #IGL02716
Quality Score
Status
Chromosome8
Chromosomal Location13037308-13056676 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 13048177 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 127 (K127*)
Ref Sequence ENSEMBL: ENSMUSP00000117312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]
Predicted Effect probably null
Transcript: ENSMUST00000033821
AA Change: K139*
SMART Domains Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: K139*

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 null
Transcript: ENSMUST00000063820
AA Change: K127*
SMART Domains Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: K127*

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 null
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 null
Transcript: ENSMUST00000128418
AA Change: K127*
SMART Domains Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: K127*

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 null
Transcript: ENSMUST00000152034
AA Change: K127*
SMART Domains Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: K127*

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,327,276 S212P probably benign Het
Ago2 C T 15: 73,111,727 R711Q possibly damaging Het
Akp3 A C 1: 87,125,479 D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 Q169L possibly damaging Het
Aspm A G 1: 139,479,687 Y2104C probably damaging Het
Baz2b G A 2: 59,962,524 S420L possibly damaging Het
Cenpo T C 12: 4,215,390 N210S possibly damaging Het
Chadl T C 15: 81,695,915 N40D probably damaging Het
Crebbp T C 16: 4,114,878 E586G probably benign Het
Cts7 T A 13: 61,356,608 Q47L probably benign Het
Cyp2c40 C A 19: 39,807,536 D133Y possibly damaging Het
Dnah3 A T 7: 119,937,023 M3679K probably damaging Het
Dym T C 18: 75,286,683 Y642H probably damaging Het
Efr3b T C 12: 3,984,627 D65G probably damaging Het
Elmo1 T A 13: 20,449,502 F445I probably damaging Het
Epdr1 C T 13: 19,594,570 V119M probably benign Het
Epha4 G T 1: 77,380,965 R799S probably damaging Het
Esyt3 A T 9: 99,317,224 V778E probably damaging Het
Fcgbp G A 7: 28,101,434 E1302K probably damaging Het
Fer1l4 A G 2: 156,029,715 F1382L probably damaging Het
Fhad1 T C 4: 141,918,331 I318V possibly damaging Het
Fscn2 A T 11: 120,366,724 T304S probably benign Het
Gab1 A T 8: 80,769,694 L659Q probably damaging Het
Gm4845 A C 1: 141,256,838 noncoding transcript Het
Gm572 A G 4: 148,654,870 M52V probably benign Het
Hmgcr T C 13: 96,660,012 probably null Het
Kcnk5 T C 14: 20,181,428 T9A probably damaging Het
Krt87 A C 15: 101,434,604 F243V possibly damaging Het
Mast1 G T 8: 84,935,723 P52Q probably damaging Het
Mcf2l A T 8: 12,997,277 Q211L probably benign Het
Mtus2 C A 5: 148,236,310 P968T probably benign Het
Mylk2 T C 2: 152,922,153 *614R probably null Het
Myo15b A T 11: 115,883,709 E2049V probably benign Het
Myo6 A T 9: 80,269,694 H581L probably damaging Het
Numb A T 12: 83,801,208 S241T possibly damaging Het
Olfr1265 G T 2: 90,037,794 V292L probably benign Het
Olfr1283 A T 2: 111,368,781 I50F probably benign Het
Olfr338 A G 2: 36,377,343 D189G possibly damaging Het
Phldb2 A G 16: 45,801,590 S676P probably damaging Het
Rttn G A 18: 89,048,417 E1196K possibly damaging Het
Skiv2l2 T G 13: 112,883,146 D810A probably benign Het
Slc13a3 G A 2: 165,406,715 P548S unknown Het
Slc2a7 A G 4: 150,160,010 probably benign Het
Slc37a1 T C 17: 31,328,161 S261P possibly damaging Het
Spryd3 T A 15: 102,133,461 Y42F possibly damaging Het
Srrm3 A G 5: 135,854,433 probably null Het
Stambp G A 6: 83,556,390 T297I probably damaging Het
Sypl T A 12: 32,967,669 Y129N probably damaging Het
Syt14 G A 1: 192,980,535 P368S possibly damaging Het
Tas2r122 T C 6: 132,711,264 D222G probably damaging Het
Tead2 C A 7: 45,232,296 Y79* probably null Het
Tmem251 A G 12: 102,744,829 T104A probably benign Het
Uso1 T C 5: 92,173,935 V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 S97P probably damaging Het
Vmn2r82 T A 10: 79,377,844 V88D probably benign Het
Vps29 A G 5: 122,362,066 T85A probably benign Het
Wdr90 T A 17: 25,857,220 S500C probably damaging Het
Zfp958 G A 8: 4,625,967 probably null 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
IGL02010:F10 APN 8 13048292 missense probably damaging 0.97
IGL02707:F10 APN 8 13048252 missense probably damaging 1.00
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 On2015-04-16